Chronic granulomatous disease: two members of a single family with different dermatologic manifestations

Case 1: A 33-year-old man with a 14-year history of localized skin disease on the face and scalp was evaluated at the department of dermatology. The physical examination revealed plaques with papules, pustules, and a golden yellow crusting on the forehead, cheeks, upper lip, and chin (Figure 1). The scalp presented fine, whitish scales. At the beginning of his disease, the patient presented large red and painful purulent boils. The 14-year clinical course of these lesions was characterized by partial remissions and recurrences, but he did not specify any treatment related to improvement. The clinical diagnosis given for the scalp lesions was seborrheic dermatitis. For the facial lesions, many differential diagnoses were considered, among them: seborrheic dermatitis, acneiform dermatitis, impetigo, folliculitis, seborrheic pemphigus, and demodicidosis. The histopathologic study of a biopsy taken from the cheek (Figure 2) showed superficial spongiform dermatitis with neutrophils and folliculitis that are compatible with the diagnosis of seborrheic dermatitis. Both Gram and periodic acid-Schiff stains were negative. Follow-up of the patient was not possible since he did not come back. The disease in this patient initially manifested at age five by the presence of recurrent ganglionic abscesses. At age 15, he presented a pulmonary abscess of a left lobule that was surgically removed; at this point the diagnosis of chronic granulomatous disease was established. At age 28, an exploratory laparotomy was performed due to peritonitis and multiple hepatic abscesses. At that time, he was treated with antibiotics (mainly trimethoprim-sulfamethoxazole) and interferon-g. The patient had two brothers who died due to complications of chronic granulomatous disease. In addition, both his mother and sister presented a history of discoid lupus-like lesions. Case 2: Coincidentally, his 27-year-old sister was seen in our department of dermatology 5 years before, presenting infiltrated and erythematous plaques with fine scales (Figure 3) on the right side of the nose and the left annular finger. No other cutaneous or mucous lesions were seen. She referred onset in childhood with similar lesions on sun-exposed areas that disappeared without scarring. A biopsy was performed and the results were compatible with the diagnosis of discoid lupus erythematosus (Figure 4). Direct immunofluorescence was not available. At that time, she did not mention the family history of chronic granulomatous disease. Clinical follow-up was not possible, but his brother referred that she afforded complete remission only with sun protection.