A 39-year-old woman complained of recurrent pustular eruption of her upper extremities and chronic allergic rhinitis. Immunological evaluation demonstrated the following: IgG levels were slightly decreased, but IgG subclass levels were all normal. The patient had detectable/robust responses to 6/14 pneumococcal serotypes (Table ). Further work-up yielded a low level of MBL at < 50 ng/ml (reference: >100 ng/ml), as well as an impaired MBL pathway functional test using the C4b deposition assay. Genotyping showed the HYPD/HYPD variant of MBL2 and wild-type MASP-2 genotype (A/A) (Table ).
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.