A Scottish family with Bazex-Dupre-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.
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A Scottish family with Bazex-Dupré-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 wi...
متن کاملBazex-Dupre-Christol syndrome: A case report
Bazex-Dupre-Christol (BDC) syndrome is clinically characterizedby multiple basal cell carcinomas of the face that mainly occurduring the second and third decade of life, follicular atrophodermapredominantly of the dorsum sides of the hands and feetand generalized hypotrichosis; sometimes with pili torti andtrichorrhexis nodosa. Features commonly associated with BDCare milia, hypohidrosis and ca...
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Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...
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reasonable adult dose and, for this child, 1 mg kg. There are no available data concerning the likely absorption of corticosteroid from a topical preparation such as Eumovate in a child of this age; however, it would be a coincidence if this event were not involved in the development of GPP in this case. While unlikely to be a common occurrence in everyday clinical practice it does appear that ...
متن کاملnaevoid basal cell carcinoma syndrome
nevoid basal cell carcinoma syndrome (nbccs), also known as gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms . the estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. main clinical manifestations include multiple basal cell carcinomas (bccs), odontogenic keratocysts o...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1996
ISSN: 1468-6244
DOI: 10.1136/jmg.33.6.493