Results 1 to 10 of about 373 (138)

Sporadic Case of Ichthyosis Bullosa of Siemens in an Infant: A Rare Case.

Indian J Dermatol, 2021
Vijay A, Kumar A, Saini S, Agarwal S.
europepmc   +6 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   +11 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   +6 more sources

The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence. [PDF]

Mol Genet Genomic Med, 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).
Li Y, Cheng R, Liang J, Yao Z, Li M.
europepmc   +3 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 ...
Meral J. Arin, Mary A. Longley, Ervin H. Epstein, Glynis Scott, Lowell A. Goldsmith, Joseph A. Rothnagel, Dennis R. Roop   +6 more
openalex   +5 more sources

Bilateral Systematised Epidermolytic Epidermal Nevus: A case report. [PDF]

Sultan Qaboos Univ Med J, 2021
Verrucous epidermal nevi (VEN) are benign congenital hamartomas consisting of keratinocytes. Histological examination mostly exhibits hyperkeratosis, acanthosis, papillomatosis and, rarely, the features of epidermolytic hyperkeratosis (EHK).
Kerawala SR, Rizvi NU, Tabassum S.
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

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
SV Rakhesh, S. Rajiv
openalex   +3 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

A New Keratin 2e Mutation in Ichthyosis Bullosa of Siemens

Journal of Investigative Dermatology, 1997
Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin condition with features similar to epidermolytic hyperkeratosis (EH). Clinical symptoms are characterized by mild hyperkeratosis with an acral distribution. Histology shows epidermolysis of upper spinous and granular cells, whereas ultrastructurally, tonofilaments form perinuclear ...
David O. Jones, C.E. Watts, Caroline Mills, Graham R. Sharpe, R. Marks, Paul E. Bowden   +5 more
openalex   +4 more sources