Results 21 to 30 of about 864 (160)

Case report of self-improving collodion ichthyosis in the newborn [PDF]

open access: yesJournal of International Medical Research, 2023
Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth.
Suyue Zhu   +4 more
doaj   +2 more sources

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

open access: yesJ Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E   +7 more
europepmc   +2 more sources

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1. [PDF]

open access: yesInt J Dev Neurosci
A 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]

open access: yesInternational 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

Collodion Baby

open access: yesJournal of Nepal Paediatric Society, 1970
DOI = 10.3126/jnps.v28i2.1391J. Nepal Paediatr. Soc.
DR Aryal, K Subedi, SM Gurubacharya
openaire   +3 more sources

Collodion Baby: A Rare Clinical Entity [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2017
Bikash Chandra Satapathy   +1 more
doaj   +2 more sources

Congenital Ichthyosis - Collodion Baby Case Report [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2016
Priyanka Srivastava   +4 more
doaj   +2 more sources

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma. [PDF]

open access: yesAnn 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: A report of 4 cases

open access: yesNigerian Journal of Paediatrics
Introduction: The term collodion baby refers to a clinical entity noted in newborns who are enmeshed by a translucent, cornified substance like sheets of uniform texture so called (collodion membrane) which gives the whole body surface a varnished ...
Obu HA   +5 more
doaj   +1 more source

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