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  • Title: Cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) in a man with a diagnosis of X-linked reticulate pigmentary disorder (PDR).
    Author: Fraile G, Norman F, Reguero ME, Defargues V, Redondo C.
    Journal: Scand J Gastroenterol; 2008; 43(4):506-10. PubMed ID: 18365917.
    Abstract:
    Cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) is a rare syndrome characterized by episodes of intestinal suboclusion caused by intestinal stenosis with superficial ulceration. Histological findings in the cases described in the literature are similar, even though they are not specific. The cause of the syndrome is as yet unknown. We report on the case of a 25-year-old male with a protein losing enteropathy (PLE) in the context of the CMUSE syndrome. At a later date the patient was also diagnosed with an X-linked recessive reticulate pigmentary disorder (PDR). The clinical features and tests which led to the diagnosis are described. The reported cases of CMUSE and of the gastrointestinal symptoms in the three families with PDR are reviewed in order to search for an association between these two entities. To date, there is no evidence to ascertain whether these two rare syndromes observed in the same patient are related or coincidental.
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