Skip to main content
SpringerLink
Log in

Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS)

  • Chapter
Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

Abstract

Normal pigmentation is a complex biological process and in the human, at least 127 different genes have been identified (Bennett and Lamoreaux 2003). Colour loci are the genetic loci in which mutations can affect pigmentation of the hair, skin, and/or eyes.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 269.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 349.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 499.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Bennett DC, Lamoreaux ML (2003) The colour loci of mice-a genetic century. Pigment Cell Res 16: 333–344.

    Article  PubMed  CAS  Google Scholar 

  • Lambert J, Onderwater J, Vander Haeghen Y, Vancoillie G, Koerten HK, Mommaas AM, Naeyaert JM (1998) Myosins V-colocalized with melanosomes and subcortical actin bundles not associated with stress fibers in human epidermal melanocytes. J Invest Dermatol 111: 835–840.

    Article  PubMed  CAS  Google Scholar 

References

  • Apitz-Castro R, Cruz MR, Ledezma E, Merino F, Ramirez-Duque P, Dangelmeier C, Holmsen H (1985) The storage pool deficiency in platelets from humans with the Chediak-Higashi syndrome: study of six patients. Br J Haematol 59: 471–483.

    Article  PubMed  CAS  Google Scholar 

  • Aslan Y, Erduran E, Gedik Y, Mocan H, Yildiran A (1996) The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chediak-Higashi syndrome. Acta Haematol 96: 105–107.

    Article  PubMed  CAS  Google Scholar 

  • Ballard R, Tien RD, Nohria V, Juel V (1994) The Chediak-Higashi syndrome: CT and MRI findings. Pediatr Radiol 24: 266.

    Article  PubMed  CAS  Google Scholar 

  • Barak Y, Nir E (1987) Chediak-Higashi syndrome. Am J Pediatr Hematol Oncol 9: 42–55.

    Article  PubMed  CAS  Google Scholar 

  • Barbosa MDFS, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M, Kingsmore SF (1996) Identification of the homologous beige and Chediak-Higashi syndrome. Nature 382: 262–265.

    Article  PubMed  CAS  Google Scholar 

  • Barbosa MDFS, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourq-Lagelouse R, Fisher A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF (1997) Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Molec Genet 6: 1091–1098.

    Article  PubMed  CAS  Google Scholar 

  • Barrat FJ, Auloge L, Pastural E, Lagelous RD, Vilmer E, Cant AJ, Weissenbach J, Le Paslier D, Fischer A, de Saint Basile G (1996) Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet 59: 625–632.

    PubMed  CAS  Google Scholar 

  • Beguez-Cesar A (1943) Neutropenia crónica maligna familiar con granulaciones atípicas de los leucocitos. Bol Soc Cubana Pediatr 15: 900–922

    Google Scholar 

  • Buchanan GR, Handin RI (1976) Platelet function in the Chediak-Higashi syndrome. Blood 47: 941–948.

    PubMed  CAS  Google Scholar 

  • Chediak MM (1952) Nouvelle anomalie leucocytaire de caractere constitutionnel et familial. Rev Hematol 7: 362–367.

    PubMed  CAS  Google Scholar 

  • De Freitas GR, de Oliveira CP, Reis RS, Sarmento MR, Gaspar NK, Fialho M, Praxedes H (1999) Seizures in Chediak-Higashi syndrome. Arq Neuropsiquiatr 57: 495–497.

    PubMed  Google Scholar 

  • Farah RA, Rogers R (2004) Chediak-Higashi syndrome. In: Roach ES, Allen VS (eds.) Neurocutaneous Disorders. New York: Cambridge University Press, pp. 296–300.

    Google Scholar 

  • Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, Burger J, Spritz RA (1996) Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet 59: 620–624.

    PubMed  CAS  Google Scholar 

  • Fukuda M, Morimoto T, Ishida Y, Suzuki Y, Murakami Y, Kida K, Ohnishi A (2003) Improvement of peripheral neuropathy with oral prednisone in Chediak-Higashi syndrome. Eur J Pediatr 31: 87–90.

