Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis

Abstract

A 25-year-old woman with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa had generalized blistering, scarring and milia since birth. In the course of the disease, acral pseudosyndactyly developed, and the patient suffered from corneal erosions, oesophageal strictures, malabsorption, recurrent severe pneumonias and nephrotic syndrome. In addition, she had severe anaemia, sideropaenia, hypocalcaemia, heavy proteinuria and hypoalbuminaemia. A rapidly growing skin squamous cell carcinoma developed on the neck that spread to axillary and cervical lymph nodes. Recurrent hypocalcaemic tetanic convulsions and dyspnoea and a pneumonia refractory to antibiotics led to the premature demise of the patient. Autopsy revealed extensive amyloidosis of the renal, hepatic and splenic tissues. AA type amyloid deposits were detected in the renal glomeruli and in the lung, explaining the patient's unusually severe pulmonary infections. In essence, the patient had severe recessive dystrophic epidermolysis bullosa, complicated by squamous cell carcinoma, recurrent pneumonias and nephrotic syndrome due to secondary amyloidosis of the kidney and lung. The possibility of secondary pulmonary amyloidosis should be considered in severe dystrophic epidermolysis bullosa patients with recurrent pulmonary infections.

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

“…These causes have included poststreptococcal glomerulonephritis, 107,108 IgA mesangial disease, 108,109 and secondary amyloidosis. [110][111][112][113][114][115][116][117][118][119] There is also one case report of a patient with pretibial dystrophic EB who had concurrent hereditary nephritis. 120 Renal abnormalities have also been reported in conjunction with the EB-PA syndrome.…”

Artificial Skin as a Valuable Adjunct to Surgical Treatment of a Large Squamous Cell Carcinoma in a Patient with Epidermolysis Bullosa

“…9,10 In some cases, it is extremely difficult to distinguish the clinical appearances of certain areas of chronic ulceration and scarring from many squamous cell carcinomas. 11 We did not find in the literature any mention of artificial skin technology applied to the treatment of large squamous cell carcinomas in patients with epidermolysis bullosa.…”

Artificial Skin as a Valuable Adjunct to Surgical Treatment of a Large Squamous Cell Carcinoma in a Patient with Epidermolysis Bullosa

“…9,10 In some cases, it is extremely difficult to distinguish the clinical appearances of certain areas of chronic ulceration and scarring from many squamous cell carcinomas. 9,10 In some cases, it is extremely difficult to distinguish the clinical appearances of certain areas of chronic ulceration and scarring from many squamous cell carcinomas.…”