Results 31 to 40 of about 4,560 (196)

Collodion Baby: A Clinical Enigma [PDF]

Indian Journal of Neonatal Medicine and Research, 2019
Collodion baby is a term used for neonates in whom the body surface is covered by thick skin sheets, appearing like a translucent, tight parchment paper.
Sonam Singh, Sumita Mehta, Tarun K Ravi, Anshuja Singla, Ankita Mann   +4 more
doaj   +1 more source

Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal disorder often mistaken for collodion baby. We report a 37‐week neonate with severe ectropion, eclabium, and thick fissured scales who died on Day 2 despite optimal care. This case highlights the diagnostic challenges, intensive management needs, and poor prognosis of Harlequin ...
Alanzi A, Alatefi D, Alkabazi M, Alsaleh B, Fouad A, Al Oraby I.   +5 more
europepmc   +2 more sources

Lamellar Icthyosis – A case Report [PDF]

Journal of Clinical and Diagnostic Research, 2014
Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems.
Pranitha V, Thimma Reddy B.V, Daneswari V, Sudhanwa N Deshmukh   +3 more
doaj   +1 more source

Congenital bilateral ectropion in lamellar ichthyosis

Oman Journal of Ophthalmology, 2011
Chandana Chakraborti, Partha Tripathi, Gautam Bandopadhyay, Dayal Bandhu Mazumder   +3 more
doaj   +3 more sources

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

Dermatologica Sinica, 2018
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy   +4 more
doaj   +1 more source

Familial Lamellar Ichthyosis in 6 Years Old and 2 Years Old Children: A Rare Case Report

, 2023
Background: Lamellar ichthyosis (LI) is a rare non-syndromic congenital ichthyosis and is autosomal recessive. LI patients are generally born with abnormalities of keratinization, then develop into lamellar scales and persist into adulthood.
Suci Widhiati, Ellistasari, Endra Yustin, Ervina Rosmarwati   +2 more
core   +1 more source

Dermatodendrosophy and dermatokarposophy – A bird's eye view

Clinical Dermatology Review, 2022
Dermatodendrosophy is defined to describe the relation between dermatology and the trees whereas Dermatokarposophy describes the connection between dermatology and fruits.
Anil Harishchandra Patki, Paras Choudhary   +1 more
doaj   +1 more source

Lamellar Ichthyosis with Bilateral Ectropion

, 2016
Lamellar ichthyosis is a rare congenital disorder with ocular manifestation resulting from the cicatrization of anterior lamella of eyelids. Early diagnosis and management of ectropion can prevent the most severe complications such as severe dry eyes ...
Sharma, Reena, Jain, Vaibhav Kumar, Jain, Gunjan, Sharma, Indra Kumar, Verma, Ganesh Kumar   +4 more
core   +1 more source

ABHD5 frameshift deletion in Golden Retrievers with ichthyosis. [PDF]

, 2021
Ichthyoses are hereditary skin disorders characterized by the formation of scales and defects in the outermost layer of the epidermis. In dogs, at least six different breed-specific ichthyoses including a relatively common PNPLA1-related autosomal ...
Hopke, Kaitlin, Mauldin, Elizabeth A, Wiener, Dominique J, Jagannathan, Vidhya, Kiener, Sarah, Leeb, Tosso, Casal, Margret L, Diesel, Alison B   +7 more
core   +1 more source

Acid ceramidase overactivity drives ceramide loss, leading to atopic dry skin and Th2‐skewed immune polarization

The Journal of Pathology, Volume 269, Issue 2, Page 232-247, June 2026.
Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada, Miho Sashikawa‐Kimura, Yusuke Ohno, Md Razib Hossain, Xiaonan Xie, Kazuhisa Iwabuchi, Mayumi Komine, Mamitaro Ohtsuki, Genji Imokawa   +8 more
wiley   +1 more source