    Google Scholar 

  • Gallin JL, Klinerman JA, Padgett GA, Wolff SM (1975) Defective mononuclear leukocyte chemotaxis in the Chediak-Higashi syndrome of humans, mink and cattle. Blood 45: 863–870.

    PubMed  CAS  Google Scholar 

  • Haddad E, Le Diest F, Blanche S, Benkerrou M, Rohrlich P, Vilmer E, Griscelli C, Fischer A (1995) Treatment of Chediak-Higashi syndrome by allogeneic bone marrow transplantation: report of 10 cases. Blood 85: 3328–3333.

    PubMed  CAS  Google Scholar 

  • Hauser RA, Friedlander J, Baker MJ, Thomas J, Zuckerman KS (2000) Adult Chediak-Higashi parkinsonian syndrome with dystonia. Mov Disord 15: 705–708.

    Article  PubMed  CAS  Google Scholar 

  • Higashi O (1954) Congenital gigantism of peroxidase granules: the first case ever reported of qualitative abnormality of peroxidase. Tokai J Exp Clin Med 59: 315–332.

    CAS  Google Scholar 

  • Jacobi C, Koerner C, Fruehauf S, Rottenburger C, Storch-Hagenlocher B, Grau AJ (2005) Presynaptic dopaminergic pathology in Chediak-Higashi syndrome with parkinsonian syndrome. Neurology 24: 1814–1815.

    Article  Google Scholar 

  • Kahraman MM, Prieur DJ (1990) Chediak-Higashi syndrome in the cat: prenatal diagnosis by evaluation of amniotic fluid cells. Am J Med Genet 36: 321–327.

    Article  PubMed  CAS  Google Scholar 

  • Karim MA, Suzuki K, Fukai K, Oh J, Nagle D, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro J, Russo C, Uyama E, Vierimaa O, Spritz RA (2002) Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 108: 16–22.

    Article  PubMed  Google Scholar 

  • Kinugawa N (1990) Epstein-Barr virus infection in Chediak-Higashi syndrome mimicking acute lymphocytic leukemia. Am J Pediatr Hematol Oncol 12: 182–186.

    Article  PubMed  CAS  Google Scholar 

  • Kjeldsen L, Calafat J, Borregaard N (1998) Giant granules of neutrophils in Chediak-Higashi syndrome are derived from azurophil granules but not from specific and gelatinase granules. J Leukoc Biol 64: 72–77.

    PubMed  CAS  Google Scholar 

  • Kunieda T, Ide H, Nakagiri M, Yoneda K, Konfortov B, Ogawa H (2000) Localization of the locus responsible for Chediak-Higashi in cattle to bovine chromosome 28. Anim Genet 31: 87–90.

    Article  PubMed  CAS  Google Scholar 

  • Lockman LA, Kennedy WR, White JG (1967) The Chediak-Higashi syndrome electrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr 70: 924–951.

    Google Scholar 

  • Malech HL, Nauseef WM (1997) Primary inherited defects in neutrophil function: etiology and treatment. Semin Hematol 34: 279–290.

    PubMed  CAS  Google Scholar 

  • Merino E, Klein GO, Henle W, Ramirez-Duque P, Forsgren M, Amesty C (1983) Elevated antibody titers to Epstein-Barr virus and low natural killer cell activity in patients with Chediak-Higashi syndrome. Clin Ummunol Immunopathol 27: 326–339.

    Article  CAS  Google Scholar 

  • Misra VP, King RH, Harding AE, Muddle JR, Thomas PK (1991) Peripheral neuropathy in the Chediak-Higashi syndrome. Acta Neuropathol (Berl) 81: 354–358.

    Article  CAS  Google Scholar 

  • Mottonen M, Lanning M, Baumann P, Saarinen-Pihkala UM (2003) Chediak-Higashi syndrome: four cases from Northern Finland. Acta Pediatr 92: 1047–1051.

    Article  CAS  Google Scholar 

  • Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ Jr, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ (1996) Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 14: 307–311.

    Article  PubMed  CAS  Google Scholar 

  • Nowicki R, Szarmach H (2006) Chediak-Higashi syndrome. E-medicine from webMD: http://emedicine. com/derm/topic704.htm

    Google Scholar 

  • Padgett GA, Leader RW, Gorham JR, O’Mary CC (1964) The familial occurrence of Chediak-Higashi syndrome in mink and cattle. Genetics 49: 505–512.

