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.
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.
Authors: S Verhoef; C T Schrander-Stumpel; V D Vuzevski; A Tempelaars; L A Jansen; G A Malfeyt; T L Ceelen; D Lindhout; D J Halley; A M van den Ouweland Journal: J Med Genet Date: 1998-10 Impact factor: 6.318
Authors: Katalin Farkas; Barbara Kocsis Deák; Laura Cubells Sánchez; Ana Mercedes Victoria Martínez; Juan José Vilata Corell; Alfredo Montoro Botella; Goitzane Marcaida Benito; Raquel Rodríguez López; Tomas Vanecek; Dmitry V Kazakov; Joan N R Kromosoeto; Ans M W van den Ouweland; János Varga; Márta Széll; Nikoletta Nagy Journal: BMC Genet Date: 2016-02-09 Impact factor: 2.797
Authors: Neil Rajan; James A A Langtry; Alan Ashworth; Catherine Roberts; Pam Chapman; John Burn; Alison H Trainer Journal: Arch Dermatol Date: 2009-11