Results 61 to 70 of about 864 (160)

Neuronopathic Gaucher disease: Rare in the West, common in the East

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 917-934, September 2024.
Abstract Gaucher disease (GD) stands as one of the most prevalent lysosomal disorders, yet neuronopathic GD (nGD) is an uncommon subset characterized by a wide array of clinical manifestations that complicate diagnosis, particularly when neurological symptoms are understated.
Ozlem Goker‐Alpan, Margarita M. Ivanova   +1 more
wiley   +1 more source

Collodion baby associated with asymmetric crying facies: A case report

, 2003
Collodion baby is a distinct subset of neonatal erythroderma that can be a clinical marker for a variety of underlying abnormalities. The phenotype includes parchment-like hyperkeratosis, pseudocontractures, ectropion, eclabium, absence of eyebrows, and ...
Tamer Gunes, Selim Kurtoglu, Kurtoglu, Selim, Mustafa Akcakus, Ozturk, A, Akçakuş, Mustafa, Güneş, Tamer, Adnan Ozturk   +7 more
core   +1 more source

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

Genetic testing and new variants in diagnosis of congenital ichthyoses

Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.
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.
Milja Salo, Teija Kimpimäki, Heini Huhtala, Tanja Saarela   +3 more
wiley   +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

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

Molecular Genetics &Genomic Medicine, Volume 12, Issue 5, May 2024.
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.
Jia‐Wei Liu, Kexin Guo, Rui Zhang, Rongrong Wang, Dong‐Lai Ma, Xue Zhang   +5 more
wiley   +1 more source

Collodion baby: A case report

, 2015
Collodion baby is a genodermatosis in which neonate’s whole body is covered with thick skin termed as collodion membrane. Majority of collodion baby eventually develop autosomal recessive congenital ichthyosis.
Phuljhele, Sharja, Khandwal, Onkar, Hura, Kanwaljeet Singh   +2 more
core  

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

Collodion baby dehydration: the danger of high transepidermal water loss

, 1993
We describe transepidermal water loss (TEWL) measurements in a collodion baby suffering from severe hypernatraemic dehydration and hypothermia, who required intravenous fluid therapy in a special incubator.
Finlay, Andrew Yule, Wijeyesekera, K., Graves, Christopher, Marks, R., Alfaham, Mazin, Buyse, L.   +5 more
core   +1 more source

Bebe collodion, a propos de 4 cas et revue de la littérature : Baby collodion, about 4 cases and review of the literature

, 2022
Introduction : Le bébé collodion est une forme sévère de l’ichtyose congénitale à révélation néonatale. L’objectif de cette étude était de décrire les caractéristiques cliniques et évolutives de cette affection.Matériel et méthode : Il s’agit d’une étude
Dick Amon-Tanoh, F., Lasme-Guillao, E, Aké Assi , M.H, Eboua, T.K.F, Cardenat, M, N’Guessan-Sika, R, Ahogo, C.   +6 more
core