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 +4 more
doaj +1 more source
A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]
J Dtsch Dermatol GesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E +7 more
europepmc +2 more sources
A Rare Case Report of a Collodion Baby with Severe Hypernatremia [PDF]
Iranian Journal of Neonatology, 2017 Background: Collodion baby is a rare condition (i.e., 1:300000 birth), which is referred to a neonate covered with a tight and shiny membrane desquamating within two weeks.
Ahmad Farhat +3 more
doaj +1 more source
Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma [PDF]
, 2022 The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life-threatening underlying disease ...
Bodemer, C. +23 more
core +9 more sources
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
core +1 more source
I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
core +3 more sources
International Journal of Contemporary Pediatrics, 2023 Collodion baby is a rare congenital disorder that resembles the Harlequin foetus but is milder in severity. Although it has been reported that harlequin foetuses are associated with various abnormalities like kidney abnormalities, polydactyly, thymic ...
Manoj Kumar, Rajan Kumar, Abhishek Kumar
semanticscholar +1 more source
First Case Report of a Collodion Baby from Azad Jammu and Kashmir, Pakistan
BioScientific Review, 2023 Collodion baby is a rare genetically determined congenital condition that follows an autosomal recessive pattern of inheritance resulting in a parchment-like tight, shiny skin present over the skin of the newborn.
Saiqa Khushal +5 more
semanticscholar +1 more source
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan [PDF]
, 2019 Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified,
Ahmad, Jamil +16 more
core +4 more sources
Schuppende Hautveränderungen im Säuglingsalter [PDF]
, 2023 An infant was admitted to the neonatal intensive care unit due to a noticeable desquamation of the skin in the groin, extremities and axillary regions. In addition to the desquamation the baby had a collodion membrane.
Authried, Georg +4 more
core +1 more source