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📚 章節目錄
genodermatoses
375 items with this tag.
Aug 14, 2026
PRENATAL DIAGNOSIS OF GENODERMATOSES
皮膚科
genodermatoses
prenatal_diagnosis
chorionic_villus_sampling
amniocentesis
preimplantation_genetic_diagnosis
Aug 14, 2026
RISK FACTORS (TABLE 108.2)
皮膚科
skin_neoplasms
risk_factors
ultraviolet_radiation
immunosuppression
genodermatoses
field_cancerization
Aug 14, 2026
INTRODUCTION
皮膚科
genodermatoses
genetics
human_genome
epigenetics
Aug 14, 2026
GENETIC DISEASES
皮膚科
genodermatoses
genetics
mendelian_inheritance
chromosomal_anomalies
Aug 14, 2026
MENDELIAN PATTERNS OF INHERITANCE
皮膚科
genodermatoses
genetics
mendelian_inheritance
autosomal_dominant
autosomal_recessive
x_linked
Aug 14, 2026
EXCEPTIONS TO BASIC MENDELIAN PATTERNS OF HERITANCE
皮膚科
genodermatoses
genetics
mendelian_inheritance
penetrance
pseudodominant_inheritance
Aug 14, 2026
EPIGENETICS AND IMPRINTING
皮膚科
genodermatoses
epigenetics
imprinting
uniparental_disomy
dna_methylation
Aug 14, 2026
CHROMOSOMAL DISORDERS
皮膚科
genodermatoses
genetics
chromosomal_disorders
aneuploidy
translocation
karyotype
Aug 14, 2026
COMPLEX GENETIC TRAITS
皮膚科
genodermatoses
genetics
complex_traits
gwas
twin_studies
Aug 14, 2026
IDENTIFICATION OF DISEASE GENES
皮膚科
genodermatoses
genetics
gene_panel
whole_exome_sequencing
hereditary_cancer_syndromes
Aug 14, 2026
INTERPRETATION OF SEQUENCE VARIANTS
皮膚科
genodermatoses
genetics
sequence_variants
mutation
acmg_guidelines
sanger_sequencing
Aug 14, 2026
NEXT-GENERATION (MASSIVELY PARALLEL) SEQUENCING
皮膚科
genodermatoses
genetics
next_generation_sequencing
whole_exome_sequencing
whole_genome_sequencing
Aug 14, 2026
GENETIC COUNSELING
皮膚科
genodermatoses
genetics
genetic_counseling
genetic_testing
gina
Aug 14, 2026
TUMOR GENETICS FOR THE DERMATOLOGIST
皮膚科
genodermatoses
genetics
tumor_genetics
somatic_mutation
germline_mutation
hereditary_cancer_syndromes
Aug 14, 2026
Introduction
皮膚科
genodermatoses
genetics
omim
genotype_phenotype_correlation
mosaicism
Aug 14, 2026
INTRODUCTION
皮膚科
genodermatoses
genetics
omim
mim_number
molecular_classification
Aug 14, 2026
GENOTYPE–PHENOTYPE CORRELATIONS
皮膚科
genodermatoses
genetics
genotype_phenotype_correlation
allelic_heterogeneity
locus_heterogeneity
Aug 14, 2026
MOLECULAR CLASSIFICATION OF HEREDITARY SKIN DISORDERS
皮膚科
genodermatoses
genetics
keratin
desmosome
connexin
rasopathies
wnt_signaling
abc_transporter
Aug 14, 2026
CONTIGUOUS GENE SYNDROMES
皮膚科
genodermatoses
genetics
contiguous_gene_syndrome
chromosomal_deletion
Aug 14, 2026
CUTANEOUS MOSAICISM
皮膚科
genodermatoses
genetics
mosaicism
lines_of_blaschko
lyonization
Aug 14, 2026
REVERTANT MOSAICISM
皮膚科
genodermatoses
genetics
revertant_mosaicism
epidermolysis_bullosa
ichthyosis_en_confetti
Aug 14, 2026
CHROMOSOMAL DISORDERS
皮膚科
genodermatoses
genetics
chromosomal_disorders
aneuploidy
down_syndrome
phylloid_hypomelanosis
Aug 14, 2026
INSIGHT INTO ACQUIRED SKIN DISORDERS PROVIDED BY THE STUDY OF GENODERMATOSES
皮膚科
genodermatoses
genetics
filaggrin
atopic_dermatitis
interferonopathy
Aug 14, 2026
PRENATAL AND PREIMPLANTATION GENETIC DIAGNOSIS
皮膚科
genodermatoses
genetics
prenatal_diagnosis
preimplantation_genetic_diagnosis
Aug 14, 2026
TREATMENT FOR HEREDITARY SKIN DISORDERS
皮膚科
genodermatoses
gene_therapy
crispr
mtor_inhibitor
targeted_therapy
epidermolysis_bullosa
Aug 14, 2026
Introduction
皮膚科
genodermatoses
keratinocyte
epidermis
terminal_differentiation
desmosome
Aug 14, 2026
INTRODUCTION
皮膚科
genodermatoses
keratinocyte
epidermis
epidermal_barrier
terminal_differentiation
Aug 14, 2026
THE EPIDERMIS: STRUCTURE AND FUNCTION
皮膚科
genodermatoses
keratinocyte
epidermis
cornified_cell_envelope
transglutaminase
stratum_corneum
Aug 14, 2026
KERATIN INTERMEDIATE FILAMENTS
皮膚科
genodermatoses
keratin
intermediate_filament
hair_keratin
keratinocyte
Aug 14, 2026
EPIDERMAL DIFFERENTIATION
皮膚科
genodermatoses
keratinocyte
epidermal_differentiation
p63
notch_signaling
calcium_gradient
Aug 14, 2026
KERATINOCYTE ADHESION
皮膚科
genodermatoses
keratinocyte
desmosome
adherens_junction
tight_junction
cadherin
Aug 14, 2026
KERATINOCYTE–MATRIX INTERACTIONS
皮膚科
keratinocyte_biology
basement_membrane
integrins
extracellular_matrix
fraser_syndrome
genodermatoses
Aug 14, 2026
RELATED DISEASES
皮膚科
keratin_disorders
epidermolysis_bullosa_simplex
epidermolytic_ichthyosis
white_sponge_nevus
filaggrin
ichthyosis_vulgaris
atopic_dermatitis
genodermatoses
Aug 14, 2026
CONCLUSION
皮膚科
keratinocyte_biology
epidermis
mouse_models
sirna
genodermatoses
Aug 14, 2026
Introduction
皮膚科
ichthyosis
erythrokeratoderma
disorders_of_cornification
genodermatoses
Aug 14, 2026
INTRODUCTION
皮膚科
ichthyosis
erythrokeratoderma
disorders_of_cornification
genodermatoses
genetic_testing
Aug 14, 2026
ICHTHYOSIS VULGARIS
皮膚科
ichthyosis_vulgaris
flg
filaggrin
keratosis_pilaris
atopic_dermatitis
genodermatoses
Aug 14, 2026
STEROID SULFATASE DEFICIENCY
皮膚科
steroid_sulfatase_deficiency
x_linked_ichthyosis
sts
cholesterol_sulfate
genodermatoses
Aug 14, 2026
EPIDERMOLYTIC ICHTHYOSIS
皮膚科
epidermolytic_ichthyosis
krt1
krt10
krt2
epidermolytic_hyperkeratosis
genodermatoses
Aug 14, 2026
ICHTHYOSIS WITH CONFETTI
皮膚科
ichthyosis_with_confetti
krt10
krt1
revertant_mosaicism
genodermatoses
Aug 14, 2026
ICHTHYOSIS HYSTRIX CURTH–MACKLIN
皮膚科
ichthyosis_hystrix
curth_macklin
krt1
krt10
genodermatoses
Aug 14, 2026
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS (ARCI): CLINICAL AND GENETIC SPECTRUM
皮膚科
arci
tgm1
abca12
alox12b
aloxe3
nipal4
cyp4f22
pnpla1
slc27a4
genodermatoses
Aug 14, 2026
COLLODION BABY
皮膚科
collodion_baby
collodion_membrane
tgm1
self_improving_collodion_ichthyosis
genodermatoses
Aug 14, 2026
LAMELLAR ICHTHYOSIS
皮膚科
lamellar_ichthyosis
tgm1
arci
ectropion
genodermatoses
Aug 14, 2026
CONGENITAL ICHTHYOSIFORM ERYTHRODERMA
皮膚科
congenital_ichthyosiform_erythroderma
arci
erythroderma
tgm1
genodermatoses
Aug 14, 2026
HARLEQUIN ICHTHYOSIS
皮膚科
harlequin_ichthyosis
abca12
arci
neonatal_dermatology
genodermatoses
Aug 14, 2026
NETHERTON SYNDROME
皮膚科
netherton_syndrome
spink5
lekti
trichorrhexis_invaginata
ichthyosis_linearis_circumflexa
genodermatoses
Aug 14, 2026
SJÖGREN–LARSSON SYNDROME
皮膚科
sjogren_larsson_syndrome
aldh3a2
faldh
neurocutaneous
genodermatoses
Aug 14, 2026
NEUTRAL LIPID STORAGE DISEASE WITH ICHTHYOSIS
皮膚科
neutral_lipid_storage_disease
chanarin_dorfman_syndrome
abhd5
jordan_anomaly
genodermatoses
Aug 14, 2026
TRICHOTHIODYSTROPHY WITH ICHTHYOSIS
皮膚科
trichothiodystrophy
ercc2
ercc3
tfiih
tiger_tail_hair
genodermatoses
Aug 14, 2026
ERYTHROKERATODERMAS
皮膚科
erythrokeratoderma
disorders_of_cornification
genodermatoses
Aug 14, 2026
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
皮膚科
erythrokeratodermia_variabilis
gjb3
gjb4
gja1
connexin
genodermatoses
Aug 14, 2026
KERATITIS–ICHTHYOSIS–DEAFNESS SYNDROME
皮膚科
kid_syndrome
gjb2
connexin_26
hid_syndrome
sensorineural_hearing_loss
genodermatoses
Aug 14, 2026
CHILD SYNDROME
皮膚科
child_syndrome
nsdhl
x_linked_dominant
cholesterol_biosynthesis
mosaicism
lines_of_blaschko
genodermatoses
Aug 14, 2026
