Results 11 to 20 of about 8,808 (124)

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

Clinical Case Reports
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.
Ahmed Alanzi, Dawood Alatefi, Malik Alkabazi, Bano Alsaleh, Amir Fouad, Islam Al Oraby   +5 more
doaj   +3 more sources

Video Demonstration of ABCA12-Related Harlequin Ichthyosis in a Low-Resource Setting: Case Report and Review of Early Management Challenges. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Elendu C, Amaechi DC, Elendu TC, Amaechi EC, Elendu ID, Okolo EH, Uyanwune MC.   +6 more
europepmc   +2 more sources

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Life, 2021
Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma.
Norbert Kiss, István Kocsis, Eva Czemmel   +2 more
exaly   +3 more sources

Comparison of artifacts between paste and collodion method of electrode application in pediatric EEG

Clinical Neurophysiology Practice, 2020
Objectives: Children pose challenges to obtain quality EEG data due to excessive artifact. Collodion is used in EEG electrodes due to its water resistance and strong adhesive qualities. This study was done to evaluate differences in artifacts between the
Yash Shāh, Kanwaljit Singh, Ivan Pavković   +2 more
exaly   +3 more sources

Collodion phenotype remains a challenge for neonatologists: A rare case of self‐healing collodion baby

Clinical Case Reports (discontinued), 2022
We report a unique case of self‐healing collodion baby (CB) that was successfully managed despite the risk of potentially serious complications. Self‐healing CB is a rare and distinct outcome of collodion phenotype occurring in approximately 10% of the ...
Nikolina Zdraveska
exaly   +2 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E, van Geel M, Verhoeven VJ, Koudijs SM, Boerman GH, Tjiam AM, van der Lugt NM, Pasmans SG.   +7 more
europepmc   +2 more sources

Lamellar Ichthyosis in a Resource-Limited Setting: A Somaliland Case Report [PDF]

International Medical Case Reports Journal
Mohamed Osman Aw Hashi,1,2 Ahmed M Derie,3 Sadam Ismail Ahmed4 1College of medicine and surgery, University of Hargeisa, Hargeisa, Somaliland; 2Department of Dermatology and Venereology, Hargeisa Group Hospital, Hargeisa, Somaliland; 3Department of ...
Aw Hashi MO, Derie AM, Ahmed SI
doaj   +2 more sources

Dupilumab for Trichothiodystrophy-Case Report and Review of the Literature. [PDF]

Clin Case Rep
ABSTRACT Trichothiodystrophy (TTD) arises from pathogenic changes in several genes, most of which participate in DNA repair or transcriptional and translational processes. Atopic dermatitis may accompany TTD in a minority of cases. Dupilumab can offer a safe and effective treatment option for severe atopic dermatitis in this population.
O'Mahony J, O'Connor C.
europepmc   +2 more sources

Atypical case of neonatal-onset Gaucher disease type 3b: A case report [PDF]

Molecular Genetics and Metabolism Reports
Neonatal-onset Gaucher disease (nGD) is considered perinatal lethal GD, a variant of GD type 2 (GD2), and is associated with collodion skin or hydrops fetalis, hepatosplenomegaly, and involvement of central nervous system (CNS). Pulmonary involvement (PI)
Takanori Onuki, Kinuko Kojima, Kentaro Sawano, Nao Shibata, Yohei Ogawa, Go Hasegawa, Aya Narita, Hiromi Nyuzuki   +7 more
doaj   +2 more sources

Type III CD38 is present in the membrane of neurosecretory vesicles and has a cytosol-facing catalytic domain in primate oxytocin neurons. [PDF]

J Neuroendocrinol
Abstract CD38, an ADP‐ribosyl cyclase that generates cyclic ADP‐ribose (cADPR), is essential for Ca2+‐dependent oxytocin release. However, its subcellular localisation and membrane topology within oxytocin neurones have remained unclear. We investigated the distribution and orientation of CD38 in oxytocin‐producing neurones of Japanese macaques (Macaca
Miyamoto T, Matsushima A, Otubo A, Song C, Murata K, Oti T, Sakamoto H.   +6 more
europepmc   +2 more sources