We report the successful treatment of the syndrome of pigmentary dilution and immunodeficiency (Griscelli's syndrome) with allogeneic bone marrow transplantation. Griscelli's syndrome includes silvery hair, recurrent infections, hepatosplenomegaly, progressive neurologic deterioration, and lymphohistiocytosis and is uniformly fatal. We present a family in which four of seven children of consanguinous parents were affected. The affected children were all born with silvery hair. Microscopic examination of the hair showed large clumps of pigment in the hair shaft. Skin biopsy revealed an accumulation of melanosomes in the melanocytes. Three of the affected children were deceased before 20 months of age. Pathology of liver and lung in two of the siblings showed an infiltration of lymphocytes and histiocytes. Immunologic studies in one of these cases were notable for a decreased number of T cells and poor T-cell mitogen stimulation with concanavalin A (Con A) and pokeweed mitogen (PWM). Recently, a fourth sibling with silvery gray hair was referred to us at 3 months of age for evaluation. T-cell function studies were normal and she appeared in overall good health. Because of the expected fatal outcome, allogeneic bone marrow transplantation was performed at 4 months of age. Two years later the patient remains in excellent health. This suggests that cells of hematopoietic origin are responsible for the fatal outcome in Griscelli's syndrome and that bone marrow transplantation early in the course of the disease is an important modality for treatment of this syndrome.
This is a preview of subscription content, log in to check access.
Buy single article
Instant access to the full article PDF.
Price includes VAT for USA
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
This is the net price. Taxes to be calculated in checkout.
Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M: A syndrome associating partial albinism and immunodeficiency. Am J Med 65:691–702, 1978
Griscelli C, Prunieras M: Pigment dilution and immunodeficiency: A new syndrome. Int J Dermatol 17(10):788–791, 1978
Siccardi A, Bianchi E, Calligari A, Clivio A, Fortunato A, Magrini U, Sacchi F: A new familial defect in neutrophil bactericidal activity. Helv Paediat Acta 33:401–412, 1978
Brambilla E, Dechelette E, Stoebner P: Partial albinism and immunodeficiency: Ultrastructural study of haemophagocytosis and bone marrow erythroblasts in one case. Pathol Res Pract 167:151–165, 1980
Weinberg A, Rogers L: Hepatosplenomegaly, pancytopenia, and fever. J Pediat 82(5):879–884, 1973
Fischer A, Griscelli C, Friedrich W, Kubanek B, Levinsky R, Morgan G, Vossen J, Wagemaker G, Landais P: Bonemarrow transplantation for immunodeficiencies and osteopetrosis: European survey 1968–1985. Lancet 2:1080–1083, 1986
Fischer A, Cerf-Bensussan N, Blanche S, Le Deist F, Bremard-Oury C, Leverger G, Schaison G, Durandy A, Griscelli C: Allogenic bone marrow transplantation for erythrophagocytic lymphohistiocytosis. J Pediat 108(2):267–270, 1986
Virelizier J, Lagrue A, Durandy A, Arenzana F, Oury C, Griscelli C, Reinert P: Reversal of natural killer defect in a patient with Chediak-Higashi syndrome after bone marrow transplantation. N Engl J Med 306:1055–1056, 1982
Parkman R, Rappeport J, Hellman S, Lipton J, Smith B, Geha R, Nathan D: Busulfan and total body irradiation as antihematopoietic stem cell agents in the preparation of patients with congenital bone marrow disorders for allogeneic bone marrow transplantation. Blood 64:852–857, 1984
Alvarado C, Buchanan G, Kim T, Zaatari G, Sartain P, Ragab A: Use of VP-16-213 in the treatment of familial erythrophagocytic lymphohistiocytosis. Cancer 57:1097–1100, 1986
Zelickson A, Windhorst D, White J: The Chediak Higashi syndrome: Formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol 49:575–581, 1967
Elejalde B, Holguin J, Valencia A, Gilbert E, Molina J, Marin G, Arango L: Mutations affecting pigmentation in man. I. Neuroectodermal melanolysosomal disease. Am J Med Genet 3:65–80, 1979
Quevedo WC, Fitzpatrick TB, Szabo G, Jimbow K: Biology of melanocytes.In Dermatology in General Medicine, TB Fitzpatrick, AZ Eisen, K Wolff, IM Freedberg, KF Austen (eds). New York, McGraw-Hill, 1987, pp 235–251
Rinchik E, Russell L, Copeland N, Jenkins N: Molecular genetic analysis of the dilute-short ear (D-SE) region of the mouse. Genetics 112:321–342, 1986
Roder J, Haliotis, T, Klein M, Korec S, Jett J, Ortaldo J, Heberman R, Katz P, Fauci A: A new immunodeficiency disorder in humans involving NK cells. Nature 284:553–555, 1980
Arico M, Nespoli L, Maccario R, Montagna D, Bonetti F, Caselli D, Burgio G: Natural cytotoxicity impairment in familial haemophagocytic lymphochistiocytosis. Arch Dis Child 63:292–296, 1988
About this article
Cite this article
Schneider, L.C., Berman, R.S., Shea, C.R. et al. Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome). J Clin Immunol 10, 146–153 (1990). https://doi.org/10.1007/BF00917914
- Pigmentary dilution
- partial albinism
- Griscelli's syndrome
- bone marrow transplantation