Epidermolysis bullosa and inherited blistering disorders — clinical case

Case

A 15-year-old boy with severe generalised recessive dystrophic EB, confirmed on immunofluorescence mapping and a biallelic COL7A1 mutation in early childhood, is reviewed in the EB clinic. He has long-standing mitten deformity of both hands from recurrent blistering and scarring, a gastrostomy for nutritional support because of oesophageal stricturing, and chronic iron-deficiency anaemia. He now reports a wound on the right lower leg that has enlarged and become nodular over six months despite his usual meticulous atraumatic dressings, together with worsening dysphagia and fatigue. [11]

Findings

On examination there is a three-centimetre ulcerated nodular wound on the right lower leg within an area of chronic scar, with a rolled border and contact bleeding. Both hands show established pseudosyndactyly with flexion contractures. He is pale, with growth below the third centile. The nodular, enlarging, non-healing character of the wound within a chronic scar field is the single finding that demands immediate action, because in recessive dystrophic EB such a wound is squamous cell carcinoma until biopsy proves otherwise. [10]

Investigations

The immediate investigation is a tissue biopsy of the nodular wound for histopathology, because clinical suspicion alone governs the decision in this disease. Full blood count and iron studies confirm the degree of chronic anaemia, and a barium swallow or endoscopy assesses the dysphagia for oesophageal stricturing. Staging imaging of the leg is arranged once the biopsy confirms squamous cell carcinoma, because the tumours of recessive dystrophic EB metastasise early and staging informs the extent of excision. [6]

Management

The leg wound is biopsied and, on confirmation of squamous cell carcinoma, managed with wide local excision by a surgeon experienced in EB, because the tumours are radioresistant and surgery is the mainstay. The hand deformities and oesophageal stricture are addressed by the established hand-surgery and endoscopic dilation pathways within his multidisciplinary team, and the chronic anaemia is treated with intravenous iron through his gastrostomy. Throughout, every interaction avoids adhesive tape, secures lines with soft silicone, and protects his fragile skin, because iatrogenic injury from routine handling remains the commonest everyday harm in EB care. [11]

Course

The squamous cell carcinoma is excised widely and the wound heals with atraumatic dressings, but the surveillance is lifelong and intensified. He enters a programme of full-skin examination every three to six months by a clinician experienced in EB, with a low threshold to biopsy any further non-healing lesion, because recurrence and new primaries are common and early excision is the only effective defence. The case illustrates that in recessive dystrophic EB the chronic wound is both a wound and a cancer field, and that management rests on lifelong surveillance built around a multidisciplinary team and a structured transition into adult EB services. [10]