Case Report: Stevens–Johnson syndrome/toxic epidermal necrolysis overlap with ocular and urogenital involvement in an extremely preterm infant following broad-spectrum antibiotic exposure [PDF]
Frontiers in MedicineStevens–Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a rare, life-threatening epidermolytic reaction characterized by widespread keratinocyte necrosis, epidermal detachment, and mucosal involvement.
Adnan Hadid +13 more
doaj +2 more sources
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases [PDF]
Acta Dermato-VenereologicaInherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang +7 more
doaj +2 more sources
Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report [PDF]
Clinical Case ReportsWe 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 +4 more
doaj +2 more sources
Annular epidermolytic ichthyosis: a case report and literature review, [PDF]
Anais Brasileiros de Dermatologia, 2020 Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita +3 more
doaj +2 more sources
A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation
Pifu-xingbing zhenliaoxue zazhi, 2022 A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation is reported. A 32-year-old Chinese man presented with a 30-year history of palmoplantar hyperkeratotic plaques.
Wencong XU +5 more
doaj +1 more source
Superficial epidermolytic ichthyosis in a neonate
Indian Journal of Paediatric Dermatology, 2023 Superficial epidermolytic ichthyosis (SEI) is a rare blistering disorder, manifesting as blisters and hyperkeratosis. It has characteristic histopathological features, hyperkeratosis, vacuolar degeneration of the granular layer, and subcorneal split ...
Pandharinath Keshav Khade +2 more
doaj +1 more source
Congenital Segmental Erosions and Hyperkeratotic Plaques in a Male Infant: A Quiz [PDF]
Acta Dermato-VenereologicaKaan Yilmaz +4 more
doaj +2 more sources
PLoS ONE, 2022 A 3-months old Chinese shar-pei puppy with ichthyosis was investigated. The dog showed generalized scaling, alopecia and footpad lesions. Histopathological examinations demonstrated a non-epidermolytic hyperkeratosis.
Verena K Affolter +4 more
doaj +1 more source
Systematised Epidermal Nevus - A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 A 20-year-old female presented with raised skin lesions all over the body since birth. Clinical examination revealed multiple pigmented macules and hyperkeratotic papules seen along Blaschko's lines over the face, neck, trunk and both lower limbs ...
MANOHARAN DHANARAJ, MANOHARAN RAMALINGAM
doaj +1 more source
Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma
Pifu-xingbing zhenliaoxue zazhi, 2023 Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO +3 more
doaj +1 more source