CONRADI–HÜNERMANN–HAPPLE SYNDROME
皮膚科
conradi_hunermann_happle_syndrome
chondrodysplasia_punctata
ebp
x_linked_dominant
cholesterol_biosynthesis
follicular_atrophoderma
lines_of_blaschko
mend_syndrome
genodermatoses
Aug 14, 2026
OTHER ICHTHYOSES, PEELING SKIN SYNDROMES, AND RELATED DISORDERS
皮膚科
peeling_skin_syndrome
syndromic_ichthyosis
erythrokeratoderma
genodermatoses
Aug 14, 2026
Introduction
皮膚科
genodermatoses
palmoplantar_keratoderma
disorders_of_cornification
Aug 14, 2026
INTRODUCTION
皮膚科
genodermatoses
palmoplantar_keratoderma
disorders_of_cornification
connexin
Aug 14, 2026
DIFFUSE PALMOPLANTAR KERATODERMA WITHOUT ASSOCIATED FEATURES (ISOLATED, NON-SYNDROMIC)
皮膚科
genodermatoses
palmoplantar_keratoderma
epidermolytic_hyperkeratosis
keratin_mutation
Aug 14, 2026
DIFFUSE PALMOPLANTAR KERATODERMAS WITH ICHTHYOSIS
皮膚科
genodermatoses
palmoplantar_keratoderma
ichthyosis
cornified_envelope
Aug 14, 2026
DIFFUSE PALMOPLANTAR KERATODERMAS WITH ASSOCIATED FEATURES/SYNDROMIC
皮膚科
genodermatoses
palmoplantar_keratoderma
ectodermal_dysplasia
connexin
cardiomyopathy
Aug 14, 2026
FOCAL PALMOPLANTAR KERATODERMA WITHOUT ASSOCIATED FEATURES (ISOLATED, NON-SYNDROMIC)
皮膚科
genodermatoses
palmoplantar_keratoderma
desmosome
focal_ppk
Aug 14, 2026
FOCAL PALMOPLANTAR KERATODERMA WITH ASSOCIATED FEATURES/SYNDROMIC
皮膚科
genodermatoses
palmoplantar_keratoderma
focal_ppk
keratin_mutation
desmoplakin
Aug 14, 2026
PUNCTATE PALMOPLANTAR KERATODERMA WITHOUT ASSOCIATED FEATURES (ISOLATED, NON-SYNDROMIC)
皮膚科
genodermatoses
palmoplantar_keratoderma
punctate_ppk
acrokeratoelastoidosis
Aug 14, 2026
PUNCTATE PALMOPLANTAR KERATODERMA WITH ASSOCIATED FEATURES/SYNDROMIC
皮膚科
genodermatoses
palmoplantar_keratoderma
punctate_ppk
ectopic_calcification
Aug 14, 2026
DARIER DISEASE
皮膚科
darier_disease
atp2a2
serca2
acantholytic_dyskeratosis
keratosis_follicularis
mosaicism
acrokeratosis_verruciformis
genodermatoses
Aug 14, 2026
HAILEY–HAILEY DISEASE
皮膚科
hailey_hailey_disease
atp2c1
hspca1
acantholysis
familial_benign_chronic_pemphigus
intertriginous
mosaicism
genodermatoses
Aug 14, 2026
INTRODUCTION
皮膚科
genodermatoses
primary_immunodeficiency
immunology
inherited_disorders
Aug 14, 2026
ATAXIA–TELANGIECTASIA
皮膚科
genodermatoses
primary_immunodeficiency
ataxia_telangiectasia
atm
dna_repair_disorder
chromosomal_instability
Aug 14, 2026
CHRONIC MUCOCUTANEOUS CANDIDIASIS
皮膚科
genodermatoses
primary_immunodeficiency
chronic_mucocutaneous_candidiasis
stat1
il17
apeced
fungal_infection
Aug 14, 2026
CARTILAGE–HAIR HYPOPLASIA SYNDROME
皮膚科
genodermatoses
primary_immunodeficiency
cartilage_hair_hypoplasia
rmrp
skeletal_dysplasia
Aug 14, 2026
CHÉDIAK–HIGASHI SYNDROME
皮膚科
genodermatoses
primary_immunodeficiency
chediak_higashi_syndrome
lyst
pigmentary_dilution
hemophagocytic_syndrome
Aug 14, 2026
COMPLEMENT DISORDERS
皮膚科
genodermatoses
primary_immunodeficiency
complement_deficiency
systemic_lupus_erythematosus
neisserial_infection
innate_immunity
Aug 14, 2026
CHRONIC GRANULOMATOUS DISEASE
皮膚科
genodermatoses
primary_immunodeficiency
chronic_granulomatous_disease
nadph_oxidase
phagocyte_disorder
gene_therapy
Aug 14, 2026
HYPERIMMUNOGLOBULIN E SYNDROMES
皮膚科
genodermatoses
primary_immunodeficiency
hyper_ige_syndrome
stat3
dock8
cold_abscess
eczematous_dermatitis
Aug 14, 2026
IMMUNOGLOBULIN DEFICIENCIES
皮膚科
genodermatoses
primary_immunodeficiency
immunoglobulin_deficiency
agammaglobulinemia
common_variable_immunodeficiency
iga_deficiency
Aug 14, 2026
IPEX SYNDROME
皮膚科
genodermatoses
primary_immunodeficiency
ipex_syndrome
foxp3
regulatory_t_cells
autoimmune_enteropathy
Aug 14, 2026
LEUKOCYTE ADHESION DEFICIENCY
皮膚科
genodermatoses
primary_immunodeficiency
leukocyte_adhesion_deficiency
integrin
cd18
periodontitis
Aug 14, 2026
SEVERE COMBINED IMMUNODEFICIENCY AND OMENN SYNDROME
皮膚科
genodermatoses
primary_immunodeficiency
severe_combined_immunodeficiency
omenn_syndrome
rag1
rag2
gene_therapy
erythroderma
Aug 14, 2026
WISKOTT–ALDRICH SYNDROME
皮膚科
genodermatoses
primary_immunodeficiency
wiskott_aldrich_syndrome
was
thrombocytopenia
eczematous_dermatitis
Aug 14, 2026
INTRODUCTION
皮膚科
genodermatoses
neurofibromatosis
tuberous_sclerosis_complex
phakomatoses
neurocutaneous_disorders
Aug 14, 2026
NEUROFIBROMATOSIS TYPE 1
皮膚科
genodermatoses
neurofibromatosis_type_1
nf1
cafe_au_lait_macules
plexiform_neurofibroma
rasopathy
selumetinib
Aug 14, 2026
TUBEROUS SCLEROSIS COMPLEX
皮膚科
genodermatoses
tuberous_sclerosis_complex
tsc1
tsc2
angiofibroma
hypomelanotic_macule
mtor_inhibitor
sirolimus
Aug 14, 2026
Introduction
皮膚科
mosaicism
linear_lesions
lines_of_blaschko
genodermatoses
epidermal_nevi
Aug 14, 2026
INTRODUCTION AND HISTORY
皮膚科
mosaicism
lines_of_blaschko
lyonization
postzygotic_mutation
chimerism
genodermatoses
Aug 14, 2026
PATTERNS AND PATHOGENESIS OF CUTANEOUS MOSAICISM
皮膚科
mosaicism
lines_of_blaschko
revertant_mosaicism
loss_of_heterozygosity
segmental_disorders
genodermatoses
Aug 14, 2026
FUNCTIONAL MOSAICISM IN X-LINKED GERMLINE DISORDERS
皮膚科
functional_mosaicism
lyonization
x_linked
lines_of_blaschko
child_syndrome
genodermatoses
Aug 14, 2026
Incontinentia Pigmenti
皮膚科
incontinentia_pigmenti
x_linked_dominant
ikbkg
nemo
lines_of_blaschko
genodermatoses
Aug 14, 2026
Hypohidrotic Ectodermal Dysplasia With Immune Deficiency
皮膚科
ectodermal_dysplasia
immune_deficiency
nemo
genodermatoses
Aug 14, 2026
Goltz Syndrome (Focal Dermal Hypoplasia)
皮膚科
goltz_syndrome
focal_dermal_hypoplasia
porcn
x_linked_dominant
wnt_signaling
genodermatoses
Aug 14, 2026
Conradi–Hünermann–Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata)
皮膚科
chondrodysplasia_punctata
ebp
nsdhl
child_syndrome
cholesterol_biosynthesis
genodermatoses
Aug 14, 2026
Linear Skin Defects With Multiple Congenital Anomalies (Including MIDAS Syndrome)
皮膚科
midas_syndrome
lsdmca
x_linked_dominant
mitochondrial_enzymes
genodermatoses
Aug 14, 2026
Oral–Facial–Digital Syndrome Type I
皮膚科
oral_facial_digital_syndrome
ofd1
x_linked_dominant
primary_cilia
genodermatoses
Aug 14, 2026
X-linked Etiologies of Blaschko-Linear Hypo- and Hyperpigmentation
皮膚科
lines_of_blaschko
hyperpigmentation
hypopigmentation
phf6
tfe3
usp9x
genodermatoses
Aug 14, 2026
X-Linked Hypohidrotic Ectodermal Dysplasia (Female Patients)
皮膚科
hypohidrotic_ectodermal_dysplasia
x_linked
carrier
lines_of_blaschko
genodermatoses
Aug 14, 2026
Menkes Disease (Female Carriers)
皮膚科
menkes_disease
x_linked_recessive
pili_torti
copper_metabolism
genodermatoses
Aug 14, 2026
X-Linked Reticulate Pigmentary Disorder
皮膚科
reticulate_pigmentary_disorder
pola1
x_linked
type_i_interferon
genodermatoses
Aug 14, 2026
EPIDERMAL NEVI AND RELATED SYNDROMES
皮膚科
epidermal_nevus
nevus_sebaceus
ilven
proteus_syndrome
pros
pik3ca
hras
mosaicism
genodermatoses
Aug 14, 2026
MOSAICISM IN OTHER AUTOSOMAL DOMINANT DISORDERS
皮膚科
mosaicism
darier_disease
hailey_hailey_disease
porokeratosis
neurofibromatosis
tuberous_sclerosis
eccl
genodermatoses
Aug 14, 2026
CHIMERISM
皮膚科
chimerism
pigmentation
checkerboard_pattern
genodermatoses
Aug 14, 2026
Introduction
皮膚科
genodermatoses
enzyme_deficiency
premature_aging
