title: 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.
authors.affiliation: Department of Dermatology, Semmelweis University, Budapest, Hungary. csimar@bor.sote.hu
authors.forename: M
authors.initials: M
authors.lastname: Csikós
authors.forename: Z
authors.initials: Z
authors.lastname: Orosz
authors.forename: G
authors.initials: G
authors.lastname: Bottlik
authors.forename: H
authors.initials: H
authors.lastname: Szöcs
authors.forename: Z
authors.initials: Z
authors.lastname: Szalai
authors.forename: Z
authors.initials: Z
authors.lastname: Rozgonyi
authors.forename: J
authors.initials: J
authors.lastname: Hársing
authors.forename: E
authors.initials: E
authors.lastname: Török
authors.forename: L
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: A
authors.initials: A
authors.lastname: Horváth
authors.forename: S
authors.initials: S
authors.lastname: Kárpáti
mesh_terms: D000328:Adult; D000686:Amyloidosis / Q000150:complications*; D002294:Carcinoma, Squamous Cell / Q000150:complications* / Q000473:pathology; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000150:complications*; D008171:Lung Diseases / Q000150:complications*; D012878:Skin Neoplasms / Q000150:complications* / Q000473:pathology