[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.