Results 71 to 80 of about 1,347 (192)

Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports

Journal of Medical Case Reports, 2010
Introduction Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles.
Mokni Mourad, Boussen Hamouda, Chouchene Ibtissem, Ouechtati Farah, Kassar Selma, Mgaieth Fatma, Charfeddine Cherine, Merdassi Ahlem, Bchetnia Mbarka, Osman Amel, Boubaker Med, Abdelhak Sonia, Elmatri Leila   +12 more
doaj   +1 more source

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 gene (c.467G>A, p.Arg156His).
Elke Smits, Gunnar Naulaers, Maria C. Bolling, Eric Legius, Caroline Colmant   +4 more
wiley   +1 more source

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma

Molecular Genetics & Genomic Medicine, 2019
Background Epidermolytic palmoplantar keratoderma (EPPK) is a rare skin disorder and its pathogenesis and inheritability are unknown. Objective To investigate the inheritance and pathogenesis of EPPK. Methods Two EPPK cases occurred in a three‐generation
Changxing Li, Pingjiao Chen, Silong Sun, Kang Zeng, Jingyao Liang, Qi Wang, Sanquan Zhang, Meinian Xu, Zhijia Li, Xibao Zhang   +9 more
doaj   +1 more source

A Novel Mutation of a Leucine Residue in Coil 1A of Keratin 9 in Epidermolytic Palmoplantar Keratoderma

, 1997
Keratin 9 mutation was examined in a Japanese kindred of epidermolytic palmoplantar keratoderma (EPPK), which is a dominantly inherited autosomal disorder of keratinization characterized by diffuse thickening of the palms and soles and by epidermolytic ...
Endo, Hideharu, Shinkai, Hiroshi, Hatamochi, Atsushi   +2 more
core   +1 more source

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Papillon–Lefèvre syndrome: clinical presentation and management options

Clinical, Cosmetic and Investigational Dentistry, 2015
Basapogu Sreeramulu,1 Naragani DVN Shyam,2 Pilla Ajay,1 Pathipaka Suman1 1Department of Prosthodontics, 2Department of Oral Pathology, Government Dental College and Hospital, Hyderabad, Telangana State, India Abstract: Papillon–Lefèvre ...
Sreeramulu B, Shyam NDVN, Ajay P, Suman P   +3 more
doaj  

A Review of Hand Eczema Subtypes: Clinical Features, Biomarkers and Treatment Strategies

Contact Dermatitis, Volume 92, Issue 6, Page 421-435, June 2025.
ABSTRACT Hand eczema is a common dermatological condition that significantly impairs quality of life. The classification of hand eczema has been considered an essential step for its management. The diagnosis of hand eczema relies on the aetiological and clinical features of hand lesions, a process complicated by the heterogeneous presentations and the ...
David Pesqué, Juan Francisco Silvestre‐Salvador, Ana Carolina Figueiredo, Ramon Maria Pujol, Margarida Gonçalo, Ana María Giménez‐Arnau   +5 more
wiley   +1 more source

A Case Report of Keratoderma and Bilateral Deafness

پزشکی بالینی ابن سینا, 2014
Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation ...
Gholamreza Eshghi, Heshmatollah Babaie, Hasan Faghani   +2 more
doaj  

IL-22/STAT3-Induced Increases in SLURP1 Expression within Psoriatic Lesions Exerts Antimicrobial Effects against Staphylococcus aureus.

PLoS ONE, 2015
BackgroundSLURP1 is the causal gene for Mal de Meleda (MDM), an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma and transgressive keratosis.
Yasuhiro Moriwaki, Kiyoko Takada, Toshinori Nagasaki, Natsuki Kubo, Tomohiro Ishii, Kazuaki Kose, Taihei Kageyama, Shoutaro Tsuji, Koichiro Kawashima, Hidemi Misawa   +9 more
doaj   +1 more source

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene

Molecular Genetics &Genomic Medicine, Volume 13, Issue 5, May 2025.
GJB2 and GJB6 variants, encoding Cx26 and Cx30 respectively, are the most frequently involved genes commonly contributing to hereditary hearing loss either isolated or in combination with skin abnormalities. GJB6 variations are classically associated with two distinct conditions: non‐syndromic hearing loss and hidrotic ectodermal dysplasia, type ...
Badreddine Elmakhzen, Paul Rollier, Clémence Saillard, Benoit Godey, Cédric Le Marechal, Paul Gueguen, Isabelle Fajardy, Sylvie Odent, Laurent Pasquier   +8 more
wiley   +1 more source