نتایج جستجو برای: keratoderma
تعداد نتایج: 755 فیلتر نتایج به سال:
florid cutaneous papillomatosis (fcp), is a rare cutaneous marker of internal malignancy. the underlying cancer is usually intra-abdominal (most often gastric in origin), and evolves parallel to the fcp. there is a common association between fcp and the other two eruptive paraneoplastic syndromes, i.e.malignant acanthosis nigricans and the sign of leser-trelat. it seems possible that these synd...
Background Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis the palms and soles, occasional additional manifestations in other tissues. Mutations at least 69 genes have been implicated PPK, but further novel candidate mutations are still to be found. Objectives To identify underlying PPK cohort 64 patients. Methods D...
Aquagenic palmoplantar keratoderma (APPK) classically presents as exaggerated wrinkling of the palms after brief immersion in water that lasts 10 minutes to a few hours. We present case report 19-year-old female who presented with peeling, sensitivity, and pain on her palmar hands, most prominently fingertips, persists for several an hour touching water. This highlights unique presentation APPK...
BACKGROUND Numerous therapeutic modalities have been proposed to treat the manifestations of pachyonychia congenita (PC). While research hopes lie with molecular therapies, patients are in need of answers regarding the efficacy of conventional treatments. AIM OF THE STUDY To determine patients' experience and preferences regarding conventional treatments for PC. METHODS The study population...
BACKGROUND Pachyonychia congenita (PC) is a group of autosomal dominant keratinizing disorders caused by a mutation in one of 4 keratin genes. Previous classification schemes have relied on data from case series and case reports. Most patients in these reports were not genetically tested for PC. OBJECTIVE We sought to clarify the prevalence of clinical features associated with PC. METHODS W...
Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Moreover, affected families have been identified in other Aegean islands, Turkey, Israel an...
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...
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