A 61-year-old man presented with recurrent folliculitis-like eruptions of the skin. His history was significant for a prior history of infection of the cheek with methicillin-resistant Staphylococcus aureus (MRSA) treated with minocycline. Six years earlier, he had suffered infection of a pacemaker site with MRSA, which had spread to his upper extremities, but was ultimately controlled with antibiotics. He denied intravenous drug use. Physical examination revealed a 1-cm indurated nodule over his left cheek, a 5 × 3 cm hyperpigmented patch over his left ankle, and scattered areas of erythema over his anterior chest wall and dorsum of his legs. MBL level was < 50 ng/ml, while all classes of immunoglobulins were within normal range (Table ). MBL genotyping revealed the LYPB/HYPD haplotypes. MASP-2 genotype was the wild type (A/A). MBL functional pathway test was impaired (Table ). A skin biopsy of the folliculitis-like rash (Figure ) was performed, revealing Grover's disease (transient acantholytic dermatosis). Topical therapy was instituted with triamcinolone.
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 ).