Hypertrichosis universalis congenita Q84.2

Baumeister FA et al. 1993

Rare, familial variant of generalized hypertrichosis. So far, about 50 patients and families with Ambras syndrome are known.

Autosomal dominant inheritance. Pathogenetically, persistence and excessive growth of vellus hairs are assumed. S.a. Hypertrichosis lanuginosa congenita (persistence of lanugo hairs). It is based on a molecular defect with a chromsomal inversion fracture at 8p11.2 and 8q23.1, inv (8) (p11.2q23.1). It was shown that the fracture sites are not located in a coding region of the chromosome. There is a so-called position effect on the TRPSI gene.

At the entire Integument, including the face and the ears, there are up to 25 cm long, dense, silky body hairs. Palms, soles of the feet, lips and prepuce remain free.

While the excessively growing vellus hairs are not replaced by terminal hairs in most regions, terminal hair transformation of the axillary and pubic hairs occurs after puberty, in men also in the face. Frequently deficient dentition, facial dysmorphia with hypertelorism, wide cleft eyelids, shortened lower lip.

Often cranial dysmorphia, as well as hexadactyly and polythelia are also found. Endocrinological disorders are absent.

The affected individuals have gained a dubious fame, as they were publicly displayed as wolf-men at fairs.

1. Baumeister FA et al (1993) Ambras syndrome: delineation of a unique hypertrichosis universalis congenita andassociation
   with a balanced pericentric inversion (8) (p11.2; q22). Clin Genet44:121-128.

2. Frank J et al (2013) Genetic hair diseases. To update. Dermatologist 64: 830-842.

3. Trueb RM (2008) Hypertrichosis. Dermatologist 59: 325-338