Results 51 to 60 of about 190,206 (158)
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
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 +8 more
wiley +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
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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 +3 more
wiley +1 more source
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 +11 more
doaj +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 +2 more
wiley +1 more source
The effect of group size on sleep in a neotropical bat, Artibeus jamaicensis
Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 341, Issue 10, Page 1097-1110, December 2024.Research Highlights We combine behavioral and physiological data to show that Jamaican fruit bats (Artibeus jamaicensis) sleeping in groups may sleep longer than individuals sleeping alone, and that behavior can be used to measure some sleep metrics in wild bats.
Alexis M. Heckley +6 more
wiley +1 more source
Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Journal of Cutaneous Pathology, Volume 52, Issue 10, Page 597-600, October 2025.
Cathal O'Connor +4 more
wiley +1 more source
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 +1 more
wiley +1 more source
UNUSUAL PRESENTATION OF ICHTHYOSIS: A CASE REPORT OF COLLODION BABY
, 2023 A newborn with a unique condition, known as “collodion baby,” is born with a rare translucent skin sheet that resembles parchment. This condition is extremely uncommon, occurring in approximately 1 out of 3,00,000 live births.
KEYUR SABNIS; RAJIV GANDHI MEDICAL COLLEGE, THANE +3 more
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