X-linked congenital generalized hypertrichosis
Other Names for this Disease
- Macias-Flores Garcia-Cruz Rivera syndrome
- Chromosome Xq27.1 interchromosomal insertion syndrome
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X-linked congenital generalized hypertrichosis is a rare congenital (present at birth) skin disease. It is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with mild facial abnormalities (including nasal openings that are tipped upwards and moderate protrusion of the jaw) and occasional teeth anomalies and deafness. It is caused by a specific abnormality of the X chromosome. Inheritance is X-linked. It is important to know if the disease occurs alone (is an isolated form), or if it is part of a genetic syndrome. Treatment includes standard methods for hair removal such as shaving, laser hair removal, electrolysis, chemical methods and others.
Last updated: 7/4/2016
- Hypertrichosis, congenital generalized. OMIM. 2015; http://omim.org/entry/307150#.
- X-linked congenital generalized hypertrichosis. Orphanet. 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79495.
- PavoneP & cols. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. Italian Journal of Pediatrics. 2015; 41:55. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526284/.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked congenital generalized hypertrichosis. Click on the link to view a sample search on this topic.