Results 71 to 80 of about 7,515 (243)
Ectodermal dysplasia-skin fragility syndrome: A rare case report
Indian Journal of Dermatology, 2015 Ectodermal dysplasia/skin fragility syndrome (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating ...
Subhash Kashyap +2 more
doaj +1 more source
p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response. [PDF]
, 2018 Hyperproliferative keratinocytes induced by trauma, hyperkeratosis and/or inflammation display molecular signatures similar to those of palmoplantar epidermis.
Arcidiacono, P +9 more
core +2 more sources
Bullous Congenitalichthyosiform Erythroderma - PS 1 Type
Indian Journal of Dermatology, 2003 We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya +2 more
doaj
Mal de Meleda: A late-diagnosed family with a pathogenic variant not reported from Turkey
Turkderm Turkish Archives of Dermatology and Venereology, 2021 Mal de Meleda (MDM), also called keratoderma palmoplantaris transgrediens, is a rare autosomal recessive palmoplantar keratoderma with an estimated prevalence of 1: 100,000. Genetic mutations affecting SLURP-1 play a role in MDM.
Zeynep Karaca +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
Role of genetic aspect in pathogenesis of atopic dermatitis [PDF]
, 2013 The pathogenesis of atopic dermatitis (AD) is a very complicated process that involves an intricate array of molecules. Nowadays it is generally accepted that cytokines play an important role in the progression of the clinical presentation of atopic ...
Wesserling Martyna
core +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus +7 more
wiley +1 more source
Kindler Syndrome: A Case Report From a Developing Country
Clinical Case Reports, Volume 13, Issue 11, November 2025.ABSTRACT Kindler syndrome can be diagnosed clinically even in the absence of genetic testing. Early recognition of the disease, combined with regular surveillance for malignancy and a multidisciplinary approach that includes attention to psychosexual health, is essential for improving patient outcomes, enhancing quality of life, and promoting social ...
Munawar Hraib +3 more
wiley +1 more source
Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB. [PDF]
, 2015 Pityriasis rubra pilaris (PRP) is a rare inflammatory papulo-squamous disorder manifesting with palmoplantar keratoderma and follicular hyperkeratotic papules which tend to coalesce into large, scaly, erythematous plaques often progressing to exfoliative
Andrews, Jonathan +9 more
core +2 more sources
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death [PDF]
, 2018 Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated patients and investigated its cellular ...
Alboulshi, A. K. +9 more
core +5 more sources