Diffuse atrophic papules and plaques, intermittent abdominal pain, paresthesias, and cardiac abnormalities in a 55-year-old woman

Oliver, Brittany; Boehm, Manfred; Rosing, Douglas R.; Shapiro, Lee; Dempsey, Daniel T.; Merkel, Peter A.; Lee, Chyi‐Chia Richard; Cowen, Edward W.

doi:10.1016/j.jaad.2016.09.015

Cited by 12 publications

(7 citation statements)

References 18 publications

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“…Laparoscopy offers a less-invasive means of identifying these highly specific lesions [ 4 ]. While the intestinal serosa is classically involved, non-intestinal serosal lesions may also occur, as has been seen on the liver capsule and peritoneum [ 22 ].…”

Section: Resultsmentioning

confidence: 99%

Gastrointestinal Kohlmeier–Degos disease: a narrative review

Sattler

Magro

Shapiro

et al. 2022

Orphanet J Rare Dis

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Introduction Kohlmeier-Degos (K-D) disease is a rare obliterative vasculopathy that can present as a benign cutaneous form or with potentially malignant systemic involvement. The gastrointestinal tract is most frequently involved in systemic disease and mortality is often related to bowel perforations. Herein, we provide information to providers and patients regarding gastrointestinal K-D symptomology, pathology, treatment, and diagnosis, with a focus on the importance of timely diagnostic laparoscopy. We present three new cases of gastrointestinal K-D to highlight varying disease presentations and outcomes. Body Based on reviewed reports, perforation is preceded by at least one gastrointestinal symptom: abdominal pain/cramping, anorexia/weight loss, vomiting, diarrhea, nausea, gastrointestinal bleeding, obstipation, constipation, and abdominal fullness. Perforation most commonly occurs in the small intestine and often results in sepsis and death. Although underutilized, laparoscopy is the most sensitive and specific diagnostic technique, demonstrating serosal porcelain plaques similar to those on the skin and characteristic for K–D. The combination of eculizumab and treprostinil is presently the most effective treatment option for gastrointestinal K–D. The pathology of gastrointestinal K-D is characterized by an obliterative intimal arteriopathy eventuating in occlusive acellular deposits of mucin and collagen along with an extravascular pauci-cellular sclerosing process resembling scleroderma confined to the subserosal fat. C5b-9 and interferon-alpha are both expressed in all caliber of vessels in the affected intestine. While C5b-9 blockade does not prevent the intimal expansion, enhanced type I interferon signaling is likely a key determinant to intimal expansion by, causing an influx of monocytes which transdifferentiate into procollagen-producing myofibroblast-like cells. Conclusion Prompt laparoscopic evaluation is necessary in any K–D patient with an abdominal symptom to facilitate diagnosis and treatment initiation, as well as to hopefully decrease mortality. Those with gastrointestinal K–D should start on eculizumab as soon as possible, as onset of action is immediate.

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Section: Resultsmentioning

confidence: 99%

Gastrointestinal Kohlmeier–Degos disease: a narrative review

Sattler

Magro

Shapiro

et al. 2022

Orphanet J Rare Dis

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“…Platelet anti‐aggregants or anticoagulants are often used in patients with both cutaneous and systemic variants and are considered first‐line therapy in newly diagnosed patients 1 . Within the adult population various therapies have been trialed, including but not limited to, aspirin, heparin, enoxaparin, both oral and topical corticosteroids, methotrexate, and clopidogrel; however, none of these therapies have been universally effective 1,17,18 . There have been cases of systemic MAP remission induced by IVIG and combination therapy of cyclophosphamide with corticosteroids 7 .…”

Section: Discussionmentioning

confidence: 99%

A fatal case of malignant atrophic papulosis in a pediatric patient

Schaefer

Muskardin

Tillema

et al. 2021

Pediatric Dermatology

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A 17‐year‐old Caucasian boy presented with progressive left‐sided weakness, transient slurred speech, and skin lesions characterized by 3‐5 mm, pink, asymptomatic papules with white atrophic centers on his central abdomen, back, and lower extremities. Skin biopsy confirmed the diagnosis of malignant atrophic papulosis, a rare vasculopathy that leads to the occlusion of small‐ and medium‐sized arteries. He was treated with cyclophosphamide, eculizumab, treprostinil, pentoxifylline, heparin, and acetylsalicylic acid. Despite the aggressive immunosuppression, humanized monoclonal antibodies, and antiplatelet therapy, he died two months after presentation. We report this case to highlight diagnostic features, as well as to highlight the importance of early diagnosis and treatment.

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“…The tissue biopsy specimen showed no more MAC deposits but persistently high type I interferon signature and inflammation. Oliver et al 11 examined a 55-year-old woman with MAP who presented with abdominal symptoms for 5 years. After eculizumab treatment for 6 months, the patient experienced only 1 minor episode of abdominal pain.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Malignant Atrophic Papulosis

Huang¹,

Wang²,

Lee

et al. 2018

Pediatrics

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Malignant atrophic papulosis (MAP), also known as Degos disease, is an extremely rare disease that is characterized by its unique skin presentation (namely, central, porcelain-white atrophic lesions with a telangiectatic rim). MAP has the following 2 variants: cutaneous MAP is manifested in the skin alone, whereas systemic MAP affects the gastrointestinal tract, central nervous system, lungs, and other internal organs. Some patients who presented with only cutaneous symptoms at first may develop systemic symptoms several years later. Although the exact pathologic mechanisms are unclear, Magro et al suggested in a recent study that MAP is a vascular injury syndrome that involves complement component C5b-9 complex deposition and high expression of interferon-α. The prognosis of systemic MAP is poor and typically fatal within a few years. Nonetheless, because the C5b-9 complex is detected in MAP, some researchers have suggested combined treatment with eculizumab (a humanized monoclonal antibody against C5) and treprostinil (a prostacyclin analog). Here, we report on a girl with systemic MAP who had severe central nervous system involvement and responded to eculizumab.

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Diffuse atrophic papules and plaques, intermittent abdominal pain, paresthesias, and cardiac abnormalities in a 55-year-old woman

Cited by 12 publications

References 18 publications

Gastrointestinal Kohlmeier–Degos disease: a narrative review

Gastrointestinal Kohlmeier–Degos disease: a narrative review

A fatal case of malignant atrophic papulosis in a pediatric patient

Pediatric Malignant Atrophic Papulosis

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