Cutaneous granulomas in Griscelli type 2 syndrome

Griscelli syndrome (GS) is a rare autosomal recessive disease that may compromise the skin, nervous, immune, and lymphoreticular systems as well as solid internal organs. Mutations in genes responsible for cellular membrane trafficking control have been identified. This may explain the dysfunction of melanocytes, neurons, and immune cells. Correlation between genetic defects and clinical manifestations have been reported: neurologic defects are frequent and severe in type 1 GS, milder in type 2, and absent in type 3. Immunological abnormalities such as hypogammaglobulinemia, natural killer cell dysfunction, and infiltration of lymphoid organs are observed only in types 2 and 3. Type 2 GS has a poor prognosis, with rapid development of hemophagocytic syndrome and death in the absence of bone marrow transplantation. Dermatological signs are usually limited to characteristic silvery scalp hair and eyebrows and skin hypopigmentation. Few reports of other cutaneous manifestations in GS have been published. In this case, we describe a child with type 2 GS associated with granulomatous lesions.