A 56-year-old Caucasian man complained of recurrent bilateral lower extremity cellulitis and ulcerations, requiring hospitalization and parenteral antibiotic administration. History included factor V Leiden mutation with recurrent lower extremity deep venous thromboses and recurrent MRSA urinary tract infections. He had undergone numerous abdominal procedures, with recurrent enterocutaneous fistulae and wall abscesses. Abdominal exam revealed wall ulceration with serosanguineous drainage and surrounding erythema. His lower extremities presented ochre dermatitis, bilateral +/4 edema below the knee; there were 2 ulcerations on the anterior portion of his left leg, measuring 1 × 1 cm and 2 × 3 cm (Figure ). A lower extremity ultrasound showed a left-sided nonocclusive chronic thrombus in the femoral and popliteal veins. Total levels of immunoglobulins were normal (except for a small decrease in IgG3), as were C2 and C4 (Table ). Anticardiolipin antibody was negative. The patient had a low level of MBL (<50 ng/ml), genotyping showing a LYPB/LYPB polymorphism for MBL and a wild-type MASP-2 (Table ). The patient's abdominal wall culture grew cephalosporin-sensitive Staphylococcus aureus; cultures from his lower extremity ulcerations were positive for Pseudomonas aeruginosa. The patient responded to antimicrobials, compression stockings and topical Tacrolimus©.
A 48-year-old woman presented with painful orogenital ulcerations. She had a family history of documented Behcet's disease (BD) in her father and brother and she was concerned she may have the disease. She was uncertain as to whether she was of Melungeon descent (peoples of Tri-racial descent who have lived in the South-Eastern United States: these include European, African/Middle Eastern/Turkish and Native American). Pertinent other history included severe polyarthralgia (hands, wrists, arms, knees, and ankles) over the past 8 years.\nA pathergy test was negative. Immunoglobulin levels, ESR, and CRP were unremarkable. Assays for hepatitis viruses, HIV, rheumatoid factor, Herpes simplex, and lupus anticoagulant were negative (Table ). Ophthalmologic evaluation did not demonstrate the characteristic uveitis. She was treated with a pulse of oral glucocorticoids and placed on long term hydroxychloroquin. After 5 months, oral and genital ulcerations had resolved. Due to the clinical response to therapy but insufficient diagnostic criteria, she was diagnosed with a forme fruste of BD. Further work-up established an MBL level < 50 ng/ml and a deficient MBL functional pathway (Table ). Genotyping revealed an LXPA/LYPB haplotype for MBL and A/A for MASP-2 (Table ).