[PMC free article] [PubMed] [Google Scholar] 18

[PMC free article] [PubMed] [Google Scholar] 18. Abdominal computed tomography (CT) revealed evidence of small bowel inflammation. The pain subsided with bowel rest. She continued to experience occasional, mild abdominal pain for the next two years, during which time skin lesions improved in appearance but by no means resolved entirely. At age 54, the patients abdominal symptoms worsened with near-weekly severe bouts of pain for 2 C 3 months. Abdominal CT showed changes suggestive of inflammation in the duodenum and proximal jejunum with surrounding mesenteric excess fat stranding. Exploratory laparoscopy revealed common lesions on the surface of the liver, peritoneum, and large and small bowel; these were comparable in appearance to the lesions on her skin. This episodic abdominal pain was accompanied by the development of 10 C 20 painful new skin lesions and intermittent right-sided paresthesias of the arm and lower leg. Head and neck MRI were go through as normal, failing to reveal any neurological defects. Electrocardiogram revealed asymptomatic atrial fibrillation; echocardiogram showed moderate tricuspid regurgitation deemed to be clinically insignificant. Already on daily 81 mg aspirin, the patient was additionally prescribed twice daily apixaban 5 mg and metoprolol 25 mg to reduce the risk of thromboembolic complications. Family history was significant for cerebrovascular accidents in both parents. There was no family history of skin or gastrointestinal disease. Approximately 5 years after disease onset, the patient was seen in the NIH dermatology medical center for further assessment. Physical Examination Skin examination at the NIH showed numerous porcelain white, irregularly shaped, pinpoint to 6 C 8 mm atrophic papules on the body 6-Thio-dG with sparing of the face and neck. A distinct rim of intense erythema with telangiectasias IgG2b Isotype Control antibody (FITC) characterized all lesions. 6-Thio-dG Smaller lesions were present around the thenar and hypothenar aspect of the palms. In several areas, including the stomach, back, and proximal thighs, adjacent lesions created larger atrophic plaques (Fig. 1). A dark red, irregular 4 mm papule with slight overlying level was noted around the left medial knee. Open in a separate window Open in a separate window Physique 1 Malignant atrophic papulosis. (A) Porcelain white, irregularly shaped atrophic papules and plaques with erythematous, 6-Thio-dG telangiectatic rim around the stomach. (B) Close-up view of atrophic papules. Dermatopathology Histopathologic examination of a skin punch biopsy specimen obtained from the left medial knee revealed focal lichenoid dermatitis with hyperkeratosis, thickened basement membrane, superficial and deep perivascular chronic inflammation, hemosiderin deposition, and increased dermal mucin (Fig. 2). No vascular immune complexes were seen on direct immunofluorescence. Open in a separate window Open in a separate window Physique 2 Dermatopathology of malignant atrophic papulosis. Lichenoid dermatitis with hyperkeratosis, patchy lymphocytic infiltrate, hemosiderin deposition, increased dermal mucin, and colloid body in the superficial dermis. (A) H&E, 40; (B) H&E, 400). Significant Diagnostic Studies Laboratory studies were significant for the following: white blood cell count 3.04 K/L (reference range, 3.98 C 10.04 K/L), platelet count 165 K/l (173 C 369 K/L), and complete lymphocytes 0.71 (1.18 C 3.74 K/uL). Lupus anticoagulant, anti-nuclear antibody, anti-double-stranded DNA, and anti-extractable nuclear antigen panel were normal. IgM anti-cardiolipin antibody was 14 MPL (0 C 12 MPL); C3 and C4 match 6-Thio-dG were at the lower limit of normal. Assessments for erythrocyte sedimentation rate, high-sensitivity C-reactive protein, fibrinogen, D-dimer, lactate dehydrogenase, immunoglobulins, and liver function were normal. Lipid panel was significant for total cholesterol of 229 mg/dL, LDL of 142 mg/dL, triglycerides of 212 mg/dL, and HDL of 45 mg/dL. PT, PTT, and INR were unremarkable with normal von Willebrand and Factor VIII activity. Electrocardiogram showed sinus rhythm and was within normal limits. Echocardiogram revealed a mildly dilated left atrium and the presence of atrial fibrillation. There was no evidence of pulmonary hypertension. Diagnosis Adult-onset malignant atrophic papulosis/systemic Degos disease (OMIM #602248). Follow-up After the patients exploratory laparoscopy revealed widespread visceral involvement, intravenous eculizumab 990 mg weekly for four weeks followed by 1200 mg every other week was added to her ongoing drug regimen. At the time of her evaluation at NIH, the patient had been treated with eculizumab for 6 months. She reported resolution of abdominal symptoms within 2 weeks of initiation of eculizumab with the exception of an isolated episode of pain.