Neonatal epidermolysis bullosa with dystrophic nails
- 1Indraprastha Apollo Hospital, Pediatrics, Sarita Vihar, New Delhi, Delhi, 110079, India
- 2Indaprastha Apollo Hospital, Sarita Vihar, Delhi, 110079, India
- Ketan Kulkarni,
- Published 14 December 2009
Epidermolysis bullosa (EB) is a rare blistering disease that may manifest in the neonatal period. Diagnosis is based on clinical symptomatology, histopathology, electron microscopy and genetic studies.1 However, in a resource limited setting, the diagnosis is mainly clinical. Age of onset, symptomatology and prognosis of the various subtypes are varied.2 We report a case of neonatal EB presenting at 6 days of life. This boy was delivered to a 24-year-old primigravida by a full term vaginal delivery and had a history of normal prenatal care. The newborn was noted to have scattered erosions and flaccid vesicles on the lower back, buttocks, scalp and areas of contact (fig 1a, b). The mucous membranes were spared. The nails were dystrophic (fig 2). The family history was not significant, and the rest of the systemic examination was within normal limits. A biopsy and immunofluorescent markers were consistent with junctional EB, non-Herlitz subtype. The clinical course of the neonate was stormy and he developed secondary staphylococcal sepsis which was managed with appropriate antibiotics and supportive care. Wound care was provided with non-adherent dressing (white petrolatum impregnated gauzes).
Junctional EB, non-Herlitz subtype, carries a good prognosis. Its inheritance is autosomal recessive.1 Advice about of skin care, such as gentle handling, reducing injury, friction, avoidance of tight clothing, and prolonged exposure to warm weather, need to be provided and reinforced to the parents. Use of a very mild soap and white petrolatum application to lubricate the skin is recommended.
A multidisciplinary approach, with input from the neonatologists, paediatricians, dermatologists, plastic surgeons, dieticians, physiotherapists, and occupational therapists, is necessary to optimise outcome. However, outcome remains guarded in view of the susceptibility to recurrent infections. Prenatal diagnosis by antenatal ultrasonography and genetic studies can be offered in select cases.
Competing interests: none.
Patient consent: Patient/guardian consent was obtained for publication