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Multiple keratoacanthoma, Ferguson-Smith type

Orpha number ORPHA65748
Prevalence of rare diseases Unknown
Inheritance
  • Autosomal dominant
Age of onset Variable
ICD 10 code
  • D23.9
MIM number
Synonym(s) ESS1
Epithelioma, self-healing squamous, 1
Multiple self-healing squamous epithelioma (MSSE)

Summary

Ferguson Smith multiple keratoacanthoma is a form of familial keratoacanthoma (KA). KA is a benign epithelial tumor of pilosebaceous origin, which is composed of keratinizing squamous cells. The condition is characterized by rapid evolution and, most often, by spontaneous resolution. It is a very rare disorder. KA's usually begin in childhood, adolescence, or in early adult life. Most KA's appear suddenly, principally on the head, slowly involute, and periodically reappear for years. The diagnosis is based on history and physical examination and it is confirmed by histological examination. Ferguson-Smith KA is inherited in an autosomal dominant manner. The responsible gene has been mapped to chromosome 9q22-q31. Although KA's usually involute spontaneously, treatment hastens resolution and provides improved cosmetic results. All therapeutic modalities for solitary KA are applicable also for multiple KA. Systemic approaches such as retinoids, methotrexate, 5-Fluoro-Uracil or interferon alfa-2a have been shown to be effective and promising for the management of multiple KA. *Authors: Dr A.C. Katoulis and Dr E. Bozi (August 2005)*.

Detailed information

Review article
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