49-year-old woman with complaints of a blistering skin eruption and hyperpigmentation for the past 6 years; the lesions were thick, tender, indurated, and presented with yellow-green secretion. Her past medical history included recurrent impetigo, perennial rhinitis, and ulcerative colitis. On exam, a 1-inch area of induration and erythema was observed over her chin (Figure and ); there were multiple scattered pustular lesions over the forearms, some ulcerated. Encrusted pustules were also observed over her scalp, face, back and legs. Work-up yielded a weakly positive ANA and an elevated CRP (10 mg/L) (Table ). MBL levels were low at < 50 ng/ml. Punch biopsy from her forearm (Figure ) revealed histopathology and morphology compatible with Candida sphaerica, although the possibility of Trichophyton rubrum was also raised; cultures were attempted from a specimen but no growth was observed. An aspirate of one of the pustules grew Sphingomonas paucimobilis. Terbinafine and levofloxacin were given, and her eruption resolved. Genotyping revealed LXPA/LYPB for MBL and A/G for MASP-2 (Table ). The MBL functional assay was also impaired.
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 ).