Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby. [PDF]
JIMD RepHolocarboxylase synthetase (HLCS) is a rare autosomal recessive disorder of biotin metabolism. The mutation spectrum is known to correlate with clinical phenotypes and responsiveness to biotin therapy. Five patients diagnosed with HLCS deficiency between
Ting SL +4 more
europepmc +4 more sources
Collodion baby treated at a tertiary hospital in Tanzania: a case report. [PDF]
J Med Case Rep, 2018 BackgroundThe term “collodion baby” is used to describe a newborn covered with a translucent, parchment-like skin sheet. It is an extremely rare condition with an estimated incidence of 1 in 300,000 live births.
Godfrey EK +3 more
europepmc +4 more sources
Surgical management of the highly edematous conjunctiva due to ectropion in a 3-year-old collodion baby. [PDF]
Chin Med J (Engl), 2020 Figure 1: (A) A 3-year-old collodion baby with highly edematous upper palpebral conjunctiva due to ectropion. (B) Permanent tarsorrhaphy was performed to correct the ectropion.
Chen D, Liu XW.
europepmc +4 more sources
Gomal Journal of Medical Sciences, 2019 This 7 years old male child is a case of collodion baby who goes to school. He is having high hypermetropia with esotropia and bilateral lower lid ectropions. He has got a younger sister of four years age with similar problem whereas another brother is quite normal.
I. Ahmad
semanticscholar +4 more sources
Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review. [PDF]
Clin Case RepHarlequin 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.
Alanzi A +5 more
europepmc +3 more sources
Collodion baby with polydactyly. [PDF]
Indian Dermatol Online J, 2015 Hassan I, Yaseen A, Ahmed K.
europepmc +5 more sources
A Case Report of a Collodion Baby: An Autosomal Recessive Genodermatosis. [PDF]
Cureus, 2023 Congenital ichthyosis refers to various underlying genodermatoses that indicate prenatal epidermal abnormalities. Collodion babies are manifestations of rare congenital ichthyosis, comprising severe clinical complications that contribute to the risk of ...
Quazi S, Singh A, Khan K, Biyani U.
europepmc +2 more sources
Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma. [PDF]
Ann Dermatol, 2023 Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as collodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit ...
Gülnerman EK +10 more
europepmc +2 more sources
Collodion baby with ectropion in a Syrian newborn: a case report study. [PDF]
Ann Med Surg (Lond), 2023 Introduction and importance: Collodion baby is a rare congenital disorder and a very intense disorder in which the baby suffers from several complications, such as trans-epidermal water loss.
Soqia J +4 more
europepmc +2 more sources