Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Jul 29;13(8):e70682.
doi: 10.1002/ccr3.70682. eCollection 2025 Aug.

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report

Elke Smits  1 , Gunnar Naulaers  2   3 , Maria C Bolling  4 , Eric Legius  5 , Caroline Colmant  6
Affiliations

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report

Elke Smits et al. Clin Case Rep. .

Abstract

We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 gene (c.467G>A, p.Arg156His). A multidisciplinary approach is essential for accurate diagnosis and treatment of neonatal blistering conditions.

Keywords: blistering skin disease; congenital erythroderma; epidermolysis bullosa; epidermolytic hyperkeratosis; epidermolytic ichthyosis.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Clinical features in the affected newborn: (A) The patient's right upper limb showing diffuse erythroderma and areas of denuded skin (arrow), and (B) superficial blister formation (arrows) on the flexural surface of the lower limb.
FIGURE 2
FIGURE 2
Clinical features showing the characteristic thickening, scaling, and yellowish appearance of the skin (arrows): (A) on the hand, and (B) on the flexural surfaces of the lower extremities, most notably in the popliteal folds and around the ankles.
FIGURE 3
FIGURE 3
Immunofluorescence staining of the skin biopsy specimen obtained from a clinically affected area (lower left limb), using the LL001 antibody against KRT14, which highlights the basal keratinocytes. A distinct subcorneal cleft is observed, consistent with suprabasal epidermal fragility resulting from the disrupted keratin filament architecture in EI. Image acquired at 20× magnification.
See this image and copyright information in PMC

References

    1. Peter Rout D., Nair A., Gupta A., and Kumar P., “Epidermolytic Hyperkeratosis: Clinical Update,” Clinical, Cosmetic and Investigational Dermatology 12 (2019): 333–344. - PMC - PubMed
    1. Takeichi T. and Akiyama M., “Inherited Ichthyosis: Non‐Syndromic Forms,” Journal of Dermatology 43, no. 3 (2016): 242–251, 10.1111/1346-8138.13243. - DOI - PubMed
    1. Lacz N. L., Schwartz R. A., and Kihiczak G., “Epidermolytic Hyperkeratosis: A Keratin 1 or 10 Mutational Event,” International Journal of Dermatology 44, no. 1 (2005): 1–6. - PubMed
    1. Ross R., Digiovanna J. J., Capaldi L., Argenyi Z., Fleckman P., and Robinson‐bostom L., “Histopathologic Characterization of Epidermolytic Hyperkeratosis: A Systematic Review of Histology From the National Registry for Ichthyosis and Related Skin Disorders,” Journal of the American Academy of Dermatology 2008, no. 59 (2008): 86–90. - PMC - PubMed
    1. Avril M., “Management of Epidermolytic Ichthyosis in the Newborn,” Neonatal Network: NN 35, no. 1 (2016): 19–29. - PubMed

LinkOut - more resources