Gingival fibromatosis with hypertrichosis
Other Names for this Disease
- Congenital generalized hypertrichosis terminalis
- Extreme hirsutism with gingival fibromatosis
- Gingival fibromatosis-hypertrichosis syndrome
- Hereditary gingival fibromatosis with hypertrichosis
Julia Pastrana and her infant son, likely had this syndrome. The underlying cause of gingival fibromatosis with hypertrichosis is unknown, but speculated to involve a heritable contiguous gene deletion. Gingival fibromatosis with hypertrichosis can be inhertied from an affected parent or occur for the first time in a family due to a new (spontaneous) genetic change in the affected person. An autosomal dominant pattern of inheritance has been demonstrated in individual families. The signs and symptoms of gingival fibromatosis with hypertrichosis overlap with a number of other gum overgrowth syndromes, such as Laband syndrome, juvenile hyaline fibromatosis and Jones syndrome. Improved understanding regarding the cause, will likely aid in distinguishing these syndromes in the future.Gingival fibromatosis with hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features. Signs and symptoms may be present from birth or begin in later childhood to adolescence. The historical figure,
Last updated: 5/16/2013
- Hypertrichosis terminalis, generalized, with or without gingival hyperplasia. Online Mendelian Inheritance in Man. July 24, 2009; http://omim.org/entry/135400. Accessed 5/16/2013.
- Lin Z, Wang T, Sun G, Huang X. Report of a case of Zimmermann-Laband syndrome with new manifestations. Int J Oral Maxillofac Surg. 2010 Sep;39(9):937-41; http://www.ncbi.nlm.nih.gov/pubmed/20457511. Accessed 5/16/2013.
- Haytac MC, Ozcelik O, Turkey A. The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:521–527; http://www.ncbi.nlm.nih.gov/pubmed/17395066. Accessed 5/16/2013.
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- 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.
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