Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity

September 2021 in “ Pediatrics in review ”

Luis Fernando Sánchez‐Espino, Claudia I. Gil-Téllez, Consuelo Cantú-Reyna, César Adrián Martínez Longoria

alopecia erythroderma keratotic plaques palmoplantar keratoderma KID syndrome keratitis-ichthyosis-deafness syndrome GJB2 gene Candida albicans Candida tropicalis Staphylococcus aureus multidrug-resistant septic shock multiorgan failure

Studysummary This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.

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research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two

66 citations , June 2018 in “British Journal of Dermatology”

These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.

research Analysis of Pediatric Dermatology Inpatient Consultations in a Pediatric Teaching Hospital

10 citations , October 2017 in “Archivos Argentinos De Pediatria”

This study described the range and treatment of skin disorders among pediatric inpatients at a teaching hospital, finding allergic skin diseases as the most common group, primarily diagnosed clinically.

research Inherited Ichthyosis: Syndromic Forms

47 citations , March 2016 in “Journal of dermatology”

This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.

research A Novel Mutation in the Connexin 26 Gene (GJB2) in a Child with Clinical and Histological Features of Keratitis-Ichthyosis-Deafness (KID) Syndrome

34 citations , September 2010 in “Clinical and Experimental Dermatology”

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.