Results 1 to 10 of about 167,440,664 (116)
The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra‐Deep Sequence [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background Superficial epidermolytic ichthyosis (SEI), known as ichthyosis bullosa of Siemens (IBS; OMIM No. 146800) before, is a type of keratinopathic ichthyosis due to the KRT2 mutations (NM_000423.3; OMIM No. 600194).
Yue Li +4 more
doaj +3 more sources
Ichthyosis Bullosa of Siemens: Report of a Sporadic Case
Journal of Dermatology, 1995 AbstractWe report a sporadic case of ichthyosis bullosa of Siemens occurring in a Korean boy. In this report, the varied findings of the clinical features in one subject over five years are presented along with an investigation of the ultrastructural alteration.
Soo-Chan Kim, Won Hur
exaly +5 more sources
Sporadic case of ichthyosis bullosa of siemens in an infant: A rare case [PDF]
Indian Journal of Dermatology, 2021 Atul Vijay +3 more
doaj +4 more sources
A Novel Mutation in the 1A Domain of Keratin 2e in Ichthyosis Bullosa of Siemens [PDF]
Journal of Investigative Dermatology, 1999 Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK). Both diseases have been linked to the type II keratin cluster on chromosome 12q. Hyperkeratosis and blister formation are relatively mild in IBS compared with EHK, and the lysis of keratinocytes is ...
Joseph A Rothnagel, Ervin H Epstein
exaly +7 more sources
Ichthyosis bullosa of Siemens--a disease involving keratin 2e. [PDF]
Journal of Investigative Dermatology, 1994 Ichthyosis bullosa of Siemens (IBS) is a congenital bullous ichthyosis without erythroderma. In contrast to bullous congenital ichthyosiform erythroderma (BCIE), there is a relatively mild involvement of the skin and epidermolytic hyperkeratosis (EHK) is restricted to the upper suprabasal layers of the epidermis.
Irwin McLean, Birgit Lane, R A Eady
exaly +4 more sources
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens [PDF]
British Journal of Dermatology, 2007 Bullous congenital ichthyosiform erythroderma (BCIE) is a severe autosomal dominant inherited skin disorder caused by keratin 1 (K1) gene (KRT1) or keratin 10 (K10) gene (KRT10) mutations. Patients with BCIE show generalized erythema and bullae from birth. Histopathologically, granular degeneration is seen in the middle to upper epidermis.
Tsubota, A. +6 more
core +19 more sources
Ichthyosis bullosa of Siemens. [PDF]
J Dermatol Case Rep, 2012 Ichthyosis bullosa of Siemens (IBS) is a rare hyperkeratotic blistering condition caused by mutations in keratin 2e gene.This is a case of a 18-year-old female with generalized blisters, erosions and thickened skin since she was 3 months old. As she aged, there was decrease in development of blisters and erosions, with accompanying increase in severity
Ang-Tiu CU, Nicolas ME.
europepmc +4 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 +5 more
doaj +2 more sources
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
Ichthyosis bullosa of Siemens: Response to topical tazarotene
Indian Journal of Dermatology, Venereology and Leprology, 2006 In 1937, Siemens described a Dutch family with superficial blistering, flexural hyperkeratosis, and characteristic mauserung appearance. Since then, less than 20 kindreds with this condition have been described in the English dermatologic literature. A 14-year-old boy presented with history of recurrent blistering and peeling of skin since the age of 1
S, Rajiv, S V, Rakhesh
openaire +2 more sources