Generalized hypertrichosis terminalis with and without gingival hyperplasiaQ84.2
Synonym(s)
DefinitionThis section has been translated automatically.
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).
EtiopathogenesisThis section has been translated automatically.
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).
Clinical featuresThis section has been translated automatically.
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.
LiteratureThis section has been translated automatically.
- 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.
- Frank J et al (2013) Genetic hair diseases. To update. Dermatologist 64: 830-842.
- Lee IJ et al (1993) Hypertrichosis universalis congenita: a separate entity, or the same disease asgingival
fibromatosis? Pediatric Dermatol 10:263-266.