نتایج جستجو برای: keratoderma
تعداد نتایج: 755 فیلتر نتایج به سال:
BACKGROUND Hereditary palmoplantar keratodermas (HPPK) are relatively frequent in Slovenia; however, the papulosa type of HPPK is rare. Epidemiological data are scarce; a population study in Croatia revealed a prevalence of 1.17/100,000 inhabitants. According to the preliminary data, it seems that HPPK papulosa is more common in Slovenia than in other countries. Efforts were made to identify al...
Pachyonychia congenital (PC), is a rare genetic disorder, autosomal dominant, disorder of keratinization. This condition characterized by cutaneous manifestation mainly hyperkeratosis skin and mucosae hypertrophy nails. In this condition, almost 50% the patients will have oral leukokeratosis. The case report here 15 years old girl, presented with dystrophic, thickened fingernails toenails subun...
DESCRIPTION We report the case of a 28-year-old man presenting to our hospital with refractory diffuse hyperkeratosis of palms and soles. He reported first appearance in early childhood. His first-born daughter also developed hyperkeratosis on palms and soles directly after birth. No other family member seems to be affected by similar skin lesions. Clinically, our patient presented diffuse hype...
BACKGROUND Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause a...
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