    PubMed  CAS  Google Scholar 

  • Patay Z (2005) Metabolic disorders. In: Tortori-Donati P (ed.) Pediatric Neuroradiology. Brain. Berlin: Springer, pp. 543–721.

    Google Scholar 

  • Perou CM, Moore KJ, Nagle DL, Misumi DJ, Woolf EA, McGrail SH, Holmgren L, Brody TH, Dussault BJ Jr, Monroe CA, Duyk GM, Pryor RJ, Li L, Justice MJ, Kaplan J (1996a) Identification of the murine beige gene by YAC complementation and positional cloning. Nature Genet 13: 303–308.

    Article  PubMed  CAS  Google Scholar 

  • Perou CM, Justice MJ, Pryor RJ, Kaplan J (1996b) Complementation of the beige mutation in cultured cells by episomally replicating murine yeast chromosomes. Proc Nat Acad Sci USA 93: 5905–5909.

    Article  PubMed  CAS  Google Scholar 

  • Pettit RE, Berdal KG (1984) Chediak-Higashi syndrome. Neurologic appearance. Arch Neurol 41: 1001–1002.

    PubMed  CAS  Google Scholar 

  • Roder JC, Haliotis T, Laing L, Kozbor D, Rubin P, Pross H, Boxer LA, White JG, Fauci AS, Mostowski H, Matheson DS (1982) Further studies of natural killer cell function in Chediak-Higashi patients. Immunology 46: 555–560.

    PubMed  CAS  Google Scholar 

  • Root RK, Rosenthal AS, Balestra DJ (1972) Abnormal bacterial, metabolic and lysosomal function of Chdeiak-Higashi syndrome leukocytes. J Clin Invest 51: 649–665.

    Article  PubMed  CAS  Google Scholar 

  • Rubin CM, Burke BA, McKenna RW, McClain KL, White JG, Nesbit ME Jr, Filipovich AH (1985) The accelerated phase of Chediak-Higashi syndrome. An expression of the virus associated haemophagocytic syndrome? Cancer 56: 524–530.

    Article  PubMed  CAS  Google Scholar 

  • Sayanagi K, Fujikado T, Onodera T, Tano Y (2003) Chediak-Higashi syndrome with progressive visual loss. Jpn J Ophthalmol 47: 304–306.

    Article  PubMed  Google Scholar 

  • Sheramata W, Kott SK, Cyr DP (1974) The Chediak-Higashi-Steinbrinck syndrome. Presentation of three cases with features resembling spinocerebellar degeneration. Arch Neurol 25: 289–294.

    Google Scholar 

  • Silveira-Moriyama L, Moriyama TS, Gabbi TV, Ranvaud R, Barbosa ER (2004) Chediak-Higashi syndrome with parkinsonism. Mov Disord 19: 472–475.

    Article  PubMed  Google Scholar 

  • Spritz RA (1998) Genetic defects in Chediak-Higashi syndrome and the beige mouse. J Clin Immunol 18: 97–105.

    Article  PubMed  CAS  Google Scholar 

  • Stato A (1955) Chediak and Higashi’s disease. Probable identity of “new leukocytal anomaly (Chediak) ” and “congenital gigantism of peroxidase granules (Higashi) ”. Tohoku J Exp Med 61: 201–210.

    Article  Google Scholar 

  • Steinbrinck W (1948) Uber eine neue Granulationsanomalie der Leurkocyten. Dtsch Arch Klin Med 193: 577–581.

    Google Scholar 

  • Taiby H (1996) Chediak-higashi syndrome. In: Taiby H, Lachman RS (eds.) Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasia. St-Louis: Mosby, pp. 81–82.

    Google Scholar 

  • Tardieu M, Lacroix C, Neven B, Bordigoni P, de Saint Basile G, Blanche S, Fisher A (2005) Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. Blood 106: 40–42.

