Dariers diseasethe clinical features and pathogenesis. Dariers disease dd, also known as keratosis follicularis or darierwhite disease, is a rare disorder of keratinization. Darier white disease is an uncommon genodermatosis that is commonly underrecognized and is characteristically refractory to treatment. Pdf darier disease dd, also known as keratosis follicularis or. They usually first appear in late childhood or early adulthood and often occur on the scalp, forehead, upper arms, chest, back, knees, elbows, andor behind the ear. Morbus darier bilder beim morbus darier handelt es sich. Burge stoke mandevilk hospital, aylesbury, bucks, uk accepted for publication 14 april 1993 tn june, 1889, james c.
It is most frequently due to an autosomal dominant mutation. Dyskeratosis follicularis darierwhite disease is a rare autosomal dominant transmitted disease due to an alteration of keratinization in epidermis, nails and mucosas, with. Dariers disease darierwhite disease or follicular keratosis was described by darier and white in 1889. Objective we report the fourth case and discuss the possible pathogenetic. Dariers disease associated with basal cell carcinomas. Scribd is the worlds largest social reading and publishing site. The differential diagnosis for linear lichen planus is dermatoses, which are also distributed along the lines of blaschko, especially lichen striatus, inflammatory linear verrucous epidermal nevus ilvenlinear psoriasis, blaschkitis and linear darierwhite disease, all of which present histopathological diferences chart 1. Darier white disease is an uncommon disorder, which presents in a localized pattern in about 10% of patients, usually without nail, mucosa, or acral involvement. Dyskeratosis follicularis darierwhite disease is a rare autosomal dominant transmitted disease due to an alteration of keratinization in epidermis, nails and mucosas, with a loss of adhesion between epidermal cells.
Dariers disease is an autosomaldominant inherited disorder with pathogenic changes of keratinization with various forms of cutaneous phenotypes. The disease is caused by a lossoffunction mutation in the atp2a2 gene on chromosome 12q2324 that encodes the. Dd, also known as dyskeratosis follicularis, keratosis follicularis, or darier white. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Vitiligo and other hypomelanoses of hair and skin pdf. Medicina cutanea vol 38 nros 56 2010 by cilad issuu. Dd, also known as dyskeratosis follicularis, keratosis follicularis, or darierwhite. Dariers diseasethe clinical features and pathogenesis dariers diseasethe clinical features and pathogenesis burge, s.
White, professor of dermatology at harvard university, usa published the following case report describing an unusual skin disease in. Darierwhite disease is an uncommon genodermatosis that is commonly underrecognized and is characteristically refractory to treatment. Clinical case of acral hemorrhagic dariers disease is not caused by mutations in exon 15 of the atp2a2 gene. The estimated prevalence of dariers disease is 1 in 55,000 to 100,000 individuals. Dariers disease affecting the arm wellcome l0061917. Dariers disease associated with basal cell carcinomas dariers disease associated with basal cell carcinomas russo, francisco. Other features of darier disease may include nail abnormalities, such as red and. A case report with a special consideration of diferential diagnoses.
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