ectodermal_dysplasia
Aug 14, 2026
MULTIPLE ENDOCRINE NEOPLASIA
皮膚科
multiple_endocrine_neoplasia
angiofibroma
collagenoma
mucosal_neuroma
ret
genodermatoses
Aug 14, 2026
PTEN HAMARTOMA TUMOR SYNDROME, INCLUDING COWDEN SYNDROME
皮膚科
pten_hamartoma_tumor_syndrome
cowden_syndrome
tricholemmoma
sclerotic_fibroma
cancer_surveillance
mtor
genodermatoses
Aug 14, 2026
GARDNER SYNDROME (VARIANT OF FAMILIAL ADENOMATOUS POLYPOSIS)
皮膚科
gardner_syndrome
familial_adenomatous_polyposis
apc
epidermoid_cyst
desmoid_tumor
osteoma
genodermatoses
Aug 14, 2026
MUIR–TORRE SYNDROME (VARIANT OF LYNCH SYNDROME)
皮膚科
muir_torre_syndrome
lynch_syndrome
sebaceous_neoplasm
keratoacanthoma
mismatch_repair
microsatellite_instability
genodermatoses
Aug 14, 2026
ALKAPTONURIA
皮膚科
alkaptonuria
ochronosis
homogentisic_acid
nitisinone
genodermatoses
Aug 14, 2026
BIOTINIDASE AND HOLOCARBOXYLASE SYNTHETASE DEFICIENCIES
皮膚科
biotinidase_deficiency
holocarboxylase_synthetase_deficiency
multiple_carboxylase_deficiency
nutritional_dermatitis
biotin
genodermatoses
Aug 14, 2026
FABRY DISEASE
皮膚科
fabry_disease
angiokeratoma
lysosomal_storage_disorder
gla
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
FUCOSIDOSIS
皮膚科
fucosidosis
angiokeratoma
lysosomal_storage_disorder
fuca1
genodermatoses
Aug 14, 2026
GAUCHER DISEASE
皮膚科
gaucher_disease
lysosomal_storage_disorder
glucocerebrosidase
collodion_baby
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
HARTNUP DISEASE
皮膚科
hartnup_disease
photosensitivity
pellagra_like
slc6a19
nicotinamide
genodermatoses
Aug 14, 2026
MITOCHONDRIAL DISORDERS
皮膚科
mitochondrial_disorders
respiratory_chain
oxidative_phosphorylation
hair_shaft_anomalies
genodermatoses
Aug 14, 2026
ACID SPHINGOMYELINASE DEFICIENCY (NIEMANN–PICK DISEASE)
皮膚科
niemann_pick_disease
acid_sphingomyelinase_deficiency
lysosomal_storage_disorder
olipudase_alfa
genodermatoses
Aug 14, 2026
PHENYLKETONURIA
皮膚科
phenylketonuria
phenylalanine_hydroxylase
pigmentary_dilution
sclerodermoid
newborn_screening
genodermatoses
Aug 14, 2026
PREMATURE AGING SYNDROMES AND POIKILODERMAS
皮膚科
progeroid_syndromes
poikiloderma
rothmund_thomson_syndrome
kindler_syndrome
genodermatoses
Aug 14, 2026
HUTCHINSON–GILFORD PROGERIA SYNDROME
皮膚科
hutchinson_gilford_progeria_syndrome
lmna
progerin
lonafarnib
farnesyltransferase_inhibitor
nuclear_envelopathy
genodermatoses
Aug 14, 2026
WERNER SYNDROME
皮膚科
werner_syndrome
wrn
recql2
dna_helicase
progeroid_syndrome
genodermatoses
Aug 14, 2026
ECTODERMAL DYSPLASIAS
皮膚科
ectodermal_dysplasia
ectodysplasin
wnt_signaling
tp63
wnt10a
genodermatoses
Aug 14, 2026
HYPOHIDROTIC ECTODERMAL DYSPLASIA
皮膚科
hypohidrotic_ectodermal_dysplasia
eda
edar
wnt10a
ectodysplasin_pathway
hypodontia
genodermatoses
Aug 14, 2026
HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY
皮膚科
hed_id
ikbkg
nemo
nfkbia
immunodeficiency
ectodermal_dysplasia
genodermatoses
Aug 14, 2026
HIDROTIC ECTODERMAL DYSPLASIA
皮膚科
hidrotic_ectodermal_dysplasia
clouston_syndrome
gjb6
connexin_30
palmoplantar_keratoderma
nail_dystrophy
genodermatoses
Aug 14, 2026
WITKOP TOOTH AND NAIL SYNDROME
皮膚科
witkop_syndrome
tooth_and_nail_syndrome
msx1
hypodontia
nail_dysgenesis
genodermatoses
Aug 14, 2026
ANKYLOBLEPHARON–ECTODERMAL DEFECTS– CLEFT LIP/PALATE SYNDROME
皮膚科
aec_syndrome
hay_wells_syndrome
rapp_hodgkin_syndrome
tp63
sam_domain
erosive_scalp_dermatitis
genodermatoses
Aug 14, 2026
ECTODERMAL DYSPLASIA–ECTRODACTYLY– CLEFTING SYNDROME
皮膚科
eec_syndrome
tp63
ectrodactyly
split_hand_foot_malformation
ectodermal_dysplasia
genodermatoses
Aug 14, 2026
Introduction
皮膚科
developmental_anomalies
genodermatoses
neural_tube_defects
aplasia_cutis_congenita
midline_lesions
Aug 14, 2026
遺傳性皮膚病的產前診斷（PRENATAL DIAGNOSIS OF GENODERMATOSES）
皮膚科
genodermatoses
prenatal_diagnosis
chorionic_villus_sampling
amniocentesis
preimplantation_genetic_diagnosis
Aug 14, 2026
危險因子（RISK FACTORS (TABLE 108.2)）
皮膚科
skin_neoplasms
risk_factors
ultraviolet_radiation
immunosuppression
genodermatoses
field_cancerization
Aug 14, 2026
前言（INTRODUCTION）
皮膚科
genodermatoses
genetics
human_genome
epigenetics
Aug 14, 2026
遺傳性疾病（GENETIC DISEASES）
皮膚科
genodermatoses
genetics
mendelian_inheritance
chromosomal_anomalies
Aug 14, 2026
Mendelian 遺傳模式（MENDELIAN PATTERNS OF INHERITANCE）
皮膚科
genodermatoses
genetics
mendelian_inheritance
autosomal_dominant
autosomal_recessive
x_linked
Aug 14, 2026
基本 Mendelian 遺傳模式的例外（EXCEPTIONS TO BASIC MENDELIAN PATTERNS OF HERITANCE）
皮膚科
genodermatoses
genetics
mendelian_inheritance
penetrance
pseudodominant_inheritance
Aug 14, 2026
表觀遺傳學與印記（EPIGENETICS AND IMPRINTING）
皮膚科
genodermatoses
epigenetics
imprinting
uniparental_disomy
dna_methylation
Aug 14, 2026
染色體疾病（CHROMOSOMAL DISORDERS）
皮膚科
genodermatoses
genetics
chromosomal_disorders
aneuploidy
translocation
karyotype
Aug 14, 2026
複雜遺傳性狀（COMPLEX GENETIC TRAITS）
皮膚科
genodermatoses
genetics
complex_traits
gwas
twin_studies
Aug 14, 2026
致病基因的鑑定（IDENTIFICATION OF DISEASE GENES）
皮膚科
genodermatoses
genetics
gene_panel
whole_exome_sequencing
hereditary_cancer_syndromes
Aug 14, 2026
序列變異的解讀（INTERPRETATION OF SEQUENCE VARIANTS）
皮膚科
genodermatoses
genetics
sequence_variants
mutation
acmg_guidelines
sanger_sequencing
Aug 14, 2026
次世代（大規模平行）定序（NEXT-GENERATION (MASSIVELY PARALLEL) SEQUENCING）
皮膚科
genodermatoses
genetics
next_generation_sequencing
whole_exome_sequencing
whole_genome_sequencing
Aug 14, 2026
遺傳諮詢（GENETIC COUNSELING）
皮膚科
genodermatoses
genetics
genetic_counseling
genetic_testing
gina
Aug 14, 2026
皮膚科醫師應知的腫瘤遺傳學（TUMOR GENETICS FOR THE DERMATOLOGIST）
皮膚科
genodermatoses
genetics
tumor_genetics
somatic_mutation
germline_mutation
hereditary_cancer_syndromes
Aug 14, 2026
導論（Introduction）
皮膚科
genodermatoses
genetics
omim
genotype_phenotype_correlation
mosaicism
Aug 14, 2026
前言（INTRODUCTION）
皮膚科
genodermatoses
genetics
omim
mim_number
molecular_classification
Aug 14, 2026
基因型—表現型關聯（GENOTYPE–PHENOTYPE CORRELATIONS）
皮膚科
genodermatoses
genetics
genotype_phenotype_correlation
allelic_heterogeneity
locus_heterogeneity
Aug 14, 2026
遺傳性皮膚疾病的分子分類（MOLECULAR CLASSIFICATION OF HEREDITARY SKIN DISORDERS）
皮膚科
genodermatoses
genetics
keratin
desmosome
connexin
rasopathies
wnt_signaling
abc_transporter
Aug 14, 2026
連續基因症候群（CONTIGUOUS GENE SYNDROMES）
皮膚科
genodermatoses
genetics
contiguous_gene_syndrome
chromosomal_deletion
Aug 14, 2026
皮膚鑲嵌現象（CUTANEOUS MOSAICISM）
皮膚科
genodermatoses
genetics
mosaicism
lines_of_blaschko
lyonization
Aug 14, 2026
回復性鑲嵌現象（REVERTANT MOSAICISM）
皮膚科
genodermatoses
genetics
revertant_mosaicism
epidermolysis_bullosa
ichthyosis_en_confetti
Aug 14, 2026
染色體疾病（CHROMOSOMAL DISORDERS）
皮膚科
genodermatoses
genetics
chromosomal_disorders
aneuploidy
down_syndrome
phylloid_hypomelanosis
Aug 14, 2026
遺傳性皮膚病研究對後天性皮膚疾病的洞見（INSIGHT INTO ACQUIRED SKIN DISORDERS PROVIDED BY THE STUDY OF GENODERMATOSES）
皮膚科
genodermatoses
genetics
filaggrin
atopic_dermatitis
interferonopathy
Aug 14, 2026
產前與胚胎著床前基因診斷（PRENATAL AND PREIMPLANTATION GENETIC DIAGNOSIS）
皮膚科
genodermatoses
genetics
prenatal_diagnosis
preimplantation_genetic_diagnosis
Aug 14, 2026
遺傳性皮膚疾病的治療（TREATMENT FOR HEREDITARY SKIN DISORDERS）
皮膚科
