Results 51 to 60 of about 7,515 (243)

Vohwinkel syndrome: ichthyosiform variant in a family [PDF]

Anais Brasileiros de Dermatologia, 2018
: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr, Juliano Peruzzo, Tania Cestari   +2 more
doaj   +1 more source

Naxos Disease [PDF]

, 2005
Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Protonotarios, Nikos, Tsatsopoulou, Adalena   +1 more
core   +2 more sources

Case for diagnosis [PDF]

, 2011
O termo úlcera de Marjolin é usado para designar a transformação maligna que se origina na pele cronicamente lesada. Trata-se de neoplasia mais agressiva do que aquelas não relacionadas com cicatriz e, frequentemente, é subdiagnosticada ou tratada de ...
ALMEIDA, José Roberto Paes de, DINATO, Marcelo Mattos e, DINATO, Sandra Lopes Mattos e, NÓVOA, Estela Gemha de, ROMITI, Ney   +4 more
core   +3 more sources

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia [PDF]

, 2014
IMPORTANCE: Olmsted syndrome (OS) is a rare keratinizing disorder characterized by excessive epidermal thickening of the palms and soles, with clinical and genetic heterogeneity.
Bodemer, Christine, Bole-Feysot, Christine, de Veer, Simon, Duchatelet, Sabine, Fraitag, Sylvie, Hovnanian, Alain, Nitschké, Patrick, Pruvost, Solenn   +7 more
core   +1 more source

Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions

Pediatric Dermatology, EarlyView.
ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Sepideh Hamzehlou, Ryland D. Mortlock, Caroline Echeandia‐Francis, Jing Zhou, Chao Xing, Nnenna G. Agim, Keith A. Choate, Donald A. Glass II   +7 more
wiley   +1 more source

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

Animal Genetics, Volume 57, Issue 1, February 2026.
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 ...
Stefan J. Rietmann, Joseph Malatos, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]

, 2016
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C., Blume-Peytavi, Ulrike, Bourrat, Emmanuelle, Fischer, Judith, Hotz, Alrun, Jonca, Nathalie, Markus, Susanne, Mazereeuw-Hautier, Juliette, Morice-Picard, Fanny, Oji, Vmzenz, Schlipf, Nina, Schoenbuchner, Ines, Stieler, Karola   +12 more
core   +3 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

Genetics and Molecular Biology, 2003
We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads.
Gisele Viana de Oliveira, Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria   +3 more
doaj   +1 more source

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