[What is new in genetically-induced hair diseases?].

Abstract

A profound knowledge of specific genetically determined anomalies of the hair may be of considerable value in the diagnosis of genetic syndromes. We give a review of a few recent developments in the field of genetic hair diseases. For example, the brittle hair due to sulphur deficiency (trichothiodystrophy) is nowadays regarded as genetically heterogeneous; three different syndromes can be distinguished: BIDS syndrome, Tay syndrome, and PIBIDS syndrome. Polarization microscopy revealed a striking resemblance of the hair anomalies found in trichothiodystrophy syndromes and those in acrodermatitis enteropathica. This surprising result indicates similar pathophysiological mechanisms. The Comèl-Netherton syndrome--long regarded as representing two different diseases--has recently been recognized as a clinically variable, but genetically homogeneous syndrome, which is most likely based on a single mutation ("lumping"). Minor's sweat test allows the recognition of women heterozygous for X-linked hypohidrotic ectodermal dysplasia and may help to appreciate seemingly non-specific hair findings, such as diffuse alopecia.

• Authors: H Traupe, H Hamm
• Journal: Zeitschrift fur Hautkrankheiten (Z Hautkr) Vol. 65 Issue 12 Pg. 1085-91 (Dec 1990) ISSN: 0301-0481 [Print] Germany
• Vernacular Title: Was gibt es Neues bei den genetisch bedingten Haarerkrankungen?
• PMID: 2087835 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Sulfur

Topics

• Ectodermal Dysplasia (genetics)
• Genetic Carrier Screening
• Hair Diseases (diagnosis, genetics)
• Humans
• Ichthyosis, X-Linked (diagnosis, genetics)
• Sulfur (deficiency)
• Syndrome