The genodermatoses and their significance in pediatric dermatology.
This article presents a detailed discussion of six genetic disorders with major cutaneous manifestations that might commonly be seen by the dermatologist or pediatrician. These include neurofibromatosis, tuberous sclerosis, xeroderma pigmentosum, incontinentia pigmenti, incontinentia pigmenti achromians, and Down's syndrome. The appearance of each disease at birth is described, and all manifestations of each entity are discussed in detail. Disorders with different inheritance patterns were chosen so that important genetic principles could be elucidated. The article concludes with a general discussion of genetic counseling, which draws upon the six genetic diseases for specific examples of important concepts.
D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D009456:Neurofibromatosis 1 / Q000235:genetics; D010859:Pigmentation Disorders / Q000235:genetics; D012871:Skin Diseases / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics; D014402:Tuberous Sclerosis / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000235:genetics