A 4-month-old child had silvery gray hair, light-colored skin, recurrent chest infections, hepatosplenomegaly, and episodes of pancytopenia and hemophagocytosis in the liver, spleen, and bone marrow. Light microscopy of hair showed characteristic large aggregates of pigment granules distributed irregularly along the hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. Enlarged hyperpigmented basal melanocytes with sparsely pigmented adjacent keratinocytes were seen on the skin biopsy specimen. On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection during an accelerated phase of the disease.

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A 13-month-old female infant was referred to us in April 2005 with a progressive, wide spread eruption of 1 month's duration. She was noticed to have perioral vesicobullous lesions that soon spread to affect the extremities and trunk. The parents denied a history of fever, throat infection, vaccination, or drug intake prior to onset of her rash. She was delivered at term by normal vaginal delivery and the antenatal history of her mother was unremarkable. She was observed to have normal developmental milestones and there was no history of associated medical ailments. On examination, her height was > 25th centile and weight was at 50th centile. She was observed to have multiple tense blisters, crusted lesions, and erosions on the face, trunk (Fig. 1), and extremities ( Fig. 2) including palms and soles, urticarial papules and plaques on the back, and erosions of the oral mucosa.Skin biopsy specimen from a vesicobullous lesion showed a subepidermal blister with mixed inflammatory cell infiltrate in upper dermis containing many eosinophils. Direct immunofluorescence on the perilesional skin showed linear deposition of IgG ( Fig. 3) and C3 at the basement membrane zone. Indirect immunofluorescence on saline split skin revealed immunoreactants on the epidermal side of the split (Fig. 4). Bullous phempigoid (BP) enzyme-linked immunosorbent assay (recombinant NC16A domain of 180 kDa) was positive = 219.9 (control ≤ 20). Complete blood counts revealed mild leukocytosis = 15.2 × 10 9 /L ( n = 4-11 × 10 9 / L), mild eosinophilia = 7% ( n = 2-6%), microcytic hypochromic anemia = 9.5 g / L ( n = 11.5-17.5 g / L), and mildly elevated erythrocyte sedimentation rate = 28 mm / h. Iron profile showed a low serum iron = 1.2 µ mol/L ( n = 6 -27.0) and decreased serum iron saturation = 2% ( n = 20 -40). Ultrasound of the abdomen and pelvis showed grade II hydronephrosis that improved after a prolonged course of antibiotics (cephalosporins). A follow-up technetium-99 m dimercaptosuccinic acid (Tc-99 m DMSA) renal cortical scintigraphy was normal. Various other investigations including serum biochemistry, liver and renal function tests, urinalysis, Hb electrophoresis, chest X-ray, glucose 6-phosphate dehydrogenase, serum immunoglobulins, and hepatitis screening were within the normal limits. She was given intravenous immunoglobulins (IVIG) 400 mg / kg /day for 5 consecutive days along with prednisolone (1 mg / kg /day). Within 5 days of treatment she stopped getting new lesions and showed resolution of most of the earlier skin lesions. Three weeks later while receiving prednisolone 0.75 mg / kg /day, she presented back to us with an acute relapse. The course of IVIG was repeated and dapsone (1 mg / kg /day) was added. A third course of IVIG was given a month later and the dose of prednisolone was reduced to 0.5 mg / kg /day. A week later, she was brought with persistent vomiting and high-grade fever and was hospitalized. Prednisolone and dapsone were temporarily discontinued. A few days later, she was observed to develop weakness of ri...

We report a case of linear immunoglobulin A bullous disease in a 9-year-old boy who presented with rapidly progressive severe disease and could not tolerate dapsone because of high liver enzymes within a week after a low dose of dapsone in association with an underlying fatty liver. He showed remarkable improvement with intravenous immunoglobulins used as monotherapy, with a rapid clearance and a sustained remission after stopping the treatment.