早老症候群與皮膚異色症（PREMATURE AGING SYNDROMES AND POIKILODERMAS）
Bernard A. Cohen
對罕見早老（progeroid）症候群的研究，帶來了對正常老化過程更佳的理解。不同的早老疾病可藉由其時間病程、相關臨床表現，以及生化與遺傳標記加以區分（表 63.9）。
此孩童亦有身材矮小與光敏感性。由 Sarah Chamlin, MD 提供。
遺傳性先天與兒童期皮膚異色症（poikilodermas），包括 Kindler syndrome（見第 32 章），亦可呈現與老化相關的特徵，並可能被列入早老症候群的鑑別診斷（圖 63.12）。
圖 63-12：一名 3 歲男孩罹患 Rothmund–Thomson syndrome 的顏面皮膚異色症。
Fig. 63.12 Facial poikilo derma in a 3-year-old boy with Rothmund– Thomson syndrome.
表 63-9：早老症候群與遺傳性皮膚異色症。具有皮膚異色症特徵的疾病以陰影標示。遺傳性纖維化皮膚異色症合併肌腱攣縮、肌病變與肺纖維化，源自 FAM111B 的異型合子突變。具早老特徵的鬆弛皮膚症（cutis laxa）與 Ehlers–Danlos syndrome 變異型於第 97 章討論，運動失調－微血管擴張症（ataxia–telangiectasia）則於第 60 章涵蓋。其他罕見的早老疾病包括 Wiedemann–Rautenstrauch（新生兒早老）、Hallermann–Streiff、Lenz–Majewski、Fontaine progeroid、Marbach–Rustad progeroid、Ruijs–Aalfs，以及 SHORT（short stature, hyperextensibility, hernia, ocular depression, Reiger anomaly [角膜與虹膜發育異常], and teething delay）等症候群（www.ncbi.nlm.nih.gov/omim）。AD，體染色體顯性；AR，體染色體隱性；ANAPC1，anaphase promoting complex subunit 1；BANF1，barrier-to-autointegration factor 1；FERMT1，fermitin family homolog 1；MDPL，mandibular hypoplasia, deafness, progeroid features, and lipodystrophy；PDGFRB，platelet-derived growth factor receptor β 基因；POLD1，DNA polymerase δ 1；PPK，掌蹠角皮症；SCC，鱗狀細胞癌；USB1，U6 snRNA biogenesis 1。
Table 63.9 Progeroid syndromes and inherited poikilodermas. Disorders featuring poikiloderma are shaded. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis results from heterozygous mutations in FAM111B. Variants of cutis laxa and Ehlers–Danlos syndrome with progeroid features are discussed in Chapter 97 and ataxia–telangiectasia is covered in Chapter 60. Other rare progeroid conditions include Wiedemann–Rautenstrauch (neonatal progeroid), Hallermann–Streiff, Lenz–Majewski, Fontaine progeroid, Marbach–Rustad progeroid, Ruijs–Aalfs, and SHORT (short stature, hyperextensibility, hernia, ocular depression, Reiger anomaly [dysgenesis of cornea and iris], and teething delay) syndromes (www.ncbi.nlm.nih.gov/omim). AD, autosomal dominant; AR, autosomal recessive; ANAPC1, anaphase promoting complex subunit 1; BANF1, barrier-to-autointegration factor 1; FERMT1, fermitin family homolog 1; MDPL, mandibular hypoplasia, deafness, progeroid features, and lipodystrophy; PDGFRB, platelet-derived growth factor receptor β gene; POLD1, DNA polymerase δ 1; PPK, palmoplantar keratoderma; SCC, squamous cell carcinoma; USB1, U6 snRNA biogenesis 1.