نتایج جستجو برای: ulerythema ophryogenes
تعداد نتایج: 13 فیلتر نتایج به سال:
Interstitial deletions of chromosome 12q are rare, with only 11 reported cases in the literature. We recently described two cases with cytogenetically identical interstitial deletions of the long arm of chromosome 12. Here, we report on a third patient, a 26-month-old male with a cytogenetically-identical interstitial deletion: 46,XY,del(12)(q21.2q22). Phenotypic features of this male proband i...
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.
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