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.


CONCLUSIONS
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.
Gerretsen
A L
AL
Department of Dermatology, University Hospital Utrecht, The Netherlands.
Beemer
F A
FA
Deenstra
W
W
Hennekam
F A
FA
van Vloten
W A
WA
D000236:Adenoma / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D018295:Neoplasms, Basal Cell / Q000235:genetics* / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000473:pathology; D009426:Netherlands / Q000453:epidemiology; D010375:Pedigree; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology