نتایج جستجو برای: palmoplantar keratoderma
تعداد نتایج: 1690 فیلتر نتایج به سال:
A 61 year old woman was investigated for a 12 month history of progressive thickening of the skin of her palms and soles. She had also complained of diarrhoea, exertional breathlessness and cough, and weight loss. There was no relevant past medical history or family history, but she had a 45 pack year history of cigarette smoking. Physical examination revealed diffuse hyperkeratosis of the palm...
Mutations in genes encoding for desmosomal components are associated with a broad spectrum of phenotypes comprising skin and hair abnormalities and account for 45-50% of cases of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 dominant and recessive desmoplakin (DSP) gene mutations have been reported to be associated with skin, hair and/or heart defects. Here we report on ...
Olmsted syndrome (OS) is a rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching. The genetic basis for OS remained unidentified. Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p.Gly573Ser in an individual with OS. Nucleotide sequencing of five ad...
TO THE EDITOR Pityriasis rubra pilaris (PRP) is a rare inflammatory papulosquamous disorder manifesting with palmoplantar keratoderma and follicular hyperkeratotic papules that tend to coalesce into large, scaly, erythematous plaques often progressing to exfoliative erythroderma (Klein et al., 2010; Petrof et al., 2013). PRP is often misdiagnosed as psoriasis, a more common papulosquamous infla...
We present a case of a 48-year-old man with an approximately 30-year history of spiny projections on the palms, which were histopathologically consistent with spiny keratoderma. Spiny keratoderma is a rare entity of unknown etiology that has been described with both hereditary and acquired variants. The hereditary form, which is most likely the diagnosis in our patient, manifests at a younger a...
Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK. Since its pathogenesis remains unclear, it is important to clarify the mode of inheritance. Here, we present a case of possible Nagashima-type PPK in 2 siblings. The siblings ...
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