Suspected epidermolysis bullosa simplex in a 5-week-old Nigerian: a case report.
BACKGROUND
Epidermolysis bullosa is a rare non scaring autosomal dominant disorder characterized by recurrent blistering of the skin and mucous membrane. The skin is fragile and minor rubbing may cause blistering. It's epidemiology in our environment is unknown probably because of paucity of information on the clinical presentation and management with resultant mortality within the first few months of life.


METHODS
A case report of a 5-week-old female who presented with generalized blistering and denudation of the skin first noticed on the left foot at birth and a review of the literature on the subject using Medline and online search was used. She was treated at various traditional medicine homes and clinics before referral to the teaching hospital. She was managed initially for bullous pemphigus with antibiotics for proven septicaemia, and the wound infection ignorantly managed with daily sofratulle dressing alternating with closed dressings before a definitive clinical diagnosis of was made.


RESULTS
The patient was referred late to the tertiary centre. She was initially treated for bullous pemphigus and sepsis with antibiotics and wound dressings with poor response before the diagnosis of epidermlysis bullosa was made. The patient died from severe foot bleeding before blood could be transfused.


CONCLUSIONS
Delay in making the right diagnosis hence the appropriate treatment even in a tertiary health is being highlighted.
Otaigbe
B E
BE
Department of Pediatrics, University of Port Harcourt Teaching Hospital, Port Harcourt, Nigeria. barbiejoe64@yahoo.com
Datubo-Brown
B
B
D003951:Diagnostic Errors; D016110:Epidermolysis Bullosa Simplex / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D009549:Nigeria