Search results for "Palmoplantar keratoderma"
showing 4 items of 4 documents
What’s the resolutive surgery for Pseudo-Ainhum in vohwinkel syndrome? A case report and review of the literature
2021
Vohwinkel Syndrome, also known as Keratoderma Hereditarium Mutilans, is an extremely rare dominant autosomal keratosis. It typically presents with “starfish” keratoses on the knuckles, palmoplantar keratoderma (PPK), hearing impairment and mutilating digital constriction bands (pseudoainhum) that cause strangulation, often leading to autoamputation of the affected digit. Both medical and surgical treatment haven’t shown to date consistent results, in the treatment of pseudoainhum. In this study we present the case of a woman with Vohwinkel syndrome who showed constriction bands causing ischemic changes of the 5th digit of the right hand for which she was treated with surgery. We also presen…
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. …
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
2011
Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Differential diagnoses include Dyskeratosis Congenita (DC) with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutropenia (CPN) due to mutations in the C16orf57 gene. Mutations in the RECQL4 gene are only observed in two thirds of RTS patients. In this study, 10 patients referred for syndromic poikiloderma and negative for RECQL4 sequencing analysis were investigated for C16orf57 mutations. Two C16orf57 heterozygous nonsense mutations (p.W81X and p.Y89X) were identified in a 5-year-old female child presenting with generalized poikiloderma, dental dysplasia,…
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…