Background/Purpose: Kohlmeier-Degos disease is a rare obliterative vasculopathy that can present in a benign cutaneous form or with potentially malignant systemic involvement. While the benign form is restricted to cutaneous lesions, the malignant form involves visceral organs and may occur with or, rarely, without cutaneous lesions. In systemic cases, central nervous system, renal, respiratory, cardiac, and gastrointestinal manifestations have all been noted, in addition to other organs. Of these, the gastrointestinal tract is most commonly involved and mortality of systemic Kohlmeier-Degos is often related to bowel perforations. Given this, further characterization of this disease’s gastrointestinal manifestations is essential to increasing awareness and recognition of this life-threatening entity.

Methods: Published case reports of gastrointestinal Kohlmeier-Degos disease were compiled by searching EBSCOhost database. Case reports included are all those in which patients were diagnosed with Kohlmeier-Degos disease and reported at least one gastrointestinal symptom. Demographics, presentations, imaging, complications, and treatments were evaluated for approximately 40 cases. Novel pathophysiology of the gastrointestinal aspect of this disease was also elucidated.

Results: The average age of gastrointestinal Kohlmeier-Degos occurring in adults was 43, with a slight predilection for females. Infantile disease is present but rare. Bowel perforations occurred in roughly 40% of cases. Most perforations occurred in the small intestine, specifically the jejunum. Repeat perforations are possible, although not well documented due to the high risk of fatality. Various gastrointestinal visualization methods and treatments were employed across all cases. Pathology of the disease in the gastrointestinal tract is characterized as a purely arteriopathic and extravascular sclerosing process confined to the subserosal fat. Enhanced interferon alpha expression is likely involved in the obliterative arteriopathic process. Under the influence of a type I interferon microenvironment, there is an initial influx of monocytes into the intima. They undergo transdifferentiation into procollagen-producing cells with myofibroblastic properties, producing excessive collagen and hyaluronic acid that eventuates into the acellular plug that defines the final obliterative arterial lesion. A similar procollagen phenotype reminiscent of the scleroderma phenotype is encountered in the fibroblasts within the zone of serosal fibrosis; the fibroblasts express smooth muscle actin and show a noticeable absence of CD34 staining.

Conclusion: Gastrointestinal Kohlmeier-Degos remains a rare and elusive entity, but patterns can be seen in existing published cases. All gastrointestinal cases were preceded by characteristic skin lesions and the presence or histology of these cutaneous lesions often aided diagnosis. All cases of bowel perforation were preceded by at least one gastrointestinal symptom. Although underutilized, laparoscopy proves to be the most specific visualization and diagnostic technique. Presently, the combination of eculizumab and treprostinil is the most effective treatment option.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/review-of-gastrointestinal-manifestations-of-kohlmeier-degos-disease/