Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome)

Abstract

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.

References

  1. 1.

    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

  2. 2.

    Griscelli C, Prunieras M: Pigment dilution and immunodeficiency: A new syndrome. Int J Dermatol 17(10):788–791, 1978

  3. 3.

    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

  4. 4.

    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

  5. 5.

    Weinberg A, Rogers L: Hepatosplenomegaly, pancytopenia, and fever. J Pediat 82(5):879–884, 1973

  6. 6.

    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

  7. 7.

    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

  8. 8.

    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

  9. 9.

    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

  10. 10.

    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

  11. 11.

    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

  12. 12.

    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

  13. 13.

    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

  14. 14.

    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

  15. 15.

    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

  16. 16.

    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

Download references

Author information

Rights and permissions

Reprints and Permissions

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

Download citation

Key words

  • Pigmentary dilution
  • partial albinism
  • lymphohistiocytosis
  • Griscelli's syndrome
  • bone marrow transplantation