National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Gingival fibromatosis with hypertrichosis


Other Names:
Hypertrichosis terminalis, generalized, with gingival hyperplasia; Extreme hirsutism with gingival fibromatosis; Hereditary gingival fibromatosis with hypertrichosis
Categories:
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, Julia Pastrana and her infant son, likely had this syndrome.[1] The underlying cause of gingival fibromatosis with hypertrichosis is unknown, but speculated to involve a heritable contiguous gene deletion.[2] 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.[1] 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.[3] Improved understanding regarding the cause, will likely aid in distinguishing these syndromes in the future.[3]
Last updated: 5/16/2013

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 21 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Generalized hirsutism
Excessive hairiness over body
0002230
Gingival fibromatosis 0000169
30%-79% of people have these symptoms
Coarse facial features
Coarse facial appearance
0000280
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
EEG abnormality 0002353
Gingival overgrowth
Gum enlargement
0000212
5%-29% of people have these symptoms
Ataxia 0001251
Bulbous nose 0000414
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Seizure 0001250
Synophrys
Monobrow
Unibrow
[ more ] 		0000664
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] 		0000574
Thick nasal alae 0009928
Wide nasal base
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose
[ more ] 		0012810
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Congenital, generalized hypertrichosis 0004540
Hirsutism
Excessive hairiness
0001007
Hypertrichosis 0000998
Showing of 21 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • 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 Gingival fibromatosis with hypertrichosis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. 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.
  2. 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.
  3. 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.