866 Patient with paroxysmal nocturnal hemoglobinuria (PNH) and aplastic anemia presenting with progressive purpuric nodules

866 Patient with paroxysmal nocturnal hemoglobinuria (PNH) and aplastic anemia presenting with progressive purpuric nodules

Farid Y; Schneider S; Warren C; Vij A

Journal of Investigative Dermatology

2019

2019-05

A 44 y/o woman with PNH and aplastic anemia presented with 5 months of progressive painful purpuric nodules. Examination revealed firm, pink to purple, tender nodules in her lower and upper extremities and trunk. Biopsy revealed an edematous dermis, focal erythrocyte extravasation, and rare vessels with fibrin thrombi. The subcutis showed adipocyte necrosis with fibrin deposition, hemorrhage, and abscess formation. Special stains and cultures were negative for fungi, bacteria, and mycobacteria. D-Dimer was significantly elevated. The patient was diagnosed with thrombotic vasculopathy secondary to PNH. PNH is rare diagnosis that may result as a complication of bone marrow disease. In this disorder, the patient acquires a mutation in the phosphatidylinositol glycan A (PIGA) gene that impairs synthesis of the GPI anchor protein on erythrocytes, leukocytes, and platelets. This results in impaired attachment of CD55 and CD59 proteins, which protect cells from complement mediated lysis. Complement mediated lysis leads to platelet aggregation and venous thrombosis, in addition to Coombs negative hemolytic anemia and pancytopenia. Thromboemboli are the leading cause of death in PNH patients and can result in dermatologic findings. Biopsy in our patient showed thrombosis and skin necrosis with no indication of vasculitis. Other presentations include hemorrhagic bullae formation, purpura fulminans, and painful ecchymotic plaques. Our treatment plan was to continue prednisone, resume eculizumab and cyclosporine, and add enoxaparin (based on her mild thrombocytopenia). Eculizumab is used in the treatment of PNH as it inhibits terminal complement formation. Our patient’s condition improved within 3 months. Testing for PNH is recommended in patients with unexplained thromboses and young patients with unusual site thrombosis (intrabdominal, cerebral, and dermal veins), hemolysis, and/or any cytopenia. Discovery of underlying PNH will modify the treatment plan and improve patient prognosis.

Dermatology

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S150–S150

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0022-202X