X-linked congenital generalized hypertrichosis Q84.2

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Hypertrichosis congenital generalized X-linked; Hypertrichosis generalized X-bound congenital

History
This section has been translated automatically.

Macias-Flores, 1984

Definition
This section has been translated automatically.

Rare, congenital, diffuse hypertrichosis.

Etiopathogenesis
This section has been translated automatically.

Microduplication of the COL23A1 gene located on chromosome 5q35.3. The two breakpoints of the chromosome section are located in the centre of a palindrome (palindrome = DNA section. which reads the same both forward and backward). The defect leads to a reduced function of the genes that influence fibroblast growth.

Manifestation
This section has been translated automatically.

Already present at birth.

Clinical features
This section has been translated automatically.

In former times, the patients were also called "hair, dog, monkey or lion people". On the whole integument there are long, dense, silky body hairs. Lanugo hair persistence. Palms, soles and prepuce remain free. These hairs gradually fall out starting at the trunk after the 1st year of life. Furthermore, dental anomalies such as hypodontia or late teething may be present.

Therapy
This section has been translated automatically.

No causal therapy known.

Literature
This section has been translated automatically.

  1. Frank J et al (2013) Genetic hair diseases. To update. Dermatologist 64: 830-842.
  2. Trueb RM (2008) Hypertrichosis. Dermatologist 59: 325-338

Outgoing links (1)

Lanugo hair;

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 29.10.2020