Familial Multiple Trichodiscomas

Common Name(s)

Familial Multiple Trichodiscomas

Familial multiple discoid fibromas (FMDF) is an autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. Most lesions show a hair at or just outside the periphery, and many have a telangiectatic surface (summary by {3:Starink et al., 2012}). Trichodiscoma, as this lesion was first described by {2:Pinkus et al. (1974)}, is a small benign fibrovascular tumor of the dermal part of the hair disc. The hair disc is a richly vascularized dermal pad in close association with a hair. It is supplied by a thick myelinated nerve and is considered to be a slow-adapting mechanoreceptor. Trichodiscomas are small, flat or dome-shaped, skin-colored, firm papules with a telangiectatic surface. Many of the lesions show a hair at the periphery or just outside it. {3:Starink et al. (2012)} renamed the lesion 'discoid fibroma' as a clarification of the histologic findings. FMDF is similar to, but histologically and genetically distinct from, Birt-Hogg-Dube syndrome (BHD; {135150}), which is characterized by fibrofolliculomas as well as renal and pulmonary cysts.
 

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Condition Specific Organizations

Following organizations serve the condition "Familial Multiple Trichodiscomas" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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