Search results for " Palmoplantar"
showing 4 items of 4 documents
Circumscribed palmar or plantar hypokeratosis: a distinctive epidermal malformation of the palms or soles.
2002
Abstract Background: Epidermal malformations of the skin include a group of heterogeneous developmental defects that result from errors in morphogenesis of the epidermis during intrauterine life. Objective: The purpose of this study was to report the clinical and histopathologic features of a distinctive epidermal malformation involving the skin of the palms or soles. Methods: Ten patients were included in this study. All of them showed the same clinical features that consisted of a solitary circumscribed and circular area of erythematous depressed skin on the palm or on the sole. Diagnosis was confirmed by histopathologic study. Results: All patients were middle aged or elderly. Nine patie…
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
2014
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849…
Papillon- Lefevre Syndrome: Report of a case and its management
2012
Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive disorder first described by two French physicians, Papillon and Lefèvre in 1924. The disorder is characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing periodontitis, leading to the premature loss of deciduous and permanent teeth at a very young age. The cutaneous lesions are usually manifested simultaneously with the intra-oral presentations and include keratotic plaques on the palms and soles varying from mild psoriasiform scaly skin to overt hyperkeratosis. The etiopathogenesis of the syndrome is relatively obscure and immunologic, genetic or possible bacterial etiologies have been proposed. …
Residents’corner August 2014. sQUIZ your knowledge!: Persistent papules on the lateral aspects of both palms
2014
A 52 year-old woman, with no relevant past medical history, presented with asymptomatic cutaneous lesions (that had first been noticed fifteen years before). On examination, several 2-3 mm reddish-yellow, well-defined and firm papules were noted on the lateral aspects of both hands (figure 1).What is your diagnosis (figure 1)? The answer is on the next page.The answer to sQuiz: AcrokeratoelastoidosisA biopsy of one of the lesions showed orthokeratotic hyperkeratosis with a central area bearing a [...]