Introduction
Other Genodermatoses 63
Susan J. Bayliss, Monique G. Kumar, Ángela Hernández-Martín, Bernard A. Cohen, Teresa Martínez-Menchón,
Chapter Contents
Biotinidase and Holocarboxylase Synthetase Deficiencies . . 1044
Acid Sphingomyelinase Deficiency (Niemann–Pick Disease) 1048
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 1059
Ectodermal Dysplasia–Ectrodactyly–Clefting Syndrome … 1062
Introduction
In this chapter, a number of genodermatoses are discussed that are not covered in other chapters of this textbook (Table 63.1).
Disorders characterized by cutaneous or mucosal tumors in conjunction with a variety of extracutaneous neoplasias, both benign and malignant, as well as endocrine abnormalities are the focus of the first section. It includes multiple endocrine neoplasia types 1, 2 A, and 2B in addition to PTEN hamartoma tumor syndrome (including Cowden syndrome), Gardner syndrome, and Muir–Torre syndrome. This is followed by sections on: enzyme deficiencies; premature aging syndromes and poikilodermas; and ectodermal dysplasias.
Table 63.1 Genodermatoses. See also Chapter 55.