Hamartome folliculaire multiple familial

Abstract

Multiple cystic and proliferative follicular lesions localized on the face and the genitalia of several members of an Italian family are described. Transmission seems to be autosomal dominant, with weak penetration and variable expressivity.

Familial Multiple Basaloid Follicular Hamartomas: A Report of Two Affected Sisters

“…Nevoid basal cell carcinoma syndrome (NBCS, or Gorlin syndrome), an autosomal dominant genodermatosis caused by mutation in the patched tumor suppresser gene (6), manifests with flesh‐colored papules on the face, neck, and scalp which represent early well‐differentiated basal cell carcinomas; therefore, it is important to also differentiate NBCS from familial multiple BFH. Our patients, and most patients reported with multiple BFHs (1,2), do not have any of the other findings associated with NBCS, including medulloblastoma, odontogenic cysts, and palmar pits. However, the possibility still exists that familial multiple BFH represents a forme frust of NBCS (i.e., potentially directly involving the patched gene protein product or some member of its pathway).…”

Multiple basaloid follicular hamartomas associated with acrochordons, seborrhoeic keratoses and chondrosarcoma

“…Brownstein 1 described two siblings with multiple basaloid follicular hamartomas distributed on the face, chest and back, and a mother and son with multiple papules in a similar distribution. In addition, Delacretaz and Balsinger 11 documented a family with multiple papules on the face diagnosed as basaloid follicular hamartomas.…”

Linear basaloid follicular hamartoma on the Blaschko's line of the face

“…The term ‘basaloid follicular hamartoma’ was coined by Mehregan and Baker 2 in 1985. BFH is alleged to assume five different clinical forms: (i) an acquired generalized type with myasthenia gravis and diffuse alopecia; 1 (ii) a generalized type, without any associated diseases; 6 (iii) a congenital generalized type, associated with cystic fibrosis and diffuse alopecia; 7 (iv) a localized linear and unilateral type; 2,3 and (v) a solitary plaque or nodular type 2 (one report 7 of which may represent trichoblastoma arising in nevus sebaceous and another 8 which may be infundibulocystic basal cell carcinoma). Multiple BFH may be cutaneous marker of systemic diseases or more complex familial syndrome.…”