Harlequin ichthyosis (HI) is a rare congenital skin disorder caused by irregular epidermal differentiation. Syndactyly in HI is associated with thick hyperkeratotic skin flexion and angulation deformity of the hand and fingers resulting in limited function of the upper extremity. Traditional syndactyly release is limited as full-thickness skin grafts typically used in reconstruction are composed of diseased skin and require donor sites in a patient predisposed for adverse wound healing. This case report is a follow-up to a previous viewpoint written about digital escharotomies in a newborn with HI and outlines a second and fourth webspace syndactyly release with a dermal substitute. Despite early evidence of adequate release and improved hand function, recurrence of syndactyly was observed within 4 months of surgical release. Our experience described within this case report may suggest the limitations and possible alternatives of surgical release of syndactyly in the HI population.
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http://dx.doi.org/10.1097/GOX.0000000000004594 | DOI Listing |
J Obstet Gynaecol India
December 2024
Department of Obstetrics and Gynaecology, Sardar Patel Medical College, Bikaner, Rajasthan 334001 India.
Front Pediatr
December 2024
Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China.
Background: Autosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While all ARCI genes are linked to LI and CIE, HI is specifically associated with severe mutations in the gene.
View Article and Find Full Text PDFCureus
November 2024
Ophthalmology, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Patna, IND.
Collodion baby is a rare congenital condition marked by a parchment-like membrane covering the body, often leading to complications such as bilateral ectropion. This condition poses risks of exposure keratopathy and other ocular issues. We present a case series of five infants with congenital bilateral ectropion associated with collodion babies, all born prematurely.
View Article and Find Full Text PDFClin Exp Dermatol
November 2024
Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan.
ABCA12 is crucial for skin barrier function and traditionally linked to severe congenital ichthyosis, such as harlequin ichthyosis. However, its genotype-phenotype relationship may be more nuanced. Using whole-exome sequencing and Sanger sequencing, we identified four cases of mild ichthyosis with biallelic ABCA12 pathogenic variants.
View Article and Find Full Text PDFJAMA Dermatol
December 2024
Department of Dermatology, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
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