Malignant Atrophic Papulosis: A Manageable Death Sentence?

Introduction:

Malignant atrophic papulosis (MAP), or Degos disease, is a rare thrombo-obliterative vasculopathy affecting the skin, gastrointestinal tract, and central nervous system, with only a couple hundred cases ever reported in literature.

Case details:

A 38-year-old female presented with cutaneous lesions described as pink, scattered, erythematous, annular papules umbilicated with a white scar. She also complained of diffuse joint pains accompanied by morning stiffness lasting an hour. Her ANA titer was positive.

The patient was initially started on hydroxychloroquine, with improvement in her joint pains. After noticing an increasing number of new skin lesions, she presented to our clinic 2 years later. A skin biopsy was performed which showed perivascular lymphocytic infiltrate with abundant dermal mucin. Based on the clinical presentation and biopsy, a diagnosis of malignant atrophic papulosis was made. She was started on aspirin and pentoxifylline. However, she continued to develop skin lesions and migraines, for which she was prescribed nortriptyline.

Three years after her initial onset of symptoms, she presented acutely to her local hospital with two months of worsening abdominal pain. Imaging revealed pneumoperitoneum without any apparent perforation. Exploratory laparotomy, adhesiolysis, ileocolectomy, and jejunal resection were performed, and antibiotics were administered. Significant vascular disease upon resection was noted. A dusky terminal ileum and a tiny pinhole perforation in the mid-jejunum were found. She did well until postoperative day 8, after which she had a recurrence of worsening abdominal pain with a low-grade fever and leukocytosis. Imaging revealed a non-occlusive SMV thrombus without bowel compromise. Anticoagulation was started and she remained on antibiotics for possible intrabdominal infection. Given her history of MAP, she was transferred to our institution, where we decided to administer eculizumab therapy. Eculizumab 900mg was given as a first dose, which she tolerated well. Over the next few days, the patient's pain decreased, nausea and vomiting subsided, and her overall condition improved significantly. She was discharged with plans for subsequent eculizumab doses as an outpatient.

Discussion:

There are two forms of the disease described in literature: a benign cutaneous form and a life-threatening systemic form. Patients who initially present with the cutaneous form may progress over time to the systemic form, as occurred in our patient. The gastrointestinal tract is commonly involved in the latter. Antiplatelet drugs such as aspirin, clopidogrel and pentoxifylline have been known to help but failed to halt the disease progression in this case. Several studies have suggested that inhibition of C5 via eculizumab (which decreases C5b-9 membrane attack complex deposition) might be a therapeutic approach, especially in patients with systemic symptoms suffering from the effects of thrombotic occlusion. In our case, the patient noted significant improvement in her abdominal pain and overall condition after the very first infusion of eculizumab. This case emphasizes the importance of further research to manage patients with the malignant/systemic form of this disease and understand how it progresses. Further work should be done to assess the benefits of expedited use of eculizimab, and to identify the benefits of screening for systemic disease in patients with isolated cutaneous manifestations.

No relevant conflicts of interest to declare.