Griscelli syndrome is an inherited condition characterized by hypopigmented skin, silver-gray hair, neurological and immune system abnormalities. There are three types with different signs and genetic causes. Patients with type 2 are prone to recurrent infections and they develop hemophagocytic lymphohistiocytosis (HLH). The prevalence is <1 / 1 000 000. The onset of the signs of the disease is in infancy and death happens in childhood if untreated. Diagnosis can be made by clinical presentation, hair shaft study, imunological laboratory finding and genetic tests. Treatment includes bone marrow transplantation.
Al-Ahmari et al. (2010) studied 11 patients with GS who received allogeneic hematopoietic stem cell transplants (aHSCT) between 1993 and 2007. The median age at transplantation was 8.2 months. Seven patients treated with chemotherapy before transplantation because they reached accelerated phase. Two sources of grafts were available; matched-related marrows in 8 patients and mismatched unrelated cords in the remaining three. Fifteen days was the median time for engraftment in all subjects. Ten patients were alive at a median age of 4.8 years after transplantation. One patient died of septic shock 6 months after transplantation. The authors concluded that early aHSCT is feasible for treating patients with Griscelli syndrome and low level of donor cell engraftment is sufficient to prevent the recurrence of the disease.