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Case Reports
. 2023 Nov;35(Suppl 2):S234-S238.
doi: 10.5021/ad.21.134.

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

Elif Keleş Gülnerman  1 , Nurcan Hanedan  2 , Merve Akillioglu  3 , Gülsüm Kayhan  4 , Esra Adişen  5 , Özlem Erdem  6 , İbrahim Murat Hirfanoğlu  2 , Ebru Ergenekon  2 , Eray Esra Önal  2 , Canan Türkyilmaz  2 , Esin Koç  2
Affiliations
Case Reports

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

Elif Keleş Gülnerman et al. Ann Dermatol. 2023 Nov.

Abstract

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 icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.

Keywords: Ichthyosis; Infant; Transglutaminase 1; newborn.

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Conflict of interest statement

The authors have nothing to disclose.

Figures

Fig. 1
Fig. 1. Collodion membrane, generalized scaling, prominent eclabium, and bilateral ectropion were present on the first day of life.
Fig. 2
Fig. 2. Incisional biopsy, light microscopy finding: compact mild hyperkeratosis and parakeratosis in the epidermis and a major loss in the granular layer, intercellular edema in the epidermis (H&E, ×400).
Fig. 3
Fig. 3. After 7 days of acitretin treatment, the findings of generalized scaling, ectropion, and eclabium were resolved.
See this image and copyright information in PMC

References

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