Results 1 to 10 of about 849 (140)

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

Clinical Case Reports
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 ...
Elke Smits, Gunnar Naulaers, Maria C. Bolling, Eric Legius, Caroline Colmant   +4 more
doaj   +3 more sources

Epidermolytic hyperkeratosis of the vulva: Case report and review of the literature [PDF]

Skin Health and Disease
Epidermolytic hyperkeratosis is a rare histopathological phenomenon which has been reported in a number of dermatological conditions. It is rare but can cause chronic and intractable symptoms which can impede the quality of life of those affected ...
Dilshad Sachedina, Camila Villa‐Ruiz, Candice Brem, Debjani Sahni   +3 more
doaj   +3 more sources

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report [PDF]

Clinical Case Reports
Key Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1).
Kevin Koschitzki, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml   +8 more
doaj   +3 more sources

Epidermolytic Hyperkeratosis - case report [PDF]

Anais Brasileiros de Dermatologia, 2015
: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm ...
Marcos Takeyoshi Hayashida, Grasiela Lissa Mitsui, Natalia Ivanoff dos Reis, Giovana Fantinato, Domingos Jordão Neto, Ana Maria da Cunha Mercante   +5 more
doaj   +5 more sources

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report [PDF]

Frontiers in Medicine
Palmoplantar keratoderma (PPK) represents a heterogeneous group of disorders characterized by hyperkeratosis of the palms and soles. Epidermolytic palmoplantar keratoderma (EPPK) is typically caused by variations in KRT9 or KRT1 genes.
Chunli Lin, Huaqing Chen, Shuqin Lai, Shan Huang, Zimeng Guo, Lang Xie, Wei Zheng, Jingfa Lu, Zhaolin Zeng, Chunlei Wan, Longnian Li   +10 more
doaj   +2 more sources

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis [PDF]

Pediatric Investigation, 2023
Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.
Zhou Yang, Zhe Xu, Rui He, Xin Xiang, Bin Zhang, Lin Ma   +5 more
doaj   +2 more sources

Epidermolytic hyperkeratosis: clinical update

Clinical, Cosmetic and Investigational Dermatology, 2019
Denice Peter Rout,* Anushka Nair,* Anand Gupta, Piyush KumarAmity Institute of Biotechnology, Amity University Mumbai, Navi Mumbai, India*These authors contributed equally to this workAbstract: Epidermolytic hyperkeratosis (EHK), earlier termed as ...
Peter Rout D, Nair A, Gupta A, Kumar P
doaj   +3 more sources

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report [PDF]

Frontiers in Immunology
Ichthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling.
Wenjie Cheng, Wenjie Cheng, Wenjie Cheng, Chaolan Pan, Chaolan Pan, Chaolan Pan, Zhe Sun, Zhe Sun, Zhe Sun, Peiyi Sun, Peiyi Sun, Peiyi Sun, Jiawen Li, Jiawen Li, Jiawen Li, Zhirong Yao, Zhirong Yao, Zhirong Yao, Xiaoxiao Wang, Xiaoxiao Wang, Xiaoxiao Wang, Jia Zhang, Jia Zhang, Jia Zhang   +23 more
doaj   +2 more sources

Congenital Segmental Erosions and Hyperkeratotic Plaques in a Male Infant: A Quiz [PDF]

Acta Dermato-Venereologica
Kaan Yilmaz, Christina Evers, Oliver Brandau, Marthe-Lisa Schaarschmidt, Cyrill Géraud   +4 more
doaj   +2 more sources

Epidermolytic Hyperkeratosis -NPS 2 Type

Indian Journal of Dermatology, 2004
A case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis or EHK) with some unusual features is described. It was diagnosed in a 6 month old girl with no family history of either EHK or focal lesions suggestive of mosaicism ...
Das Jayanta Kumar
doaj   +1 more source