Genetic linkage evaluation of twenty-four loci in an eastern Canadian family segregating Darier's disease (keratosis follicularis)
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چکیده
منابع مشابه
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). We have studied a large British family with KFSD using polymorphic markers from Xp21-p23 and obtained a lod score of 2.056 at theta=0 with markers proximal and distal to the KFSD candidate region Xp22.13-p22.2 identified by Oosterwijk et al. Our data confirm the linkage to ...
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Although the characteristic clinical appearance and the differences in distribution, it is often difficult to differentiate keratosis follicularis squamosa (Dohi) from other keratotic disorders. Here, we describe the case of a 5-year-old boy with Dohi in the first time that by using dermoscopy. Dermoscpoy of the lesion showed typical lotus leaves on the water appearance and follicular plug in t...
متن کاملRare ocular manifestations in keratosis follicularis (Darier–White disease)
Keratosis follicularis (Darier's disease) is a rare (1 in 30,000-100,000) genetic autosomal-dominant predominantly dermatological disorder characterized by hyperkeratosis and acantholysis due to a defective calcium transport in the cells. Ocular findings, if present, are very rare in this condition. Here, we are reporting a case of keratosis follicularis (Darier's disease) with ocular manifesta...
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KFSD: Keratosis folicularis spinulosa decalvans SP: Substance P INTRODUCTION Keratosis follicularis spinulosa decalvans (KFSD) is an inherited rare disorder characterized by diffuse keratosis pilaris and scarring alopecia. Palmoplantar keratoderma, ocular abnormalities, and atopy can also be present. Most cases occur in males and have a X-linked pattern of inheritance, although autosomal domina...
متن کاملKeratosis follicularis spinulosa decalvans: case report.
Keratosis follicularis spinulosa decalvans is a rare disease, with genetic transmission either X-linked or sporadic, characterized by follicular hyperkeratosis and cicatricial alopecia. The disease usually begins in early childhood exacerbating throughout adolescence. The therapies are somewhat effective, with frustrating treatment when there are changes which are predominantly cicatricial. It ...
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ژورنال
عنوان ژورنال: Journal of the American Academy of Dermatology
سال: 1994
ISSN: 0190-9622
DOI: 10.1016/s0190-9622(94)70130-x