genodermatoses
gene_therapy
crispr
mtor_inhibitor
targeted_therapy
epidermolysis_bullosa
Aug 14, 2026
導論（Introduction）
皮膚科
genodermatoses
keratinocyte
epidermis
terminal_differentiation
desmosome
Aug 14, 2026
前言（INTRODUCTION）
皮膚科
genodermatoses
keratinocyte
epidermis
epidermal_barrier
terminal_differentiation
Aug 14, 2026
表皮：結構與功能（THE EPIDERMIS: STRUCTURE AND FUNCTION）
皮膚科
genodermatoses
keratinocyte
epidermis
cornified_cell_envelope
transglutaminase
stratum_corneum
Aug 14, 2026
Keratin 中間絲（KERATIN INTERMEDIATE FILAMENTS）
皮膚科
genodermatoses
keratin
intermediate_filament
hair_keratin
keratinocyte
Aug 14, 2026
表皮分化（EPIDERMAL DIFFERENTIATION）
皮膚科
genodermatoses
keratinocyte
epidermal_differentiation
p63
notch_signaling
calcium_gradient
Aug 14, 2026
角質細胞黏附（KERATINOCYTE ADHESION）
皮膚科
genodermatoses
keratinocyte
desmosome
adherens_junction
tight_junction
cadherin
Aug 14, 2026
角質細胞—基質交互作用（KERATINOCYTE–MATRIX INTERACTIONS）
皮膚科
keratinocyte_biology
basement_membrane
integrins
extracellular_matrix
fraser_syndrome
genodermatoses
Aug 14, 2026
相關疾病（RELATED DISEASES）
皮膚科
keratin_disorders
epidermolysis_bullosa_simplex
epidermolytic_ichthyosis
white_sponge_nevus
filaggrin
ichthyosis_vulgaris
atopic_dermatitis
genodermatoses
Aug 14, 2026
結論（CONCLUSION）
皮膚科
keratinocyte_biology
epidermis
mouse_models
sirna
genodermatoses
Aug 14, 2026
前言（Introduction）
皮膚科
ichthyosis
erythrokeratoderma
disorders_of_cornification
genodermatoses
Aug 14, 2026
引言（INTRODUCTION）
皮膚科
ichthyosis
erythrokeratoderma
disorders_of_cornification
genodermatoses
genetic_testing
Aug 14, 2026
尋常性魚鱗癬（ICHTHYOSIS VULGARIS）
皮膚科
ichthyosis_vulgaris
flg
filaggrin
keratosis_pilaris
atopic_dermatitis
genodermatoses
Aug 14, 2026
類固醇硫酸酯酶缺乏（STEROID SULFATASE DEFICIENCY）
皮膚科
steroid_sulfatase_deficiency
x_linked_ichthyosis
sts
cholesterol_sulfate
genodermatoses
Aug 14, 2026
表皮溶解性魚鱗癬（EPIDERMOLYTIC ICHTHYOSIS）
皮膚科
epidermolytic_ichthyosis
krt1
krt10
krt2
epidermolytic_hyperkeratosis
genodermatoses
Aug 14, 2026
五彩碎紙樣魚鱗癬（ICHTHYOSIS WITH CONFETTI）
皮膚科
ichthyosis_with_confetti
krt10
krt1
revertant_mosaicism
genodermatoses
Aug 14, 2026
豪豬狀魚鱗癬 Curth–Macklin 型（ICHTHYOSIS HYSTRIX CURTH–MACKLIN）
皮膚科
ichthyosis_hystrix
curth_macklin
krt1
krt10
genodermatoses
Aug 14, 2026
體染色體隱性先天性魚鱗癬（AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS, ARCI）：臨床與基因譜系
皮膚科
arci
tgm1
abca12
alox12b
aloxe3
nipal4
cyp4f22
pnpla1
slc27a4
genodermatoses
Aug 14, 2026
膠樣嬰兒（COLLODION BABY）
皮膚科
collodion_baby
collodion_membrane
tgm1
self_improving_collodion_ichthyosis
genodermatoses
Aug 14, 2026
板層狀魚鱗癬（LAMELLAR ICHTHYOSIS）
皮膚科
lamellar_ichthyosis
tgm1
arci
ectropion
genodermatoses
Aug 14, 2026
先天性魚鱗癬樣紅皮症（CONGENITAL ICHTHYOSIFORM ERYTHRODERMA）
皮膚科
congenital_ichthyosiform_erythroderma
arci
erythroderma
tgm1
genodermatoses
Aug 14, 2026
小丑症魚鱗癬（HARLEQUIN ICHTHYOSIS）
皮膚科
harlequin_ichthyosis
abca12
arci
neonatal_dermatology
genodermatoses
Aug 14, 2026
Netherton 症候群（NETHERTON SYNDROME）
皮膚科
netherton_syndrome
spink5
lekti
trichorrhexis_invaginata
ichthyosis_linearis_circumflexa
genodermatoses
Aug 14, 2026
Sjögren–Larsson 症候群（SJÖGREN–LARSSON SYNDROME）
皮膚科
sjogren_larsson_syndrome
aldh3a2
faldh
neurocutaneous
genodermatoses
Aug 14, 2026
中性脂質儲積症併魚鱗癬（NEUTRAL LIPID STORAGE DISEASE WITH ICHTHYOSIS）
皮膚科
neutral_lipid_storage_disease
chanarin_dorfman_syndrome
abhd5
jordan_anomaly
genodermatoses
Aug 14, 2026
毛髮硫營養不良併魚鱗癬（TRICHOTHIODYSTROPHY WITH ICHTHYOSIS）
皮膚科
trichothiodystrophy
ercc2
ercc3
tfiih
tiger_tail_hair
genodermatoses
Aug 14, 2026
紅斑角化症（ERYTHROKERATODERMAS）
皮膚科
erythrokeratoderma
disorders_of_cornification
genodermatoses
Aug 14, 2026
可變性與進行性紅斑角化症（ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA）
皮膚科
erythrokeratodermia_variabilis
gjb3
gjb4
gja1
connexin
genodermatoses
Aug 14, 2026
角膜炎—魚鱗癬—耳聾症候群（KERATITIS–ICHTHYOSIS–DEAFNESS SYNDROME）
皮膚科
kid_syndrome
gjb2
connexin_26
hid_syndrome
sensorineural_hearing_loss
genodermatoses
Aug 14, 2026
CHILD 症候群（CHILD SYNDROME）
皮膚科
child_syndrome
nsdhl
x_linked_dominant
cholesterol_biosynthesis
mosaicism
lines_of_blaschko
genodermatoses
Aug 14, 2026
Conradi–Hünermann–Happle 症候群（CONRADI–HÜNERMANN–HAPPLE SYNDROME）
皮膚科
conradi_hunermann_happle_syndrome
chondrodysplasia_punctata
ebp
x_linked_dominant
cholesterol_biosynthesis
follicular_atrophoderma
lines_of_blaschko
mend_syndrome
genodermatoses
Aug 14, 2026
其他魚鱗癬、脫皮症候群與相關疾病（OTHER ICHTHYOSES, PEELING SKIN SYNDROMES, AND RELATED DISORDERS）
皮膚科
peeling_skin_syndrome
syndromic_ichthyosis
erythrokeratoderma
genodermatoses
Aug 14, 2026
引言（Introduction）
皮膚科
genodermatoses
palmoplantar_keratoderma
disorders_of_cornification
Aug 14, 2026
引言（INTRODUCTION）
皮膚科
genodermatoses
palmoplantar_keratoderma
disorders_of_cornification
connexin
Aug 14, 2026
無相關特徵之瀰漫型掌蹠角皮症（單獨型、非症候群型）（DIFFUSE PALMOPLANTAR KERATODERMA WITHOUT ASSOCIATED FEATURES (ISOLATED, NON-SYNDROMIC)）
皮膚科
genodermatoses
palmoplantar_keratoderma
epidermolytic_hyperkeratosis
keratin_mutation
Aug 14, 2026
伴隨魚鱗癬之瀰漫型掌蹠角皮症（DIFFUSE PALMOPLANTAR KERATODERMAS WITH ICHTHYOSIS）
皮膚科
genodermatoses
palmoplantar_keratoderma
ichthyosis
cornified_envelope
Aug 14, 2026
伴隨相關特徵／症候群型之瀰漫型掌蹠角皮症（DIFFUSE PALMOPLANTAR KERATODERMAS WITH ASSOCIATED FEATURES/SYNDROMIC）
皮膚科
genodermatoses
palmoplantar_keratoderma
ectodermal_dysplasia
connexin
cardiomyopathy
Aug 14, 2026
無相關特徵之局灶型掌蹠角皮症（單獨型、非症候群型）（FOCAL PALMOPLANTAR KERATODERMA WITHOUT ASSOCIATED FEATURES (ISOLATED, NON-SYNDROMIC)）
皮膚科
genodermatoses
palmoplantar_keratoderma
desmosome
focal_ppk
Aug 14, 2026
伴隨相關特徵／症候群型之局灶型掌蹠角皮症（FOCAL PALMOPLANTAR KERATODERMA WITH ASSOCIATED FEATURES/SYNDROMIC）
皮膚科
genodermatoses
palmoplantar_keratoderma
focal_ppk
keratin_mutation
desmoplakin
Aug 14, 2026
無相關特徵之點狀型掌蹠角皮症（單獨型、非症候群型）（PUNCTATE PALMOPLANTAR KERATODERMA WITHOUT ASSOCIATED FEATURES (ISOLATED, NON-SYNDROMIC)）
皮膚科
genodermatoses
palmoplantar_keratoderma
punctate_ppk
acrokeratoelastoidosis
Aug 14, 2026
伴隨相關特徵／症候群型之點狀型掌蹠角皮症（PUNCTATE PALMOPLANTAR KERATODERMA WITH ASSOCIATED FEATURES/SYNDROMIC）
皮膚科
genodermatoses
palmoplantar_keratoderma
punctate_ppk
ectopic_calcification
Aug 14, 2026
Darier 病（DARIER DISEASE）
皮膚科
darier_disease
atp2a2
serca2
acantholytic_dyskeratosis
keratosis_follicularis
mosaicism
acrokeratosis_verruciformis
genodermatoses
Aug 14, 2026
Hailey–Hailey 病（HAILEY–HAILEY DISEASE）
皮膚科
hailey_hailey_disease
atp2c1
hspca1
acantholysis
familial_benign_chronic_pemphigus
intertriginous
mosaicism
genodermatoses
Aug 14, 2026
前言（INTRODUCTION）
皮膚科
genodermatoses
primary_immunodeficiency
immunology
inherited_disorders
Aug 14, 2026
運動失調－微血管擴張症（ATAXIA–TELANGIECTASIA）
皮膚科
genodermatoses
primary_immunodeficiency
ataxia_telangiectasia
atm
dna_repair_disorder
chromosomal_instability
Aug 14, 2026
慢性黏膜皮膚念珠菌症（CHRONIC MUCOCUTANEOUS CANDIDIASIS）
皮膚科
genodermatoses
primary_immunodeficiency
chronic_mucocutaneous_candidiasis
stat1
il17
apeced
fungal_infection
Aug 14, 2026
軟骨－毛髮發育不全症候群（CARTILAGE–HAIR HYPOPLASIA SYNDROME）
皮膚科
genodermatoses
primary_immunodeficiency
cartilage_hair_hypoplasia
rmrp
skeletal_dysplasia
Aug 14, 2026
Chédiak–Higashi 症候群（CHÉDIAK–HIGASHI SYNDROME）
皮膚科
genodermatoses
