Abstract:
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is characterized mainly by intra epidermal blister formation; skin separation is at the level of the sub lamina densa of the basement membrane zone with normal or decreased number of anchoring fibrils on electron microscopy. DEB commonly appearing in neonatal period, three variants of DEB exist; the two most common variants are inherited in an autosomal recessive fashion. The dominant forms are rare and less severe.
OBJECTIVE: The objective of this report is to describe the case of a young boy with a rare EB, which is autosomal recessive dystrophic EB occurring concurrently with sickle cell anaemia.
METHODS: A five year old Nigerian male being managed at the haemato-oncology clinic of the Federal Medical Centre Yola, Adamawa State was reviewed by the physicians. Relevant clinical photographs were taken after informed consent. Treatment was mainly supportive. Parents were counseled on avoidance of trauma and friction, wound management, infection prevention and control and nutritional support. Vaseline gauze was used to separate the toes to prevent pseudofusion or acquired syndactyly. Our patient's parents were also offered genetic counseling which included the risk of recurrence in subsequent children.
RESULTS: A 5-year-old Nigerian male, product of non-consanguineous marriage presented at birth and followed up in the clinic with recurrent blistering of the skin, mucus membranes of the mouth and oesophagus. At 9 months of age the patient was also diagnosed of sickle cell anaemia. The areas of the skin commonly and severely affected included the hands, legs, toes and toe nails, knees, elbows., tongue and the buccal mucosa, None of his siblings had similar skin lesions neither any of the parents. Physical examination, histological report and haemoglobin electrophoresis were in keeping with DEB and Sickle cell anaemia respectively.
CONCLUSION: Autosomal recessive DEB though very rare, does occur in our environment and can even co-exist with sickle cell anaemia another condition that can lead to skin ulcers. DEB should be suspected in any child with blistering skins and mucus membrane or skins that are fragile to trivial trauma or even spontaneous eruptions. BJM 2020; 2(1): 27-30.
