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Case Reports
. 2023 Nov 28;2023(11):omad124.
doi: 10.1093/omcr/omad124. eCollection 2023 Nov.

Epidermolysis bullosa in a mother-infant dyad

R R Prashanth  1 , Pramod Dhanraj Kamble  2 , Abhilasha Kumari  1 , Anitha Haribalakrishna  1 , Sunanda Arun Mahajan  2
Affiliations
Case Reports

Epidermolysis bullosa in a mother-infant dyad

R R Prashanth et al. Oxf Med Case Reports. .

Abstract

Epidermolysis Bullosa is an inherited mechanobullous disorder which presents in the neonatal period as blistering skin lesions. In this case report, we describe an uncommon presentation of Epidermolysis Bullosa Simplex in a term infant, weighing 2640 g, born to a mother who was also diagnosed with Epidermolysis Bullosa Pruriginosa during the course of the evaluation of her newborn. The clinical situation presented us with a unique dilemma with regard to routine newborn care practices including handling, skin and diaper care. Though the presentation was typically characteristic of EB, we illustrate with images the diagnostic modalities and challenges faced in the hospital while caring for this fragile skin in a low and middle-income country's neonatal intensive care unit. This is the first reported case of a neonate with Epidermolysis Bullosa Simplex born to a mother with Epidermolysis Bullosa Pruriginosa.

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Conflict of interest statement

None.

Figures

Figure 1
Figure 1
Large, ruptured bulla with clean erosion over the medial aspect of bilateral feet and medial malleolar region in the neonate.
Figure 2
Figure 2
Multiple pruritic lichenified papules and plaques with milia over knees and shins (mainly over trauma-prone sites) and albopapuloid papules over the lumbosacral region with anonychia of finger and toes in the mother.
Figure 3
Figure 3
Hematoxylin and Eosin image of the neonate showing subepidermal split (arrow) with pauci immune infiltrate (arrow) in the upper dermis (Inset).
Figure 4
Figure 4
Hematoxylin and Eosin image of the mother’s biopsy from vesicle showing subepidermal split with thickened dermal vessels and perivascular lymphohistiocytic infiltrate (arrow).
Figure 5
Figure 5
Hematoxylin and Eosin image of the mother’s biopsy from the hypertrophic plaque showing dermal fibrosis (left arrow) and milia (middle arrow).
Figure 6
Figure 6
Immunofluorescence image of the neonate showing the subepidermal split (arrow) with staining of Type VII, Type IV, and Laminin 332 seen on the dermal side of the split suggestive of EBS.
Figure 7
Figure 7
Immunofluorescence image of the mother showing the subepidermal split (arrow) with staining of Type VII, Type IV, and Laminin 332 seen on the epidermal side of the split and reduced intensity of K14 staining as compared to normal skin suggestive of a milder variant of Dystrophic EB.
Figure 8
Figure 8
Triple layered dressing over bilateral feet of the neonate.
Figure 9
Figure 9
Healing of lesions of the neonate without scarring.
See this image and copyright information in PMC

References

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