Results 21 to 30 of about 737 (139)
Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1. [PDF]
Int J Dev NeurosciA de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Vaia Y +11 more
europepmc +2 more sources
Lamellar Ichthyosis in a Resource-Limited Setting: A Somaliland Case Report [PDF]
International Medical Case Reports JournalMohamed 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
Surgical management of the highly edematous conjunctiva due to ectropion in a 3-year-old collodion baby [PDF]
Chinese Medical Journal, 2021 Di Chen, Xiao-Wei Liu, Li-Shao Guo
doaj +2 more sources
Collodion Baby: A Rare Clinical Entity [PDF]
Journal of Clinical and Diagnostic Research, 2017 Bikash Chandra Satapathy +1 more
doaj +2 more sources
Congenital Ichthyosis - Collodion Baby Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2016 Priyanka Srivastava +4 more
doaj +2 more sources
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 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
Journal of Lipid Research, 2022 Self-healing collodion baby (SHCB), also called “self-improving collodion baby”, is a rare mild variant of autosomal recessive congenital ichthyosis and is defined as a collodion baby who shows the nearly complete resolution of scaling within the first 3
Takuya Takeichi +14 more
doaj +1 more source
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis
Frontiers in Genetics, 2021 Neonatal collodion baby or ichthyosis can pose a diagnostic challenge, and in many cases, only additional organ involvement or the course of the disease will help differentiate between non-syndromic and syndromic forms.
Katalin Komlosi +13 more
doaj +1 more source
Lamellar congenital ichthyosis in practice of dermatologists
Vestnik Dermatologii i Venerologii, 2017 The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and ...
S. V. Koshkin +4 more
doaj +1 more source