New and recurrent AAGAB mutations in punctate palmoplantar keratoderma [PDF]
, 2014 Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early ...
Boonen, S. E. +9 more
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Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin [PDF]
, 2016 Pityriasis rubra pilaris is a chronic inflammatory dermatosis of unknown etiology and great clinical variability. It has been divided into six categories.
Carvalho, S. +3 more
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Palmoplantar keratoderma, pseudo-ainhum and knuckle pads in an African patient: A case report
SAGE Open Medical Case Reports, 2023 Hereditary palmoplantar keratoderma is a rare heterogenous group of genodermatoses characterised by hyperkeratosis of the palms and soles. Genetic alterations affecting proteins of the keratin cytoskeleton, cornified cell envelope, desmosomes and gap ...
Kellicia Courtney Govender +1 more
doaj +1 more source
Pathogenic FAM83g palmoplantar keratoderma mutations inhibit the PAWS1::Ck1α association and attenuate wnt signalling [PDF]
, 2019 Background: Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively.
A Drozdetskiy +39 more
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Clinical case of a rare form of congenital localized keratoderma [PDF]
Саратовский научно-медицинский журнал, 2016 There a case of a rare form of congenital localized keratoderma is presented. The described case shows an inherited congenital localized keratoderma in an autosomal dominant pattern, associated with the fungal infection ...
Slesarenko N.A. +4 more
doaj
Frequency and type of toenail tumors in the dromedary camel [PDF]
, 2013 A total of 275 dromedary camels (16 males and 259 females) of local “Arabiyat” breed suffering from different types and degrees of severity of toenail tumors were surgically treated.
J. Rashid +4 more
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Hereditary keratoderma. Clinical case: Unna–Toast keratoderma and Buschke–Fischer–Brauer keratoderma
Russian Journal of Skin and Venereal Diseases, 2022 Palmoplantar keratoderma is a heterogeneous group of diseases, both hereditary and acquired, affecting, as a rule, the skin of the palms and soles in the form of focal or diffuse hyperkeratotic layers. Hereditary forms are characterized by a defect in the genes encoding certain structural components of keratinocytes, which leads to the corresponding ...
Olga V. Grabovskaya +3 more
openaire +1 more source
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
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Schopf–Schulz–Passarge syndrome
Indian Dermatology Online Journal, 2018 Schopf–Schulz–Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid ...
Kinjal D Rambhia +3 more
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Diagnosis and Management of Inherited Palmoplantar Keratodermas
Acta Dermato-Venereologica, 2020 Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin.
Bjorn R. Thomas, Edel A. O'Toole
doaj +1 more source