Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome

Ebner Bon Gatus MacEda, Lisa E. Kratz, Veronica Marie E. Ramos, Mary Ann R. Abacan

Research output: Contribution to journalArticlepeer-review

Abstract

We report a case of a 1-year and 2-month-old girl with clinical features consistent with congenital hemidysplasia with ichthyosis and limb defects syndrome. Sterol analysis from skin flakes revealed increased levels of a mono 4-alpha methyl sterol also seen in plasma as well as the presence of 4-alpha-carboxy-4-methyl-cholest-8(9)-en-3beta-ol and several keto-sterols, which are usually below the limit of detection. This sterol pattern is consistent with abnormal function of the 4-alpha-methylsterol-4-demethylase complex. NSDHL gene testing revealed the presence of a variant of uncertain significance, c.130G>A (p.Gly44Ser). This missense mutation currently is not included in population databases (ExAC no frequency) and has not been reported in individuals with an NSDHL-related condition. Parental studies showed that neither parent carries the NSDHL variant. On this basis, this variant has been reclassified as likely pathogenic. Symptomatic treatment with keratolytic agents, emollients and ketoconazole was initiated.

Original languageEnglish (US)
Article numbere236859
JournalBMJ case reports
Volume13
Issue number11
DOIs
StatePublished - Nov 2 2020
Externally publishedYes

Keywords

  • dermatology
  • genetics

ASJC Scopus subject areas

  • Medicine(all)

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