Cutaneous Sarcoid-Like Granulomas in a Child Known with Nijmegen Breakage Syndrome
A 3-year-old girl known with NBS presented with one year history of squamous lesions on the face and the upper and lower limbs. Without any improvement in the past year, there was an increase in the number of lesions in the last months.\nThe patient has been known with NBS since she was 2 years old (diagnosis made in another service). The suspicion of NBS was raised immediately after birth based on her facial dysmorphology and clinical features, but the genetic confirmation appeared later after ().\nOn the physical examination the patient presented microcephaly with forehead and prominent midface, bilateral epichanthus, large ears and sparse hair (). We also examined the skin lesions, which were in a large number disseminated over the face and extremities (). The dermatological consult revealed numerous squamous plaques localized on the face and extremities, in different evolution states. They were erythematous at the beginning, in evolution crusts appeared on the lesion's surface. The dermatologist suggested the biopsy of the lesions. The histopathological examination revealed sarcoid-like granulomas (, ). An immunological study was made: the immunoglobulins A, M were normal for the age, with a hypogammaglobulinemia.