primary_immunodeficiency
chediak_higashi_syndrome
lyst
pigmentary_dilution
hemophagocytic_syndrome
Aug 14, 2026
補體疾病（COMPLEMENT DISORDERS）
皮膚科
genodermatoses
primary_immunodeficiency
complement_deficiency
systemic_lupus_erythematosus
neisserial_infection
innate_immunity
Aug 14, 2026
慢性肉芽腫病（CHRONIC GRANULOMATOUS DISEASE）
皮膚科
genodermatoses
primary_immunodeficiency
chronic_granulomatous_disease
nadph_oxidase
phagocyte_disorder
gene_therapy
Aug 14, 2026
高免疫球蛋白 E 症候群（HYPERIMMUNOGLOBULIN E SYNDROMES）
皮膚科
genodermatoses
primary_immunodeficiency
hyper_ige_syndrome
stat3
dock8
cold_abscess
eczematous_dermatitis
Aug 14, 2026
免疫球蛋白缺乏（IMMUNOGLOBULIN DEFICIENCIES）
皮膚科
genodermatoses
primary_immunodeficiency
immunoglobulin_deficiency
agammaglobulinemia
common_variable_immunodeficiency
iga_deficiency
Aug 14, 2026
IPEX 症候群（IPEX SYNDROME）
皮膚科
genodermatoses
primary_immunodeficiency
ipex_syndrome
foxp3
regulatory_t_cells
autoimmune_enteropathy
Aug 14, 2026
白血球黏附缺乏症（LEUKOCYTE ADHESION DEFICIENCY）
皮膚科
genodermatoses
primary_immunodeficiency
leukocyte_adhesion_deficiency
integrin
cd18
periodontitis
Aug 14, 2026
嚴重複合型免疫缺陷與 Omenn 症候群（SEVERE COMBINED IMMUNODEFICIENCY AND OMENN SYNDROME）
皮膚科
genodermatoses
primary_immunodeficiency
severe_combined_immunodeficiency
omenn_syndrome
rag1
rag2
gene_therapy
erythroderma
Aug 14, 2026
Wiskott–Aldrich 症候群（WISKOTT–ALDRICH SYNDROME）
皮膚科
genodermatoses
primary_immunodeficiency
wiskott_aldrich_syndrome
was
thrombocytopenia
eczematous_dermatitis
Aug 14, 2026
前言（INTRODUCTION）
皮膚科
genodermatoses
neurofibromatosis
tuberous_sclerosis_complex
phakomatoses
neurocutaneous_disorders
Aug 14, 2026
第 1 型神經纖維瘤病（NEUROFIBROMATOSIS TYPE 1）
皮膚科
genodermatoses
neurofibromatosis_type_1
nf1
cafe_au_lait_macules
plexiform_neurofibroma
rasopathy
selumetinib
Aug 14, 2026
結節性硬化症複合體（TUBEROUS SCLEROSIS COMPLEX）
皮膚科
genodermatoses
tuberous_sclerosis_complex
tsc1
tsc2
angiofibroma
hypomelanotic_macule
mtor_inhibitor
sirolimus
Aug 14, 2026
緒論（Introduction）
皮膚科
mosaicism
linear_lesions
lines_of_blaschko
genodermatoses
epidermal_nevi
Aug 14, 2026
緒論與歷史（INTRODUCTION AND HISTORY）
皮膚科
mosaicism
lines_of_blaschko
lyonization
postzygotic_mutation
chimerism
genodermatoses
Aug 14, 2026
皮膚鑲嵌現象的模式與致病機轉（PATTERNS AND PATHOGENESIS OF CUTANEOUS MOSAICISM）
皮膚科
mosaicism
lines_of_blaschko
revertant_mosaicism
loss_of_heterozygosity
segmental_disorders
genodermatoses
Aug 14, 2026
X 染色體連鎖生殖系疾病中的功能性鑲嵌現象（FUNCTIONAL MOSAICISM IN X-LINKED GERMLINE DISORDERS）
皮膚科
functional_mosaicism
lyonization
x_linked
lines_of_blaschko
child_syndrome
genodermatoses
Aug 14, 2026
色素失調症（Incontinentia Pigmenti）
皮膚科
incontinentia_pigmenti
x_linked_dominant
ikbkg
nemo
lines_of_blaschko
genodermatoses
Aug 14, 2026
少汗性外胚層發育不良合併免疫缺乏（Hypohidrotic Ectodermal Dysplasia With Immune Deficiency）
皮膚科
ectodermal_dysplasia
immune_deficiency
nemo
genodermatoses
Aug 14, 2026
Goltz syndrome（局部性真皮發育不全）（Goltz Syndrome [Focal Dermal Hypoplasia]）
皮膚科
goltz_syndrome
focal_dermal_hypoplasia
porcn
x_linked_dominant
wnt_signaling
genodermatoses
Aug 14, 2026
Conradi–Hünermann–Happle syndrome（X 染色體連鎖顯性點狀軟骨發育不良）（Conradi–Hünermann–Happle Syndrome [X-Linked Dominant Chondrodysplasia Punctata]）
皮膚科
chondrodysplasia_punctata
ebp
nsdhl
child_syndrome
cholesterol_biosynthesis
genodermatoses
Aug 14, 2026
線狀皮膚缺陷合併多重先天異常（含 MIDAS syndrome）（Linear Skin Defects With Multiple Congenital Anomalies [Including MIDAS Syndrome]）
皮膚科
midas_syndrome
lsdmca
x_linked_dominant
mitochondrial_enzymes
genodermatoses
Aug 14, 2026
第 I 型口－顏－指症候群（Oral–Facial–Digital Syndrome Type I）
皮膚科
oral_facial_digital_syndrome
ofd1
x_linked_dominant
primary_cilia
genodermatoses
Aug 14, 2026
Blaschko 線狀色素減少與色素沉著的 X 染色體連鎖病因（X-linked Etiologies of Blaschko-Linear Hypo- and Hyperpigmentation）
皮膚科
lines_of_blaschko
hyperpigmentation
hypopigmentation
phf6
tfe3
usp9x
genodermatoses
Aug 14, 2026
X 染色體連鎖少汗性外胚層發育不良（女性病人）（X-Linked Hypohidrotic Ectodermal Dysplasia [Female Patients]）
皮膚科
hypohidrotic_ectodermal_dysplasia
x_linked
carrier
lines_of_blaschko
genodermatoses
Aug 14, 2026
Menkes disease（女性帶因者）（Menkes Disease [Female Carriers]）
皮膚科
menkes_disease
x_linked_recessive
pili_torti
copper_metabolism
genodermatoses
Aug 14, 2026
X 染色體連鎖網狀色素疾病（X-Linked Reticulate Pigmentary Disorder）
皮膚科
reticulate_pigmentary_disorder
pola1
x_linked
type_i_interferon
genodermatoses
Aug 14, 2026
表皮痣與相關症候群（EPIDERMAL NEVI AND RELATED SYNDROMES）
皮膚科
epidermal_nevus
nevus_sebaceus
ilven
proteus_syndrome
pros
pik3ca
hras
mosaicism
genodermatoses
Aug 14, 2026
其他體染色體顯性疾病中的鑲嵌現象（MOSAICISM IN OTHER AUTOSOMAL DOMINANT DISORDERS）
皮膚科
mosaicism
darier_disease
hailey_hailey_disease
porokeratosis
neurofibromatosis
tuberous_sclerosis
eccl
genodermatoses
Aug 14, 2026
嵌合現象（CHIMERISM）
皮膚科
chimerism
pigmentation
checkerboard_pattern
genodermatoses
Aug 14, 2026
緒論（Introduction）
皮膚科
genodermatoses
enzyme_deficiency
premature_aging
ectodermal_dysplasia
Aug 14, 2026
多發性內分泌腫瘤（MULTIPLE ENDOCRINE NEOPLASIA）
皮膚科
multiple_endocrine_neoplasia
angiofibroma
collagenoma
mucosal_neuroma
ret
genodermatoses
Aug 14, 2026
PTEN 錯構瘤腫瘤症候群，包括 Cowden syndrome（PTEN HAMARTOMA TUMOR SYNDROME, INCLUDING COWDEN SYNDROME）
皮膚科
pten_hamartoma_tumor_syndrome
cowden_syndrome
tricholemmoma
sclerotic_fibroma
cancer_surveillance
mtor
genodermatoses
Aug 14, 2026
Gardner syndrome（家族性腺瘤性息肉症的變異型）（GARDNER SYNDROME [VARIANT OF FAMILIAL ADENOMATOUS POLYPOSIS]）
皮膚科
gardner_syndrome
familial_adenomatous_polyposis
apc
epidermoid_cyst
desmoid_tumor
osteoma
genodermatoses
Aug 14, 2026
Muir–Torre syndrome（Lynch syndrome 的變異型）（MUIR–TORRE SYNDROME [VARIANT OF LYNCH SYNDROME]）
皮膚科
muir_torre_syndrome
lynch_syndrome
sebaceous_neoplasm
keratoacanthoma
mismatch_repair
microsatellite_instability
genodermatoses
Aug 14, 2026
黑尿症（ALKAPTONURIA）
皮膚科
alkaptonuria
ochronosis
homogentisic_acid
nitisinone
genodermatoses
Aug 14, 2026
生物素酶與全羧化酶合成酶缺乏症（BIOTINIDASE AND HOLOCARBOXYLASE SYNTHETASE DEFICIENCIES）
皮膚科
biotinidase_deficiency
holocarboxylase_synthetase_deficiency
multiple_carboxylase_deficiency
nutritional_dermatitis
biotin
genodermatoses
Aug 14, 2026
Fabry disease（法布瑞氏症）（FABRY DISEASE）
皮膚科
fabry_disease
angiokeratoma
lysosomal_storage_disorder
gla
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
岩藻醣苷貯積症（FUCOSIDOSIS）
皮膚科
fucosidosis
angiokeratoma
lysosomal_storage_disorder
fuca1
genodermatoses
Aug 14, 2026
高雪氏症（GAUCHER DISEASE）
皮膚科
gaucher_disease
lysosomal_storage_disorder
glucocerebrosidase
collodion_baby
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
Hartnup disease（哈特努普病）（HARTNUP DISEASE）
皮膚科
hartnup_disease
photosensitivity
pellagra_like
slc6a19
nicotinamide
genodermatoses
Aug 14, 2026
粒線體疾病（MITOCHONDRIAL DISORDERS）
皮膚科
mitochondrial_disorders
respiratory_chain
oxidative_phosphorylation
hair_shaft_anomalies
genodermatoses
Aug 14, 2026
酸性鞘磷脂酶缺乏症（Niemann–Pick disease）（ACID SPHINGOMYELINASE DEFICIENCY [NIEMANN–PICK DISEASE]）
皮膚科
niemann_pick_disease
acid_sphingomyelinase_deficiency
lysosomal_storage_disorder
olipudase_alfa
genodermatoses
Aug 14, 2026
苯酮尿症（PHENYLKETONURIA）
皮膚科
phenylketonuria
phenylalanine_hydroxylase
pigmentary_dilution
