Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes
BMC Medical Genomics, 2021 Background Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma.
Ruben D. Arias-Pérez +14 more
doaj +1 more source
Collodion baby: A case report [PDF]
, 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.
Hura, Kanwaljeet Singh +2 more
core +1 more source
Congenital Ichthyosis in a Nigerian preterm neonate: A case report and review of the literature [PDF]
, 2016 Congenital ichthyoses are relatively uncommon skin disorder s wi th worldwide occurrence. The ichthyoses are heterogenous disorders of keratinisation characterised by scaling of the skin of varying severity.
Ademolu, AO +4 more
core +2 more sources
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
MINIMIZING HEAVY METAL IN CRAFT-SETTLEMENT WASTEWATER BY SULFATE-REDUCING BACTERIA-DESULFOVIBRIO DESSULFURICANS [PDF]
, 2003 Joint Research on Environmental Science and Technology for the ...
Lai, Thuy Hien +3 more
core
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 +11 more
wiley +1 more source
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
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations [PDF]
, 2019 Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI).
Fachal Vilar, Laura +11 more
core +2 more sources
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation [PDF]
, 2020 Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22.
Esper?n Moldes, Ux?a Saraiva +10 more
core +2 more sources