Results 81 to 90 of about 14,748 (240)

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, Rakhesh S. V, Thappa Devinder Mohan   +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, Savaş Yaylı, Sevgi Bahadır   +2 more
doaj   +1 more source

Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.

Human Molecular Genetics, 2019
The type I intermediate filament keratin 16 (KRT16 gene; K16 protein) is constitutively expressed in ectoderm-derived appendages and in palmar/plantar epidermis and is robustly induced when the epidermis experiences chemical, mechanical or environmental ...
A. Zieman, Brian G. Poll, Jingqun Ma, P. Coulombe   +3 more
semanticscholar   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

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, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report

Case Reports in Dermatology, 2017
Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface.
Chanisa Kiatsurayanon, Jinda Rojanamatin, Poonawis Sudtikoonaseth, Kowit Kampirapap, Mingkwan Wichaidit, François Niyonsaba   +5 more
doaj   +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

Hereditary Palmoplantar Keratoderma: A Practical Approach to the Diagnosis

Indian Dermatology Online Journal, 2019
The ridged skin of the palms and soles has several unique features: (i) presence of dermatoglyphics created by alternating ridges and grooves forming a unique pattern, (ii) presence of the highest density of eccrine sweat glands and absence of ...
T. Dev, V. Mahajan, G. Sethuraman
semanticscholar   +1 more source

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

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +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, Cyrine Ali Deeb, Tala Dib, Roula Baddour   +3 more
wiley   +1 more source

Palmoplantar keratoderma climactericum successfully treated with topical oestrogen

JEADV Clinical Practice
Keratoderma climactericum is characterized by palmoplantar hyperkeratosis developing after the onset of menopause. Although rare, keratoderma climactericum can profoundly impact quality of life and may be refractory to prescription‐strength topical ...
T. E. Norman, O. Obed, A. Chen, S. D. Worswick   +3 more
doaj   +1 more source