Collodion Baby: A Rare Clinical Entity

Satapathy, Bikash Chandra; Satapathy, Diptirekha

doi:10.7860/jcdr/2017/23064.9225

Cited by 1 publication

(2 citation statements)

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“…This is in contrast to previous reports, suggesting that TGM1 mutations are most commonly associated with ocular anomalies 25,32–36 . As shown here and elsewhere, extracutaneous manifestations and complications are common in ARCI patients 5,6,32,33,37,38 and should be addressed and followed appropriately.…”

Section: Discussioncontrasting

confidence: 96%

“…Autosomal recessive congenital ichthyosis forms a very heterogeneous group of inherited diseases 4 . Many ARCI patients are born with a collodion membrane covering their body, 5 which is subsequently shed away and gives rise to a broad spectrum of phenotypes including congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and the most severe form of ARCI, Harlequin ichthyosis 2 . Pleomorphic ichthyosis (PI) is a recently described subgroup of ARCIs including self‐healing ichthyosis (SHI) and bathing suit ichthyosis (BSI) phenotypes 6 …”

Section: Introductionmentioning

confidence: 99%

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Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Mohamad

Samuelov

Malchin

et al. 2021

Experimental Dermatology

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Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotypephenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds. Pathogenic variants were identified in most ARCI-associated genes including TGM1 (21%), CYP4F22 (18%), ALOX12B (14%), ABCA12 (10%), ALOXE3 (6%), NIPAL4 (5%), PNPLA1 (3%), LIPN (2%) and SDR9C7 (2%). In 19% of cases, no | 1291 MOHAMAD et Al.

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Section: Discussioncontrasting

confidence: 96%