X-linked congenital generalized hypertrichosisQ84.2
Synonym(s)
Hypertrichosis congenital generalized X-linked; Hypertrichosis generalized X-bound congenital
HistoryThis section has been translated automatically.
Macias-Flores, 1984
DefinitionThis section has been translated automatically.
Rare, congenital, diffuse hypertrichosis.
EtiopathogenesisThis 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.
ManifestationThis section has been translated automatically.
Already present at birth.
Clinical featuresThis 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.
TherapyThis section has been translated automatically.
No causal therapy known.
LiteratureThis section has been translated automatically.
- Frank J et al (2013) Genetic hair diseases. To update. Dermatologist 64: 830-842.
- Trueb RM (2008) Hypertrichosis. Dermatologist 59: 325-338