P7  MARIE UNNA HEREDITARY HYPOTRICHOSIS: FIRST AUSTRALIAN FAMILY

^1,3Jack Green, ²David de Berker, ¹Rod Sinclair; ¹Department of Dermatology, St.Vincent’s Hospital, Melbourne, Australia; ²Bristol Royal Infirmary Bristol; England; ³Murdoch Childrens Research Institute, Melbourne, Australia

Marie Unna Hereditary Hypotrichosis (MUHH) is a hair disorder, which causes progressive alopecia and segregates in an autosomal dominant fashion. Dr. Marie Unna first described it in 1925 in a large northern German family of 27 affected members over seven generations.

We have identified a family of Scottish descent, which have had at least 18 affected members over six generations.  We have examined the Australian arm of this family identifying seven affected members over three generations.

Compared with previous reports, this family displays a milder phenotype.  Onset of alopecia occurs in the late 2nd decade or early 3rd decade. Eyebrows are either preserved or only mildly affected.  In some affected individuals, body hair is normal with one affected male displaying a beard of normal density.

Examination revealed varying degrees of associated onycholysis in all those affected (n=7). Some of these individuals also had koilonychia (n=4).

Two of the affected had cleft palate.  Two affected ancestors also had cleft palate. This feature was not found in unaffected individuals.

Given that the genetic locus causing this disorder has been linked to chromosome 8p21, this milder divergent phenotype might represent a mutational variant.