Results 1 to 10 of about 184 (104)

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, Ruhong Cheng, Jianying Liang, Zhirong Yao, Ming Li   +4 more
doaj   +3 more sources

Sporadic case of ichthyosis bullosa of siemens in an infant: A rare case

Indian Journal of Dermatology, 2021
Atul Vijay, Akshy Kumar, Shivani Saini, Shail Agarwal   +3 more
doaj   +4 more sources

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma. [PDF]

J Eur Acad Dermatol Venereol, 2022
Abstract The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life‐threatening underlying disease.
Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA.   +23 more
europepmc   +2 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

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. [PDF]

Pediatr Dermatol, 2021
Abstract Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long‐term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be considered. Systemic retinoids have known side effects involving bone and eye. Additionally,
Zaenglein AL, Levy ML, Stefanko NS, Benjamin LT, Bruckner AL, Choate K, Craiglow BG, DiGiovanna JJ, Eichenfield LF, Elias P, Fleckman P, Lawley LP, Lewis RA, Lucky AW, Mathes EF, Milstone LM, Paller AS, Patel SS, Siegel DH, Teng J, Tanumihardjo SA, Thaxton L, Williams ML, PeDRA Use of Retinoids in Ichthyosis Work Group.   +23 more
europepmc   +2 more sources

Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa. [PDF]

Case Rep Pediatr
Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress‐induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the COL7A1 gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging.
Yacobucci L, Edwards C, Oosbree AV, Newman R.   +3 more
europepmc   +2 more sources

Genetic testing and new variants in diagnosis of congenital ichthyoses. [PDF]

Mol Genet Genomic Med
The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.
Salo M, Kimpimäki T, Huhtala H, Saarela T.   +3 more
europepmc   +2 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   +2 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., Akiyama, M., Sakai, K., Yanagi, T., McMillan, James R., Higashi, A., Shimizu, H.   +6 more
  +15 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, Sunanda Arun Mahajan, Ketki Shekhar Bhoite   +2 more
doaj   +1 more source