Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:The genodermatoses and their significance in pediatric dermatology. 294 Dec 1

A classification of primary hyperpigmentation conditions is presented. The emphasis is on clinical aspects and an attempt has been made to show, when possible, a spectrum beginning with localized involvement and progressing to the more extensive involvement. Most primary hyperpigmentation conditions and syndromes are inherited by autosomal dominant genetics; notable exceptions include incontinentia pigmenti, classic dyskeratosis congenita, and xeroderma pigmentosum. Early German case reports provide insight into the spectrum of uncommon pigmentary conditions, such as dermatopathia pigmentosa reticularis. The Japanese observe pigmentary problems frequently, have presented some of the more unusual cases, and have recently provided us with much-needed research into the problem of abnormal pigmentation.
 ...
PMID:Primary disorders of hyperpigmentation. 642 Apr 49