1/4. Brooke-Spiegler syndrome.The Brooke-Spiegler syndrome is an autosomal dominant one characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. Within a given family, some members may have cylindromas whereas others may have trichoepitheliomas or both. We describe the coexistence of trichoepithelioma papulosum multiplex (also known as epithelioma adenoides cysticum of Brooke) and cylindromas in a 30-year-old man, and discuss the relationship between these two autosomal dominant syndromes.- - - - - - - - - - ranking = 1keywords = family, member (Clic here for more details about this article) |
2/4. Multiple familial trichoepithelioma: a rare cutaneous tumour.Multiple familial trichoepithelioma (MFT) is a rare autosomal dominant skin disease that present as many small tumours predominantly on the face. We report a case of multiple familial trichoepithelioma occurring in three members of a family. They were diagnosed simultaneously. Only one was treated with medium depth chemical peeling with partial response.- - - - - - - - - - ranking = 1keywords = family, member (Clic here for more details about this article) |
3/4. Familial cutaneous cylindromas: investigations in five generations of a family.BACKGROUND: Multiple cutaneous cylindromas are probably inherited in an autosomal dominant way. OBJECTIVE: Our purpose was to describe a large family with cutaneous cylindromas, trichoepitheliomas, and milia occurring in five generations and to elucidate further the mode of inheritance. methods: We examined 39 family members and obtained information on 31 other members from reports of relatives. RESULTS: The pedigree included 237 members, 118 male and 119 female, with 30 affected patients (11 male, 19 female). Between 33% and 100% of the children of affected family members had one or more of these skin lesions. female-to-female, female-to-male, male-to-female, and male-to-male inheritance occurred. CONCLUSION: Multiple cutaneous cylindromas are inherited in an autosomal dominant way with variable clinical expression. penetrance reaches 100% in adult life. This condition is associated with trichoepitheliomas and milia.- - - - - - - - - - ranking = 6.8661157428253keywords = family, member (Clic here for more details about this article) |
4/4. A Scottish family with Bazex-Dupre-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle characterised by follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, milia, and localised hypohidrosis. Follicular atrophoderma (FA) are follicular funnel shaped depressions, "ice pick marks", seen most commonly on the dorsum of the hands. We describe the first known Scottish family with this syndrome, five affected members spanning three generations. They have hypohidrosis confined to the face, coarse hair, dry skin, milia, and follicular atrophoderma. All the adults have a history of multiple basal cell carcinomas. None of them has any skeletal feature suggestive of Gorlin's syndrome. The clinical features, skin histology, and scanning electron microscopic (SEM) examination of the hair are described and illustrated. The features are compared with 15 previous reports of BDCS and four reports in which this is a possible diagnosis are also reviewed. BDCS should be considered as a differential diagnosis in patients with early onset or familial basal cell carcinomas.- - - - - - - - - - ranking = 4.8214876571004keywords = family, member (Clic here for more details about this article) |