Results 41 to 50 of about 737 (139)

Collodion Baby Syndrome

Indian Journal of Continuing Nursing Education, 2021
Collodion baby syndrome is a rare congenital autosomal recessive type of ichthyosis. It is a skin disorder characterised by parchment-like taut membrane which is present during birth. Collodion syndrome responds best to medical and nursing measures and may improve or resolve with the treatment of underlying condition.
Joy Priyadharishini, F. Lydia Evelyn
openaire   +1 more source

Capturing Extraction: Geology, Photography, Industry and Institutional History in the Bingley Archive

Bulletin of Latin American Research, Volume 44, Issue 3, Page 198-219, July 2025.
Godfrey Bingley was a British industrialist who took up geology, photography and travel in the 1880s. His photographs are housed at the University of Leeds, where he worked with its Chair of Geology. This article analyses the archive's projection of the imperial geological imaginary that emanated from Britain and extended to the Americas.
Rebecca Jarman
wiley   +1 more source

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 5, Page 1028-1037, May 2025.
Abstract Background Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as KRT1, KRT2 and KRT10, resulting in conditions such as epidermolytic ichthyosis (EI), autosomal‐recessive EI, superficial EI and epidermal nevus.
Leonie Frommherz, Kathrin Giehl, Josephine Hofmann, Stefanie Huebner, Kirstin Kiekbusch, Teodora Sabkova, Kira Süßmuth, Svenja Alter, Iliana Tantcheva‐Poór, Hagen Ott, Judith Fischer, Cristina Has   +11 more
wiley   +1 more source

Pattern of pathological cutaneous lesions of neonates in neonatal care unit of a peripheral tertiary institution in West Bengal

Indian Journal of Paediatric Dermatology, 2020
Background: A variety of cutaneous disorders have been found in neonatal period. These disorders may be physiological or pathological, temporary or permanent, congenital or acquired. Most of the skin lesions are benign, transient and physiological.
Chinmay Kar, Syamal Kumar Sardar
doaj   +1 more source

Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature

Medical Journal of Dr. D.Y. Patil University, 2015
Lamellar ichthyosis (LI), is a rare genodermatoses, that appears at birth and continues throughout a person's life with an autosomal recessive mode of inheritance.
Sonia P Jain
doaj   +1 more source

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
This study reports a novel case of trichothiodystrophy (TTD) linked to compound heterozygous ERCC2 variants, presenting with progressive cerebral hypomyelination. The findings highlight a rare association between ERCC2 mutations and hypomyelinating leukodystrophy, expanding the current understanding of TTD‐related neurodevelopmental disorders. ABSTRACT
Ali Reza Tavasoli, Arastoo Kaki, Maedeh Ganji, Seyyed Mohammad Kahani, Foozhan Radmehr, Pouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, Kara S. Lewis   +8 more
wiley   +1 more source

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

Frontiers in Pediatrics, 2019
Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body.
Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani   +11 more
doaj   +1 more source

Disorders of fatty acid homeostasis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders   +3 more
wiley   +1 more source

Human genetic defects of sphingolipid synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Sphingolipids are ubiquitous lipids, present in the membranes of all cell types, the stratum corneum and the circulating lipoproteins. Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids.
Patricia Dubot, Frédérique Sabourdy, Thierry Levade   +2 more
wiley   +1 more source