Results 11 to 20 of about 8,727 (222)

Spiny keratoderma [PDF]

Dermatology Online Journal, 2020
Spiny keratoderma is a rare entity characterized by filiform keratotic lesions on palms and soles. Although there are some inherited cases the majority are acquired. This last variant can be idiopathic or associated with neoplasms and chronic systemic diseases. We report a new case of spiny keratoderma associated with endometrial carcinoma.
Corral, M, Paret, C, Iglesias, M, Amores, E, Fernández, MT, Salleras, M   +5 more
openaire   +4 more sources

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]

Anim Genet
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Rietmann SJ, Malatos J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E, van Geel M, Verhoeven VJ, Koudijs SM, Boerman GH, Tjiam AM, van der Lugt NM, Pasmans SG.   +7 more
europepmc   +2 more sources

Spiny keratoderma [PDF]

Dermatology Online Journal, 2013
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.
Nagler, Arielle, Boyd, Kevin P, Patel, Rishi R, Lee, Hyun-soo   +3 more
openaire   +4 more sources

Clathrin Adaptor Complex-interacting Protein Irc6 Functions through the Conserved C-Terminal Domain. [PDF]

, 2019
Clathrin coats drive transport vesicle formation from the plasma membrane and in pathways between the trans-Golgi network (TGN) and endosomes. Clathrin adaptors play central roles orchestrating assembly of clathrin coats.
Costaguta, Giancarlo, Payne, Gregory S, Zhou, Huajun   +2 more
core   +2 more sources

Mal de Meleda with lip involvement: A report of two cases

Indian Journal of Dermatology, 2012
Mal de Meleda is a rare autosomal recessive transgradient palmoplantar keratoderma characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for ...
Amiya Kumar Nath, Sangita Chaudhuri, Devinder Mohan Thappa   +2 more
doaj   +1 more source

CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature [PDF]

, 2017
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In
Coughlin, Carrie C, Fiala, Elise, Hsu, Tina, McKinstry, Robert C, Monaghan, Kristin G, Paciorkowski, Alex R, Shinawi, Marwan   +6 more
core   +3 more sources

Plantar Lichen Planus [PDF]

Clin Case Rep
ABSTRACT Plantar Lichen Planus is a rare and often underrecognized variant of Lichen Planus that can mimic pityriasis rubra pilaris and psoriasis clinically. Accurate diagnosis relies on clinicopathological correlation, and a high index of suspicion is essential in atypical or treatment resistant plantar dermatoses for appropriate management.
Uprety S, Thapa P, Lamichhane P, Jaiswal S.   +3 more
europepmc   +2 more sources

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, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
core   +1 more source

Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening [PDF]

, 2017
INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology
Almutawa, Armstrong, Dua-Awereh, Harmon, Has, Hershkovitz, Hunt, Irvine, Itin, Keren, Klijuic, McAleer, Milingou, Nomura, Samuelov, Wan, Whittock   +16 more
core   +2 more sources