نتایج جستجو برای: palmoplantar keratoderma of sybert
تعداد نتایج: 21164350 فیلتر نتایج به سال:
We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads. These findings are similar to those previously described in the Bart-Pumphrey syndrome, a rare autosomal dominant disorder. Several conditions including keratoderma and deafness are briefly reviewed.
Keratodermas encompass a wide spectrum of disorders of keratinization that may be acquired or hereditary. We present two cases of focal acral hyperkeratosis (FAH), a subtype of punctate palmoplantar keratoderma. We review the literature and attempt to clarify the confusing classification of the heritable punctate palmoplantar keratodermas.
introduction: papillon-lefèvre syndrome(pls) characterized by palmoplantar hyperkeratosis is a rare autosomal recessive genetic disorder with rapidly progressive periodontitis and premature loss of both deciduous and permanent teeth. in this study, we report the clinical and radiographic features of papillon-lefèvre syndrome in an 11- year-old girl and we also discuss the history and various th...
The palmoplantar keratodermas are a heterogenous group of hereditary disorders of keratinization. They are characterized by epidermal thickening and a yellow waxy appearance of the palms and soles. Genetic studies have linked various forms of palmoplantar keratoderma to markers on chromosomes one, twelve, and seventeen, and several genes have been identified. Primary lymphedema is occasionally ...
Kindler syndrome (KS) is a rare autosomal recessive genodermatosis. We report two cases of KS with classical clinical presentations involving skin and mucus membranes. Clinically, both patients had four major features of KS in the form of acral skin blistering, photosensitivity, progressive poikiloderma, and diffuse cutaneous atrophy. Case 1 had associated features in the form of urethral...
introduction: papillon-lefèvre syndrome(pls) characterized by palmoplantar hyperkeratosis is a rare autosomal recessive genetic disorder with rapidly progressive periodontitis and premature loss of both deciduous and permanent teeth. in this study, we report the clinical and radiographic features of papillon-lefèvre syndrome in an 11- year-old girl and we also discuss the history and various th...
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