P#58  Griscelli syndrome

Alfredo Rossi1, Paola Bonaccorsi1, Giuseppe Pistola2, Carmen Cantisani2, Anna Maria Carrozzo2, Sergio Cimenti1 and Stefano Calvieri1. 1Dept of Dermatology and Plastic Surgery, University "La Sapienza", Rome, Italy; 2Dept of Dermatology, University "Tor Vergata", Rome, Italy

Griscelli syndrome is also called partial albinism with immunodeficiency and is a rare disease characterized by partial albinism with humoral and cellular immunodeficiency like hemophagocytosis, pancytopenia, elevated triglicerides, low fibrinogen, low proteins. Neurologic defects are also present. There is an accumulation of mature melanosomes in the cytoplasm of the melanocytes with altered transfer to the keratinocytes. The hair has a typical bright-gold and ultrastructurally we can see the pathological accumulation of melanosomes in the melanocytes cytoplasm but only few melanosomes in the keratinocytes. Under light microscopy the typical clusters of melanosomes in the hair cortex are observed.