keratosis follicularis spinulosa decalvans: report of a case and literature review
نویسندگان
چکیده
keratosis follicularis spinulosa decalvans (kfsd) represents a rare, probably x-linked recessive genodermatosis, characterized by keratosis pilaris of face, trunk and extremities, followed by atrophy, cicatricial alopecia of the scalp, eyebrows and eyelashes, photophobia and corneal abnormalities. we report a rare case of kfsd and review the literature.
منابع مشابه
Keratosis 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 ...
متن کاملSubstance P in keratosis follicularis spinulosa decalvans
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: 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 ...
متن کاملKeratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare X linked disease which is characterised by follicular hyperkeratosis of the skin and corneal dystrophy. Seven male patients and six female carriers are described. Special attention has been paid to the dermatological and ophthalmic markers of KFSD in patients and carriers. The most prominent features present in the male patients were f...
متن کاملKeratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis.
Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder characterized by scarring alopecia of the scalp and eyebrows in the setting of widespread keratosis pilaris. Less frequent associations are ocular abnormalities and palmoplantar keratoderma. Acne keloidalis nuchae has previously been described in one patient with keratosis follicularis spinulosa decalvans. We report another...
متن کاملRefinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.
X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting the skin and eyes. The disease was previously mapped in an extended Dutch family to Xp21.2-p22.2 between DXS16 and DXS269. Using five DNA probes and 14 CA repeat polymorphisms spanning this region an extensive linkage study was performed in the same pedigree. The highest lod scores were 12.07 for DXS365 (pRX...
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عنوان ژورنال:
acta medica iranicaجلد ۳۷، شماره ۲، صفحات ۱۲۳-۱۲۷
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