sclerodermoid
newborn_screening
genodermatoses
Aug 14, 2026
早老症候群與皮膚異色症（PREMATURE AGING SYNDROMES AND POIKILODERMAS）
皮膚科
progeroid_syndromes
poikiloderma
rothmund_thomson_syndrome
kindler_syndrome
genodermatoses
Aug 14, 2026
Hutchinson–Gilford progeria syndrome（早老症）（HUTCHINSON–GILFORD PROGERIA SYNDROME）
皮膚科
hutchinson_gilford_progeria_syndrome
lmna
progerin
lonafarnib
farnesyltransferase_inhibitor
nuclear_envelopathy
genodermatoses
Aug 14, 2026
Werner syndrome（成人早老症）（WERNER SYNDROME）
皮膚科
werner_syndrome
wrn
recql2
dna_helicase
progeroid_syndrome
genodermatoses
Aug 14, 2026
外胚層發育不良（ECTODERMAL DYSPLASIAS）
皮膚科
ectodermal_dysplasia
ectodysplasin
wnt_signaling
tp63
wnt10a
genodermatoses
Aug 14, 2026
少汗性外胚層發育不良（HYPOHIDROTIC ECTODERMAL DYSPLASIA）
皮膚科
hypohidrotic_ectodermal_dysplasia
eda
edar
wnt10a
ectodysplasin_pathway
hypodontia
genodermatoses
Aug 14, 2026
少汗性外胚層發育不良合併免疫缺乏（HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY）
皮膚科
hed_id
ikbkg
nemo
nfkbia
immunodeficiency
ectodermal_dysplasia
genodermatoses
Aug 14, 2026
有汗性外胚層發育不良（HIDROTIC ECTODERMAL DYSPLASIA）
皮膚科
hidrotic_ectodermal_dysplasia
clouston_syndrome
gjb6
connexin_30
palmoplantar_keratoderma
nail_dystrophy
genodermatoses
Aug 14, 2026
Witkop tooth and nail syndrome（威特科普齒甲症候群）（WITKOP TOOTH AND NAIL SYNDROME）
皮膚科
witkop_syndrome
tooth_and_nail_syndrome
msx1
hypodontia
nail_dysgenesis
genodermatoses
Aug 14, 2026
瞼緣沾黏－外胚層缺陷－唇顎裂症候群（ANKYLOBLEPHARON–ECTODERMAL DEFECTS–CLEFT LIP/PALATE SYNDROME）
皮膚科
aec_syndrome
hay_wells_syndrome
rapp_hodgkin_syndrome
tp63
sam_domain
erosive_scalp_dermatitis
genodermatoses
Aug 14, 2026
外胚層發育不良－裂指（趾）－唇顎裂症候群（ECTODERMAL DYSPLASIA–ECTRODACTYLY–CLEFTING SYNDROME）
皮膚科
eec_syndrome
tp63
ectrodactyly
split_hand_foot_malformation
ectodermal_dysplasia
genodermatoses
Aug 14, 2026
前言（Introduction）
皮膚科
developmental_anomalies
genodermatoses
neural_tube_defects
aplasia_cutis_congenita
midline_lesions
Aug 14, 2026
遺傳性皮膚病的產前診斷 (Prenatal Diagnosis of Genodermatoses)
皮膚科
genodermatoses
prenatal_diagnosis
chorionic_villus_sampling
amniocentesis
preimplantation_genetic_diagnosis
Aug 14, 2026
危險因子 (Risk Factors)
皮膚科
skin_neoplasms
risk_factors
ultraviolet_radiation
immunosuppression
genodermatoses
field_cancerization
Aug 14, 2026
導論 (Introduction)
皮膚科
genodermatoses
genetics
human_genome
epigenetics
Aug 14, 2026
遺傳性疾病 (Genetic Diseases)
皮膚科
genodermatoses
genetics
mendelian_inheritance
chromosomal_anomalies
Aug 14, 2026
孟德爾遺傳模式 (Mendelian Patterns of Inheritance)
皮膚科
genodermatoses
genetics
mendelian_inheritance
autosomal_dominant
autosomal_recessive
x_linked
Aug 14, 2026
基本孟德爾遺傳模式的例外 (Exceptions to Basic Mendelian Patterns of Inheritance)
皮膚科
genodermatoses
genetics
mendelian_inheritance
penetrance
pseudodominant_inheritance
Aug 14, 2026
表觀遺傳學與印記 (Epigenetics and Imprinting)
皮膚科
genodermatoses
epigenetics
imprinting
uniparental_disomy
dna_methylation
Aug 14, 2026
染色體疾病 (Chromosomal Disorders)
皮膚科
genodermatoses
genetics
chromosomal_disorders
aneuploidy
translocation
karyotype
Aug 14, 2026
複雜遺傳性狀 (Complex Genetic Traits)
皮膚科
genodermatoses
genetics
complex_traits
gwas
twin_studies
Aug 14, 2026
致病基因的鑑定 (Identification of Disease Genes)
皮膚科
genodermatoses
genetics
gene_panel
whole_exome_sequencing
hereditary_cancer_syndromes
Aug 14, 2026
序列變異的解讀 (Interpretation of Sequence Variants)
皮膚科
genodermatoses
genetics
sequence_variants
mutation
acmg_guidelines
sanger_sequencing
Aug 14, 2026
次世代（大規模平行）定序 (Next-Generation [Massively Parallel] Sequencing)
皮膚科
genodermatoses
genetics
next_generation_sequencing
whole_exome_sequencing
whole_genome_sequencing
Aug 14, 2026
遺傳諮詢 (Genetic Counseling)
皮膚科
genodermatoses
genetics
genetic_counseling
genetic_testing
gina
Aug 14, 2026
皮膚科醫師須知的腫瘤遺傳學 (Tumor Genetics for the Dermatologist)
皮膚科
genodermatoses
genetics
tumor_genetics
somatic_mutation
germline_mutation
hereditary_cancer_syndromes
Aug 14, 2026
導論 (Introduction)
皮膚科
genodermatoses
genetics
omim
genotype_phenotype_correlation
mosaicism
Aug 14, 2026
導論 (Introduction)
皮膚科
genodermatoses
genetics
omim
mim_number
molecular_classification
Aug 14, 2026
基因型－表現型關聯 (Genotype–Phenotype Correlations)
皮膚科
genodermatoses
genetics
genotype_phenotype_correlation
allelic_heterogeneity
locus_heterogeneity
Aug 14, 2026
遺傳性皮膚疾病的分子分類 (Molecular Classification of Hereditary Skin Disorders)
皮膚科
genodermatoses
genetics
keratin
desmosome
connexin
rasopathies
wnt_signaling
abc_transporter
Aug 14, 2026
鄰接基因症候群 (Contiguous Gene Syndromes)
皮膚科
genodermatoses
genetics
contiguous_gene_syndrome
chromosomal_deletion
Aug 14, 2026
皮膚鑲嵌現象 (Cutaneous Mosaicism)
皮膚科
genodermatoses
genetics
mosaicism
lines_of_blaschko
lyonization
Aug 14, 2026
回復性鑲嵌現象 (Revertant Mosaicism)
皮膚科
genodermatoses
genetics
revertant_mosaicism
epidermolysis_bullosa
ichthyosis_en_confetti
Aug 14, 2026
染色體疾病 (Chromosomal Disorders)
皮膚科
genodermatoses
genetics
chromosomal_disorders
aneuploidy
down_syndrome
phylloid_hypomelanosis
Aug 14, 2026
由遺傳性皮膚病研究獲得的後天性皮膚疾病洞見 (Insight into Acquired Skin Disorders Provided by the Study of Genodermatoses)
皮膚科
genodermatoses
genetics
filaggrin
atopic_dermatitis
interferonopathy
Aug 14, 2026
產前與植入前基因診斷 (Prenatal and Preimplantation Genetic Diagnosis)
皮膚科
genodermatoses
genetics
prenatal_diagnosis
preimplantation_genetic_diagnosis
Aug 14, 2026
遺傳性皮膚疾病的治療 (Treatment for Hereditary Skin Disorders)
皮膚科
genodermatoses
gene_therapy
crispr
mtor_inhibitor
targeted_therapy
epidermolysis_bullosa
Aug 14, 2026
導論 (Introduction)
皮膚科
genodermatoses
keratinocyte
epidermis
terminal_differentiation
desmosome
Aug 14, 2026
導論 (Introduction)
皮膚科
genodermatoses
keratinocyte
epidermis
epidermal_barrier
terminal_differentiation
Aug 14, 2026
表皮：結構與功能 (The Epidermis: Structure and Function)
皮膚科
genodermatoses
keratinocyte
epidermis
cornified_cell_envelope
transglutaminase
stratum_corneum
Aug 14, 2026
Keratin 中間絲 (Keratin Intermediate Filaments)
皮膚科
genodermatoses
keratin
intermediate_filament
hair_keratin
keratinocyte
Aug 14, 2026
表皮分化 (Epidermal Differentiation)
皮膚科
genodermatoses
keratinocyte
epidermal_differentiation
p63
notch_signaling
calcium_gradient
Aug 14, 2026
角質細胞黏著 (Keratinocyte Adhesion)
皮膚科
genodermatoses
keratinocyte
desmosome
adherens_junction
tight_junction
cadherin
Aug 14, 2026
角質細胞－間質交互作用 (Keratinocyte–Matrix Interactions)
皮膚科
keratinocyte_biology
basement_membrane
integrins
extracellular_matrix
fraser_syndrome
genodermatoses
Aug 14, 2026
相關疾病 (Related Diseases)
皮膚科
keratin_disorders
epidermolysis_bullosa_simplex
epidermolytic_ichthyosis
white_sponge_nevus
filaggrin
ichthyosis_vulgaris
atopic_dermatitis
genodermatoses
Aug 14, 2026
結論 (Conclusion)
皮膚科
keratinocyte_biology
epidermis
mouse_models
sirna
genodermatoses
Aug 14, 2026
導論（Introduction）
皮膚科
ichthyosis
erythrokeratoderma
disorders_of_cornification
genodermatoses
Aug 14, 2026
前言（Introduction）
皮膚科
ichthyosis
erythrokeratoderma
disorders_of_cornification
genodermatoses
genetic_testing
Aug 14, 2026
尋常型魚鱗病（Ichthyosis Vulgaris）
皮膚科
ichthyosis_vulgaris
flg
filaggrin
keratosis_pilaris
atopic_dermatitis
genodermatoses
Aug 14, 2026
類固醇硫酸酯酶缺乏症（Steroid Sulfatase Deficiency）
