Results 51 to 60 of about 718 (144)

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis

The Turkish Journal of Pediatrics, 2017
Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characterized by abnormal epidermal keratinization.
Serap Dökmeci-Emre, Zihni Ekim Taşkıran, Ayşe Yüzbaşıoğlu, Gizem Önal, Ayşe Nurten Akarsu, Ayşen Karaduman, Meral Özgüç   +6 more
doaj   +1 more source

Study of physiological and pathological skin changes in neonates: An east indian perspective

Indian Journal of Paediatric Dermatology, 2018
Background: Numerous dermatological conditions are prevalent in neonatal period, i.e., first 28 days of life with varied presentations ranging from transient self-limiting lesions to serious dermatosis requiring clinical attention.
Binodini Behera, Yatra Kavadya, Prasenjit Mohanty, Dipanweeta Routray, Subhra Ghosh, Lina Das   +5 more
doaj   +1 more source

Netherton syndrome—A therapeutic challenge in childhood

Clinical Case Reports, Volume 12, Issue 4, April 2024.
Key Clinical Message High‐dose intravenous immunoglobulin exhibits great potential in the treatment of Netherton syndrome. Abstract Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications.
Polina Kostova, Guergana Petrova, Martin Shahid, Vera Papochieva, Dimitrinka Miteva, Ivelina Yordanova, Kossara Drenovska, Irena Bradinova, Camila K. Janniger, Robert A. Schwartz, Snejina Vassileva   +10 more
wiley   +1 more source

Ichthyosis Prematurity Syndrome

Australasian Journal of Dermatology, Volume 66, Issue 2, Page 107-109, March 2025.
Grace X. Li, Kathryn Chen, Deshan F. Sebaratnam, James P. Pham   +3 more
wiley   +1 more source

Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review

Case Reports in Dermatological Medicine, Volume 2024, Issue 1, 2024.
Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. A moderate number of cases and a high mortality rate have been recorded.
Emad Bahashwan, Jaber Alfaifi, Sahar Elmaghawri Mohamed Moursi, Youssef Elbayoumi Soliman, Hristo Dobrev   +4 more
wiley   +1 more source

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype–phenotype correlations and literature review [PDF]

Mol Genet Genomic Med
Abstract Background Ichthyosis is a common keratotic skin disease with high clinical, etiological and genetic heterogeneity. There are four types of non‐syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of recessive Mendelian disorders.
Liu J, Guo K, Zhang R, Wang R, Ma D, Zhang X.   +5 more
europepmc   +2 more sources

Selected Abstracts of the 4th International Congress of UENPS; Athens (Greece); December 11th-14th 2014

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Selected Abstracts of the 4th International Congress of UENPS • Athens (Greece) • December 11th-14th 2014 The Congress has been organized by the Union of European Neonatal and Perinatal Societies (UENPS).
--- Various Authors
doaj   +1 more source

Collodion baby: A rare case report. [PDF]

Int J Surg Case Rep, 2023
Bouab M, Wajih O, Assal A, Jalal M, Lamrissi A, Bouhya S.   +5 more
europepmc   +1 more source

A Case Report of a Collodion Baby: An Autosomal Recessive Genodermatosis. [PDF]

Cureus, 2023
Quazi S, Singh A, Khan K, Biyani U.
europepmc   +1 more source

Dupilumab improves congenital ichthyosis

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 6, Page 829-831, June 2024.
Federica Casetti, Cristina Has
wiley   +1 more source