Neonatal Med.  2022 Nov;29(4):130-134. 10.5385/nm.2022.29.4.130.

A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn

• Hong G
• Choi M

• KMID: 2536658
• DOI: http://doi.org/10.5385/nm.2022.29.4.130

Abstract

Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and mixed type. These four subtypes are further classified according to the location of gene mutation and genetic patterns. Epidermolysis bullosa simplex (EBS) is characterized by separation in the epidermal or subepidermal layer. And it is mostly caused by mutation of keratin 5 (KRT5) and KRT14 genes. Recently, genetic test has become increasingly important for diagnosis, confirming subtypes and genetic counseling. And there are moderate correlation exists between the EBS phenotype and genotype. Here, we report a case of 2-day-old boy with EBS Dowling-Meara type (EBS-DM) diagnosed by mutation analysis in KRT14.

Keyword

Dowling-Meara type; Epidermolysis bullosa simplex; Infant; KRT14 mutation; Newborn

Figure

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  Figure 1. Multiple blisters and erosions are on the whole body, especially intertriginous skin area in hospital day 2. Foam-type wound covering material was applied to the back and right forearm.

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  Figure 2. (A) Large size of blister and erosions are on right foot. (B) Nail dystrophy of the left finger is observed (especially on thumb).

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  Figure 3. Finding (red arrow) of punch biopsy on lesion of the right foot shows subepidermal blister with focal wholly eroded epidermis and stromal inflammatory cells infiltration (H&E, ×100).

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  Figure 4. Blisters on both inguinal, both foot are improved in hospital day 46.

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