皮膚科
steroid_sulfatase_deficiency
x_linked_ichthyosis
sts
cholesterol_sulfate
genodermatoses
Aug 14, 2026
表皮鬆解型魚鱗病（Epidermolytic Ichthyosis）
皮膚科
epidermolytic_ichthyosis
krt1
krt10
krt2
epidermolytic_hyperkeratosis
genodermatoses
Aug 14, 2026
彩紙屑樣魚鱗病（Ichthyosis with Confetti）
皮膚科
ichthyosis_with_confetti
krt10
krt1
revertant_mosaicism
genodermatoses
Aug 14, 2026
豪豬狀魚鱗病 Curth–Macklin 型（Ichthyosis Hystrix Curth–Macklin）
皮膚科
ichthyosis_hystrix
curth_macklin
krt1
krt10
genodermatoses
Aug 14, 2026
自體隱性先天性魚鱗病（Autosomal Recessive Congenital Ichthyosis, ARCI）：臨床與基因譜
皮膚科
arci
tgm1
abca12
alox12b
aloxe3
nipal4
cyp4f22
pnpla1
slc27a4
genodermatoses
Aug 14, 2026
膠膜嬰兒（Collodion Baby）
皮膚科
collodion_baby
collodion_membrane
tgm1
self_improving_collodion_ichthyosis
genodermatoses
Aug 14, 2026
板層狀魚鱗病（Lamellar Ichthyosis）
皮膚科
lamellar_ichthyosis
tgm1
arci
ectropion
genodermatoses
Aug 14, 2026
先天性魚鱗病樣紅皮症（Congenital Ichthyosiform Erythroderma）
皮膚科
congenital_ichthyosiform_erythroderma
arci
erythroderma
tgm1
genodermatoses
Aug 14, 2026
小丑魚鱗病（Harlequin Ichthyosis）
皮膚科
harlequin_ichthyosis
abca12
arci
neonatal_dermatology
genodermatoses
Aug 14, 2026
Netherton 症候群（Netherton Syndrome）
皮膚科
netherton_syndrome
spink5
lekti
trichorrhexis_invaginata
ichthyosis_linearis_circumflexa
genodermatoses
Aug 14, 2026
Sjögren–Larsson 症候群（Sjögren–Larsson Syndrome）
皮膚科
sjogren_larsson_syndrome
aldh3a2
faldh
neurocutaneous
genodermatoses
Aug 14, 2026
中性脂質儲積症併魚鱗病（Neutral Lipid Storage Disease with Ichthyosis）
皮膚科
neutral_lipid_storage_disease
chanarin_dorfman_syndrome
abhd5
jordan_anomaly
genodermatoses
Aug 14, 2026
毛髮硫營養不良症併魚鱗病（Trichothiodystrophy with Ichthyosis）
皮膚科
trichothiodystrophy
ercc2
ercc3
tfiih
tiger_tail_hair
genodermatoses
Aug 14, 2026
紅斑角化症（Erythrokeratodermas）
皮膚科
erythrokeratoderma
disorders_of_cornification
genodermatoses
Aug 14, 2026
可變性與進展性紅斑角化症（Erythrokeratodermia Variabilis et Progressiva）
皮膚科
erythrokeratodermia_variabilis
gjb3
gjb4
gja1
connexin
genodermatoses
Aug 14, 2026
角膜炎－魚鱗病－耳聾症候群（Keratitis–Ichthyosis–Deafness Syndrome）
皮膚科
kid_syndrome
gjb2
connexin_26
hid_syndrome
sensorineural_hearing_loss
genodermatoses
Aug 14, 2026
CHILD 症候群（CHILD Syndrome）
皮膚科
child_syndrome
nsdhl
x_linked_dominant
cholesterol_biosynthesis
mosaicism
lines_of_blaschko
genodermatoses
Aug 14, 2026
Conradi–Hünermann–Happle 症候群（Conradi–Hünermann–Happle Syndrome）
皮膚科
conradi_hunermann_happle_syndrome
chondrodysplasia_punctata
ebp
x_linked_dominant
cholesterol_biosynthesis
follicular_atrophoderma
lines_of_blaschko
mend_syndrome
genodermatoses
Aug 14, 2026
其他魚鱗病、脫皮症候群與相關疾病（Other Ichthyoses, Peeling Skin Syndromes, and Related Disorders）
皮膚科
peeling_skin_syndrome
syndromic_ichthyosis
erythrokeratoderma
genodermatoses
Aug 14, 2026
導論（Introduction）
皮膚科
genodermatoses
palmoplantar_keratoderma
disorders_of_cornification
Aug 14, 2026
前言（Introduction）
皮膚科
genodermatoses
palmoplantar_keratoderma
disorders_of_cornification
connexin
Aug 14, 2026
無伴隨特徵的瀰漫型掌蹠角化症（Diffuse Palmoplantar Keratoderma Without Associated Features, Isolated/Non-syndromic）
皮膚科
genodermatoses
palmoplantar_keratoderma
epidermolytic_hyperkeratosis
keratin_mutation
Aug 14, 2026
瀰漫型掌蹠角化症併魚鱗病（Diffuse Palmoplantar Keratodermas with Ichthyosis）
皮膚科
genodermatoses
palmoplantar_keratoderma
ichthyosis
cornified_envelope
Aug 14, 2026
瀰漫型掌蹠角化症併伴隨特徵／症候群型（Diffuse Palmoplantar Keratodermas with Associated Features/Syndromic）
皮膚科
genodermatoses
palmoplantar_keratoderma
ectodermal_dysplasia
connexin
cardiomyopathy
Aug 14, 2026
無伴隨特徵的局限型掌蹠角化症（Focal Palmoplantar Keratoderma Without Associated Features, Isolated/Non-syndromic）
皮膚科
genodermatoses
palmoplantar_keratoderma
desmosome
focal_ppk
Aug 14, 2026
局限型掌蹠角化症併伴隨特徵／症候群型（Focal Palmoplantar Keratoderma with Associated Features/Syndromic）
皮膚科
genodermatoses
palmoplantar_keratoderma
focal_ppk
keratin_mutation
desmoplakin
Aug 14, 2026
無伴隨特徵的點狀型掌蹠角化症（Punctate Palmoplantar Keratoderma Without Associated Features, Isolated/Non-syndromic）
皮膚科
genodermatoses
palmoplantar_keratoderma
punctate_ppk
acrokeratoelastoidosis
Aug 14, 2026
點狀型掌蹠角化症併伴隨特徵／症候群型（Punctate Palmoplantar Keratoderma with Associated Features/Syndromic）
皮膚科
genodermatoses
palmoplantar_keratoderma
punctate_ppk
ectopic_calcification
Aug 14, 2026
Darier 病（Darier Disease）
皮膚科
darier_disease
atp2a2
serca2
acantholytic_dyskeratosis
keratosis_follicularis
mosaicism
acrokeratosis_verruciformis
genodermatoses
Aug 14, 2026
Hailey–Hailey 病（Hailey–Hailey Disease）
皮膚科
hailey_hailey_disease
atp2c1
hspca1
acantholysis
familial_benign_chronic_pemphigus
intertriginous
mosaicism
genodermatoses
Aug 14, 2026
前言（Introduction）
皮膚科
genodermatoses
primary_immunodeficiency
immunology
inherited_disorders
Aug 14, 2026
運動失調－微血管擴張症（Ataxia–Telangiectasia）
皮膚科
genodermatoses
primary_immunodeficiency
ataxia_telangiectasia
atm
dna_repair_disorder
chromosomal_instability
Aug 14, 2026
慢性黏膜皮膚念珠菌症（Chronic Mucocutaneous Candidiasis）
皮膚科
genodermatoses
primary_immunodeficiency
chronic_mucocutaneous_candidiasis
stat1
il17
apeced
fungal_infection
Aug 14, 2026
軟骨－毛髮發育不良症候群（Cartilage–Hair Hypoplasia Syndrome）
皮膚科
genodermatoses
primary_immunodeficiency
cartilage_hair_hypoplasia
rmrp
skeletal_dysplasia
Aug 14, 2026
Chédiak–Higashi 症候群（Chédiak–Higashi Syndrome）
皮膚科
genodermatoses
primary_immunodeficiency
chediak_higashi_syndrome
lyst
pigmentary_dilution
hemophagocytic_syndrome
Aug 14, 2026
補體疾病（Complement Disorders）
皮膚科
genodermatoses
primary_immunodeficiency
complement_deficiency
systemic_lupus_erythematosus
neisserial_infection
innate_immunity
Aug 14, 2026
慢性肉芽腫病（Chronic Granulomatous Disease）
皮膚科
genodermatoses
primary_immunodeficiency
chronic_granulomatous_disease
nadph_oxidase
phagocyte_disorder
gene_therapy
Aug 14, 2026
高免疫球蛋白 E 症候群（Hyperimmunoglobulin E Syndromes）
皮膚科
genodermatoses
primary_immunodeficiency
hyper_ige_syndrome
stat3
dock8
cold_abscess
eczematous_dermatitis
Aug 14, 2026
免疫球蛋白缺乏症（Immunoglobulin Deficiencies）
皮膚科
genodermatoses
primary_immunodeficiency
immunoglobulin_deficiency
agammaglobulinemia
common_variable_immunodeficiency
iga_deficiency
Aug 14, 2026
IPEX 症候群（IPEX Syndrome）
皮膚科
genodermatoses
primary_immunodeficiency
ipex_syndrome
foxp3
regulatory_t_cells
autoimmune_enteropathy
Aug 14, 2026
白血球黏著缺乏症（Leukocyte Adhesion Deficiency）
皮膚科
genodermatoses
primary_immunodeficiency
leukocyte_adhesion_deficiency
integrin
cd18
periodontitis
Aug 14, 2026
嚴重複合型免疫缺乏與 Omenn 症候群（Severe Combined Immunodeficiency and Omenn Syndrome）
皮膚科
genodermatoses
primary_immunodeficiency
severe_combined_immunodeficiency
omenn_syndrome
rag1
rag2
gene_therapy
erythroderma
Aug 14, 2026
Wiskott–Aldrich 症候群（Wiskott–Aldrich Syndrome）
皮膚科
genodermatoses
primary_immunodeficiency
wiskott_aldrich_syndrome
was
thrombocytopenia
eczematous_dermatitis
Aug 14, 2026
前言 (Introduction)
皮膚科
genodermatoses
neurofibromatosis
tuberous_sclerosis_complex
phakomatoses
neurocutaneous_disorders
Aug 14, 2026
第一型神經纖維瘤病 (Neurofibromatosis Type 1)
皮膚科
genodermatoses
neurofibromatosis_type_1
nf1
cafe_au_lait_macules
plexiform_neurofibroma
rasopathy
selumetinib
Aug 14, 2026
