A rare case of recessive dystrophic epidermolysis bullosa wi
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Epidermolysis bullosa (EB) encompasses a phenotypically and genetically heterogeneous group of inherited skin disorders.

A 1-day-old male infant presented with congenital absence of skin involving the left lower extremity and multiple bullae and superficial erosions concerning for EB. Cutaneous examination revealed a large circumferential well-demarcated erosion with clean borders on the left lower extremity. Additional smaller erosions, vesicles, and bullae were seen on the left leg, bilateral buttocks, right heel, and chest. There was evidence of skin fragility with the development of new lesions over the first days of life. Blistering involved the oral mucosa and the infant had notable bilateral eyelid edema. Wound care with emollients and nonadhesive protective dressings were instituted. The Haberman nipple was recommended to reduce oral trauma. Ophthalmology evaluation of periorbital swelling revealed corneal haze without concern for inflammation or infection. Genetic testing revealed heterozygous pathogenic variants in the COL7A1 gene consistent with a diagnosis of DEB, most likely RDEB.

At three weeks of life, the patient was re-admitted for dehydration in the setting of a one-week history of non-bloody non-bilious emesis concerning for PS. The physical exam was unremarkable with exception of bullae and erosions in various stages of healing. There was no palpable mass in the abdomen and the initial abdominal ultrasound was unremarkable. Repeat ultrasound 3 days later revealed interval thickening of the muscular portion of the pylorus measuring up to 5 mm (previously 2 mm) and pyloric channel length up to 25 mm (previously 12 mm), consistent with PS.

Pyloromyotomy was performed without complications. The patient had one post-op emesis after feeding but subsequently appeared to feed well with adequate oral intake. Six days later, patient was re-admitted for poor feeding secondary to pain from persistent intraoral blistering. Bottle feeding with fortified expressed maternal milk and donor milk was trialed and breastfeeding discontinued. Tylenol and oxycodone were given PRN for pain control. Feeding and weight gain improved at follow up.

This report details an unusual case of coexisting RDEB and PS. The occurrence of both may be coincidental, though given strong associations between EB and GI tract manifestations, doctors postulate that it is related. This case report highlights not only the importance of being aware of the extracutaneous manifestations in EB subtypes, but also the occurrence of coincidental or yet unassociated conditions.

Source: https://www.jaadcasereports.org/article/S2352-5126(20)30829-8/fulltext?rss=yes