Résumé
Brooke-Spiegler Syndrome [BSS] is a rare autosomal dominant disease characterized by the development of multiple adnexal cutaneous tumors such as cylindromas, trichoepitheliomas and spiradenomas. A 49 years old female patient presented with a history of gradual appearance of multiple nodules situated predominantly on the scalp and face. Pathologic examination of lesions revealed cylindroma with foci of spiradenoma. Brooke-Spiegler Syndrome [BSS] caused by various mutations of the cylindromatosis gene [CYLD], a tumor suppressor gene resulting in multiple cylindromas and trichoepitheliomas. Malignant transformation may develop within solitary cylindromas, but more common in multiple variant and requires careful followup surveillance
Sujets)
Humains , Femelle , Tumeurs cutanées , Gènes suppresseurs de tumeur , Carcinome adénoïde kystique , MutationRésumé
Hydroa vacciniforme is a rare acquired photodermatosis which usually presents in childhood. It is characterized by vesicle, crust and scar formation following exposure to sunlight. Vacciniform scars of face and dorsa of the hands are common features but oral ulcers and eye complications also occur rarely. Another rare manifestation of the disease is ear mutilation which is presented in this report