Leukocyte Adhesion Defect Type 1 Presenting with Recurrent Pyoderma Gangrenosum
Five-year-old female child, second product of non-consanguineous marriage, resident of New Delhi, presented with recurrent skin lesions, often occurring in areas of previous trauma (pathergy) since the age of 6 months. The lesions exhibited stereotypical phases: Initial small erythematous, tender papules developed into pustules, which coalesced and formed deep ulcerations with necrotic borders and overhanging edges, typical of PG. Wound healing was delayed, and the scars were unusual with the healed skin being thin, soft, and lax & atrophic. The episodic ulcerations were often accompanied by peripheral neutrophilic leukocytosis (granulocytosis) and elevated acute-phase reactants. Repeated evaluations for inflammatory bowel disease, hematologic, and rheumatic diseases were negative. There was no history of delayed umbilical cord separation, omphalitis, recurrent chest infections, diarrhea, oral thrush, or periodontitis. On examination, at admission, she had stable vitals. There was mild pallor. Multiple tender ulcerative lesions with typically undermined and violaceous or bluish ulcer borders with peri-lesional erythema and edema were present over lower limbs [] and chest. Insignificant cervical lymphadenopathy was present. Her weight and height were appropriate for age and sex. Systemic examination was unremarkable. On investigation, hemoglobin (Hb) was 6.0 g/dl, hematocrit (Hct) was 18.3, total leukocyte count (TLC) 43,600 per μL with polymorphs 88%, lymphocytes 5%, monocytes 7%, platelet count 1,95,000 per μL, and erythrocyte sedimentation rate (ESR) was 73 mm/1st hour by Westergren method. Peripheral smear showed normocytic normochromic red cells with neutrophilic leukocytosis and toxic granules. Bone marrow aspiration showed neutrophilic leukocytosis with cellular marrow. Blood urea creatinine and serum electrolytes were normal. Serum total protein of 6.2 gm and albumin of 3.2 gm per 100 ml of blood. Serum C3 level was 130 mg/dl (N 90-180 mg/dl). Serum CRP was negative. Anti-nuclear antibody and rheumatoid factor were negative. HIV was non-reactive. Peri-lesional pus culture sensitivity was sterile. Blood and urine cultures showed no growth. Skin biopsy was suggestive of neutrophilic dermatosis []. Immunoglobulin assay Ig A was- 65.4 mg/dL (N 30-240 mg/dl), Ig G-661.0 mg/dL (N-610-1380 mg/dL), IgM 169.8 mg/dL (N-20-134 mg/dL). Subsequently, the diagnosis of LAD1 was made by demonstrating reduced neutrophil CD11b surface expression (by flow cytometry). Neutrophil chemotaxis studies showed a decrease in directed chemotaxis.\nChild received i.v. antibiotics (ceftriaxone, amikacin, ceftazidime) along with prednisolone (2 mg/kg) for pyoderma gangrenosum. The lesions healed and child improved clinically, hence discharged after 3 weeks of admission [].\nShe was re-admitted after 2 weeks with severe pneumonia. Within 24 fours of admission, she developed pneumothorax and pneumomediastinum [] and later succumbed to her illness.