Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions Mamaï, Ons et al. Journal of Investigative Dermatology , Volume 135 , Issue 1 , 304 - 308
Abstract:
Familial keratoacanthomas (KAs) are characterized by the appearance of multiple epithelial tumors that are believed to arise from adjoining hair follicles (Schwartz, 1994). These lesions, which phenotypically and histologically resemble squamous cell carcinomas (SCCs) (Cribier et al., 1999), have a fast evolution and spontaneous regression. To date, four familial forms of multiple KAs have been described: (1) multiple self-healing squamous epithelioma (MSSE; Smith, 1948); (2) the Grzybowski syndrome (Grzybowski, 1950); (3) the Witten–Zak syndrome (Witten and Zak, 1952); and 4) the Muir-Torre syndrome (Muir et al., 1967). The Muir-Torre syndrome (MIM#158320) is caused by mutations in the DNA-repair genes MSH2/MLH1
(Bapat et al., 1996; Kruse et al., 1998), and MSSE (MIM#132800) is due to mutations in TGFBR1 (Goudie et al., 2011), but the causative genes underlying the other two familial KAs are still not known.