Generalized hypertrichosis terminalis with and without gingival hyperplasia Q84.2

Very rare, autosomal-dominantly inherited disease, which was already introduced in the mid 19th century with the description of Julia Pastrana (1834-1840) (Bondeson J et al. 1993). This disease also found its way into the literature later on (Lee IJ 1993).

Microduplications on chromosome 17q24.2-q24.3 have been detected in 3 Chinese families; this region contains 4 genes: ABCA5 (OMIM 612503); ABCA6 (OMIM 612504); ABC10 (OMIM 612508); MAP2K6 (OMIM 601254).ES is a so-called "contiguous gene syndrome", a syndrome in which the genetic defect comprises several contiguous genes in a chromosomal region that contribute independently to the phenotpy (Frank J 2013).

The entire body is characterized by congenital diffuse hypertrichosis (head and body hair). There are also dysmorphia such as rough facial features and gingival hyperplasia.

1. Bondeson J et al (1993) Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia. At J Med Genet 47:198-212.
2. Frank J et al (2013) Genetic hair diseases. To update. Dermatologist 64: 830-842.
3. Lee IJ et al (1993) Hypertrichosis universalis congenita: a separate entity, or the same disease asgingival
   fibromatosis? Pediatric Dermatol 10:263-266.