Lupus like lesions in a patient with X-linked chronic granulomatous disease and recombinant X chromosome.
Lupus-like lesions in X-linked chronic granulomatous disease (X-CGD) are rare. To our knowledge, only 2 cases have previously been published. We report a 2.5-year-old boy with X-CGD whose clinical findings were consistent with cutaneous lupus erythematosus. Conventional histopathology showed epidermal atrophy, parakeratosis, follicular plugging and areas of hydropic degeneration. The most striking feature was a neutrophilic interstitial infiltrate with leukocytoclasia in the upper dermis. The X chromosome of our patient--studied with 2 endonucleases (PstI and TaqI) and 5 probes (P99.6, pERT 87.8, pERT87.15, XJ1.1 and 754)--was recombinant, but we believe that this is an incidental finding, not related to the disease. Neutrophilic infiltrate and leukocytoclasia could be characteristic histopathologic findings of lupus-like lesions in these patients.
Ortiz-Romero
P L
PL
Service of Dermatology, Hospital 12 de Octubre, Universidad Complutense, Madrid, Spain. plortiz@h120.es
Corell-Almuzara
A
A
Lopez-Estebaranz
J L
JL
Arranz
F R
FR
Ruiz-Contreras
J
J
D002675:Child, Preschool; D004817:Epidermis / Q000473:pathology; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008178:Lupus Erythematosus, Cutaneous / Q000150:complications* / Q000473:pathology; D008297:Male; D009504:Neutrophils / Q000473:pathology; D011995:Recombination, Genetic; D014960:X Chromosome