結節性硬化症複合體 (Tuberous Sclerosis Complex)
皮膚科
genodermatoses
tuberous_sclerosis_complex
tsc1
tsc2
angiofibroma
hypomelanotic_macule
mtor_inhibitor
sirolimus
Aug 14, 2026
前言 (Introduction)
皮膚科
mosaicism
linear_lesions
lines_of_blaschko
genodermatoses
epidermal_nevi
Aug 14, 2026
前言與歷史 (Introduction and History)
皮膚科
mosaicism
lines_of_blaschko
lyonization
postzygotic_mutation
chimerism
genodermatoses
Aug 14, 2026
皮膚鑲嵌的型態與致病機轉 (Patterns and Pathogenesis of Cutaneous Mosaicism)
皮膚科
mosaicism
lines_of_blaschko
revertant_mosaicism
loss_of_heterozygosity
segmental_disorders
genodermatoses
Aug 14, 2026
X 性聯生殖細胞疾病的功能性鑲嵌 (Functional Mosaicism in X-Linked Germline Disorders)
皮膚科
functional_mosaicism
lyonization
x_linked
lines_of_blaschko
child_syndrome
genodermatoses
Aug 14, 2026
色素失調症 (Incontinentia Pigmenti)
皮膚科
incontinentia_pigmenti
x_linked_dominant
ikbkg
nemo
lines_of_blaschko
genodermatoses
Aug 14, 2026
少汗性表皮發育不良併免疫缺陷 (Hypohidrotic Ectodermal Dysplasia With Immune Deficiency)
皮膚科
ectodermal_dysplasia
immune_deficiency
nemo
genodermatoses
Aug 14, 2026
Goltz 症候群（局部真皮發育不全）(Goltz Syndrome, Focal Dermal Hypoplasia)
皮膚科
goltz_syndrome
focal_dermal_hypoplasia
porcn
x_linked_dominant
wnt_signaling
genodermatoses
Aug 14, 2026
Conradi–Hünermann–Happle 症候群（X 性聯顯性點狀軟骨發育不良）(Conradi–Hünermann–Happle Syndrome, X-Linked Dominant Chondrodysplasia Punctata)
皮膚科
chondrodysplasia_punctata
ebp
nsdhl
child_syndrome
cholesterol_biosynthesis
genodermatoses
Aug 14, 2026
線狀皮膚缺陷併多重先天異常（含 MIDAS 症候群）(Linear Skin Defects With Multiple Congenital Anomalies, Including MIDAS Syndrome)
皮膚科
midas_syndrome
lsdmca
x_linked_dominant
mitochondrial_enzymes
genodermatoses
Aug 14, 2026
第一型口—顏—指症候群 (Oral–Facial–Digital Syndrome Type I)
皮膚科
oral_facial_digital_syndrome
ofd1
x_linked_dominant
primary_cilia
genodermatoses
Aug 14, 2026
Blaschko 線狀色素減退與增加的 X 性聯病因 (X-linked Etiologies of Blaschko-Linear Hypo- and Hyperpigmentation)
皮膚科
lines_of_blaschko
hyperpigmentation
hypopigmentation
phf6
tfe3
usp9x
genodermatoses
Aug 14, 2026
X 性聯少汗性表皮發育不良（女性病人）(X-Linked Hypohidrotic Ectodermal Dysplasia, Female Patients)
皮膚科
hypohidrotic_ectodermal_dysplasia
x_linked
carrier
lines_of_blaschko
genodermatoses
Aug 14, 2026
Menkes 病（女性帶因者）(Menkes Disease, Female Carriers)
皮膚科
menkes_disease
x_linked_recessive
pili_torti
copper_metabolism
genodermatoses
Aug 14, 2026
X 性聯網狀色素疾病 (X-Linked Reticulate Pigmentary Disorder)
皮膚科
reticulate_pigmentary_disorder
pola1
x_linked
type_i_interferon
genodermatoses
Aug 14, 2026
表皮痣與相關症候群 (Epidermal Nevi and Related Syndromes)
皮膚科
epidermal_nevus
nevus_sebaceus
ilven
proteus_syndrome
pros
pik3ca
hras
mosaicism
genodermatoses
Aug 14, 2026
其他體染色體顯性疾病的鑲嵌 (Mosaicism in Other Autosomal Dominant Disorders)
皮膚科
mosaicism
darier_disease
hailey_hailey_disease
porokeratosis
neurofibromatosis
tuberous_sclerosis
eccl
genodermatoses
Aug 14, 2026
嵌合 (Chimerism)
皮膚科
chimerism
pigmentation
checkerboard_pattern
genodermatoses
Aug 14, 2026
前言 (Introduction)
皮膚科
genodermatoses
enzyme_deficiency
premature_aging
ectodermal_dysplasia
Aug 14, 2026
多發性內分泌新生物 (Multiple Endocrine Neoplasia)
皮膚科
multiple_endocrine_neoplasia
angiofibroma
collagenoma
mucosal_neuroma
ret
genodermatoses
Aug 14, 2026
PTEN 錯構瘤腫瘤症候群（含 Cowden 症候群）(PTEN Hamartoma Tumor Syndrome, Including Cowden Syndrome)
皮膚科
pten_hamartoma_tumor_syndrome
cowden_syndrome
tricholemmoma
sclerotic_fibroma
cancer_surveillance
mtor
genodermatoses
Aug 14, 2026
Gardner 症候群（家族性腺瘤性息肉症的變異型）(Gardner Syndrome, Variant of Familial Adenomatous Polyposis)
皮膚科
gardner_syndrome
familial_adenomatous_polyposis
apc
epidermoid_cyst
desmoid_tumor
osteoma
genodermatoses
Aug 14, 2026
Muir–Torre 症候群（Lynch 症候群的變異型）(Muir–Torre Syndrome, Variant of Lynch Syndrome)
皮膚科
muir_torre_syndrome
lynch_syndrome
sebaceous_neoplasm
keratoacanthoma
mismatch_repair
microsatellite_instability
genodermatoses
Aug 14, 2026
黑尿症 (Alkaptonuria)
皮膚科
alkaptonuria
ochronosis
homogentisic_acid
nitisinone
genodermatoses
Aug 14, 2026
生物素酶與全羧化酶合成酶缺乏症 (Biotinidase and Holocarboxylase Synthetase Deficiencies)
皮膚科
biotinidase_deficiency
holocarboxylase_synthetase_deficiency
multiple_carboxylase_deficiency
nutritional_dermatitis
biotin
genodermatoses
Aug 14, 2026
Fabry 病 (Fabry Disease)
皮膚科
fabry_disease
angiokeratoma
lysosomal_storage_disorder
gla
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
岩藻糖苷貯積症 (Fucosidosis)
皮膚科
fucosidosis
angiokeratoma
lysosomal_storage_disorder
fuca1
genodermatoses
Aug 14, 2026
Gaucher 病 (Gaucher Disease)
皮膚科
gaucher_disease
lysosomal_storage_disorder
glucocerebrosidase
collodion_baby
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
Hartnup 病 (Hartnup Disease)
皮膚科
hartnup_disease
photosensitivity
pellagra_like
slc6a19
nicotinamide
genodermatoses
Aug 14, 2026
粒線體疾病 (Mitochondrial Disorders)
皮膚科
mitochondrial_disorders
respiratory_chain
oxidative_phosphorylation
hair_shaft_anomalies
genodermatoses
Aug 14, 2026
酸性鞘磷脂酶缺乏症（Niemann–Pick 病）(Acid Sphingomyelinase Deficiency, Niemann–Pick Disease)
皮膚科
niemann_pick_disease
acid_sphingomyelinase_deficiency
lysosomal_storage_disorder
olipudase_alfa
genodermatoses
Aug 14, 2026
苯酮尿症 (Phenylketonuria)
皮膚科
phenylketonuria
phenylalanine_hydroxylase
pigmentary_dilution
sclerodermoid
newborn_screening
genodermatoses
Aug 14, 2026
早老症候群與異色症 (Premature Aging Syndromes and Poikilodermas)
皮膚科
progeroid_syndromes
poikiloderma
rothmund_thomson_syndrome
kindler_syndrome
genodermatoses
Aug 14, 2026
Hutchinson–Gilford 早老症候群 (Hutchinson–Gilford Progeria Syndrome)
皮膚科
hutchinson_gilford_progeria_syndrome
lmna
progerin
lonafarnib
farnesyltransferase_inhibitor
nuclear_envelopathy
genodermatoses
Aug 14, 2026
Werner 症候群 (Werner Syndrome)
皮膚科
werner_syndrome
wrn
recql2
dna_helicase
progeroid_syndrome
genodermatoses
Aug 14, 2026
表皮發育不良 (Ectodermal Dysplasias)
皮膚科
ectodermal_dysplasia
ectodysplasin
wnt_signaling
tp63
wnt10a
genodermatoses
Aug 14, 2026
少汗性表皮發育不良 (Hypohidrotic Ectodermal Dysplasia)
皮膚科
hypohidrotic_ectodermal_dysplasia
eda
edar
wnt10a
ectodysplasin_pathway
hypodontia
genodermatoses
Aug 14, 2026
少汗性表皮發育不良併免疫缺陷 (Hypohidrotic Ectodermal Dysplasia With Immune Deficiency)
皮膚科
hed_id
ikbkg
nemo
nfkbia
immunodeficiency
ectodermal_dysplasia
genodermatoses
Aug 14, 2026
有汗性表皮發育不良（Clouston 症候群）(Hidrotic Ectodermal Dysplasia, Clouston Syndrome)
皮膚科
hidrotic_ectodermal_dysplasia
clouston_syndrome
gjb6
connexin_30
palmoplantar_keratoderma
nail_dystrophy
genodermatoses
Aug 14, 2026
Witkop 牙齒與指甲症候群 (Witkop Tooth and Nail Syndrome)
皮膚科
witkop_syndrome
tooth_and_nail_syndrome
msx1
hypodontia
nail_dysgenesis
genodermatoses
Aug 14, 2026
眼瞼黏連—表皮缺陷—唇／顎裂症候群 (Ankyloblepharon–Ectodermal Defects–Cleft Lip/Palate Syndrome)
皮膚科
aec_syndrome
hay_wells_syndrome
rapp_hodgkin_syndrome
tp63
sam_domain
erosive_scalp_dermatitis
genodermatoses
Aug 14, 2026
表皮發育不良—缺指趾—裂症候群 (Ectodermal Dysplasia–Ectrodactyly–Clefting Syndrome)
皮膚科
eec_syndrome
tp63
ectrodactyly
split_hand_foot_malformation
ectodermal_dysplasia
genodermatoses
Aug 14, 2026
前言 (Introduction)
皮膚科
developmental_anomalies
genodermatoses
neural_tube_defects
aplasia_cutis_congenita
midline_lesions