Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1955, Cronkhite and Canada described two patients presenting abnormal skin pigmentation, alopecia, onychodystrophy and gastrointestinal polyposis. In the first French case reported here, the skin pigmentation has been the object of a special electron microscope study. M. E..., 48-year old, developed, in 1968, pigmented maculae with a metallic gloss around his pelvic girdle. The melanoderma rapidly expanded, associated with fall of hair, body hairs and eyebrows. Onyxis and perionyxis of the right thumb, milium-like epidermal cysts, tumoral lesions of the keratoacanthoma type on the nose and scrotum and, chiefly, generalized cockade-like bullous erythema associated with buccal erosions soon completed the clinical picture. The bullae were subepidermal, and direct and indirect immunofluorescence tests revealed the presence of antibodies directed against the basal membrane area. A few years later, a gastrointestinal syndrome developed progressively, consisting of liquid diarrhoea (8-10 stools per day) with deterioration of the patient's general condition and loss of weight leading to cachexia and, ultimately, death. During periods when the gastrointestinal symptoms regressed the general condition improved, hair and hairs started growing again and pigmentation was less pronounced. Examinations of the digestive tract discarded a malabsorption syndrome. Endoscopy revealed the presence of false polyps with paved appearance of the colonic and rectal mucosae. The mucosa was congested, inflamed and strewn with ulcerations. Histology showed signs of acute proctitis. The abnormal skin pigmentation was the object of histological and ultrastructural analysis. Under the light microscope the epidermis was thicker than normally with increased melanin content. There was marked pigment leakage with numerous melanophages. At electron microscopy the melanocytes, more numerous, showed increased melanogenic activity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Cronkhite-Canada disease. Discussion apropos of a case and study of the pigmentation]. 391 30

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.
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PMID:Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. 1265 5