Results 71 to 80 of about 282,297 (205)

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

Cellular Physiology and Biochemistry, 2018
Background/Aims: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis. It is characterized by diffuse yellow keratoses on the palmoplantar epidermis, with an erythematous border.
Heng Xiao, Yi Guo, Junhui Yi, Hong Xia, Hongbo Xu, Lamei Yuan, Pengzhi Hu, Zhijian Yang, Zhenghao He, Hongwei Lu, Hao Deng   +10 more
doaj   +1 more source

Next‐generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma [PDF]

Experimental Dermatology, 2015
AbstractDiffuse palmoplantar keratoderma (DPPK) is an autosomal‐dominant genodermatosis characterized by restricted, uniform hyperkeratosis on the palm and sole epidermis. DPPK is normally associated with dominant‐negative mutations in the keratin‐encoding gene, KRT1. We report a heterozygous novel point mutation in the exon 6 splice donor site of KRT1
Santasree, Banerjee, Yunqing, Ren, Tianying, Wei, Zhongwei, Zhou, Ping, Yu, Fenghui, Guan, Xiaonming, Wei, Sheng, Ye, Shaofeng, Yan, Min, Zheng, Michael L, Raff, Ming, Qi   +11 more
openaire   +2 more sources

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

Hiperqueratose palmo-plantar epidermolítica (Vörner) relato de caso e revisão da literatura Epidermolytic palmoplantar keratoderma (Vörner type) case report and revision of literature

Anais Brasileiros de Dermatologia, 2002
As queratodermias palmo-plantares familiares são doenças pouco comuns. As manifestações clínicas são variadas e exuberantes, atraindo a atenção dos dermatologistas.
Alexandre Bortoli Machado, Rafael Lenzi Tarnowsky, Roberto Moreira Amorim, Jorge José de Souza Filho, Marcelo Rigatti   +4 more
doaj   +1 more source

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma of the Ichthyosis Hystrix Curth–Macklin Type [PDF]

Journal of Investigative Dermatology, 2006
Keratin gene mutations affecting nonhelical head and tail domains are not usually associated with prominent skin blistering and keratin filament clumping. Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5 ...
Richardson, Elizabeth S., Lee, Jason B., Hyde, Patricia H., Richard, Gabriele   +3 more
openaire   +2 more sources

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

Pediatric Dermatology, Volume 42, Issue 6, Page 1239-1247, November/December 2025.
ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho, Richard M. Haber, Janan Mohamad, Ofer Sarig, Eli Sprecher, Renée Perrier, Dana Boctor, Michele Ramien   +7 more
wiley   +1 more source

Papillon-Lefèvre syndrome with excellent response to risankizumab

Dermatology Reports
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive genodermatosis. It is clinically characterized by diffuse palmoplantar keratoderma (PPK), psoriasiform skin lesions, and rapidly progressive periodontopathy.
Latifah Alibrahim, Sarah Alrashid, Majed Aleissa   +2 more
doaj   +1 more source

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

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

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma

Frontiers in Genetics, 2019
Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the ...
Yuwei Li, Yuwei Li, Lili Tang, Lili Tang, Yang Han, Yang Han, Liyun Zheng, Liyun Zheng, Qi Zhen, Qi Zhen, Sen Yang, Min Gao   +11 more
doaj   +1 more source