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Multiple familial trichoepithelioma 1
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Overview
Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored papules that usually occur on the face, but may also occur on the scalp, neck, and trunk.[1][2] The lesions are derived from immature hair follicles.[2] They may get bigger over time, but they usually do not ulcerate.[1] Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.[1] It is caused by a mutation in the CYLD gene. It is inherited in an autosomal dominant fashion.
References
- Neff AG, Carter KD. Benign Eyelid Lesions. In: Yanoff & Duker. Ophthalmology, 3rd ed. Philadelphia, PA: Mosby; 2008.
- Morelli JG. Tumors of the Skin. In: Kliegman eds. Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders; 2007.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Multiple familial trichoepithelioma 1 have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition. Click on the link to view the information.
- Genetics Home Reference (GHR) contains a gene summary on CYLD. Mutations in CYLD can cause multiple familial trichoepithelioma. Click on the link to go to GHR and review this summary.
- MedlinePlus provides more information on skin conditions in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple familial trichoepithelioma 1. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Multiple familial trichoepithelioma 1. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Bozi E, Katoulis AC. Multiple familial trichoepitheliomas. Orphanet Encyclopedia. 2004.