    Article  PubMed  CAS  Google Scholar 

  • Uyama E, Hirano T, Yoshida A, Doi O, Maruoka S, Araki S (1991) An adult case of Chediak-Higashi syndrome with parkinsonism and marked atrophy of the central nervous system. Rinsho Shinkeigaku 31: 24–31.

    PubMed  CAS  Google Scholar 

  • Uyama E, Hirano T, Ito K, Nakashima H, Sugimoto M, Naito M, Uchino M, Ando M (1994) Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurol Scand 89: 175–183.

    Article  PubMed  CAS  Google Scholar 

  • Van Hale P (1987) Chediak-Higashi syndrome. In: Gomez MR (ed.) Neurocutaneous Diseases. A Practical Approach. Boston: Butterworths, pp. 209–213.

    Google Scholar 

  • Windhorst DB, Padgett G (1973) The Chediak-Higashi syndrome and the homologous trait in animals. J Invest Dermatol 60: 529–537.

    Article  PubMed  CAS  Google Scholar 

  • Zhao H, Boissy YL, Abdel-Malek Z, King RA, Nordlund JJ, Boissy RE (1994) On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes. Lab Invest 71: 25–34.

    PubMed  CAS  Google Scholar 

References

  • Aksu G, Kutekculer N, Genel F, Vergin C, Omowaire B (2003) Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans. Am J Med Genet A 116: 329–333.

    Article  Google Scholar 

  • Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H (2002) Evidence that Griscelli syndrome with neurological involvement is caused by mutations in Rab27A, not Myo5a. Am J Hum Genet 71: 407–414.

    Article  PubMed  CAS  Google Scholar 

  • Arico M, Zecca M, Santoro N, Caselli D, Maccario R, Danesino C, de Saint Basile G, Locatelli F (2002) Successful treatment of Griscelli syndrome with unrelated donor allogenic hematopoietic stem cell transplantation. Bone Marrow Transplant 29: 995–998.

    Article  PubMed  CAS  Google Scholar 

  • Bahadoran P, Ballotti R, Ortonne JP (2003a) hypomelanosis, immunity, central nervous system: no more “and”, not the end. Am J Med Genet 116A: 334–337.

    Article  PubMed  Google Scholar 

  • Bahadoran P, Ortonne JP, Ballotti R, de Saint-Basile G (2003b) Comment on Elejalde syndrome and relationship with Griscelli syndrome. Am J Med Genet 166A: 408–409.

    Article  Google Scholar 

  • De Saint Basile G, Fisher A (2001) The role of cytotoxicity in lymphocyte homeostasis. Curr Opin Immunol 13: 549–554.

    Article  PubMed  Google Scholar 

  • Duran-McKinster C, Rodríguez-Jurado R, Ridaura C, Orozco-Covarrubias ML, Tamayo L, Ruiz-Maldonado R (1999) Elejalde syndrome — A melanolysosomal neurocutaneous syndrome. Clinical and Morphological findings in 7 patients. Arch Dermatol 135: 182–186.

    Article  PubMed  CAS  Google Scholar 

  • Elejalde BR, Valencia A, Gilbert EF, Marin G, Molina J, Holguin J (1977) Neuro-ectodermal melanolysosomal disease: an autosomal recessive pigment mutation in man. Am J Hum Genet 29: 39A (abstract).

    Google Scholar 

  • Elejalde BR, Holguin J, Valencia A, Gilbert EF, Molina J, Marin G, Arango LA (1979) Mutations affecting pigmentation in man: I. Neuroectodermal melanosomal disease. Am J Med Genet 3: 65–80.

    Article  PubMed  CAS  Google Scholar 

  • Fukuda M (2005) Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families. J Biochem 137: 9–16.

    Article  PubMed  CAS  Google Scholar 

  • Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Pruneiras M (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65: 691–702.

    Article  PubMed  CAS  Google Scholar 

  • Huizing M, Anikster Y, Gahl WA (2002) Reply to Menasche et al. Am J Hum Genet 71: 1238.

    Article  CAS  Google Scholar 

  • Hume AN, Collinson LM, Hopkins CR, Strom M, Burral DC, Bossi G, Griffiths GM, Seabra MC (2002) The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic 3: 193–202.

    Article  PubMed  CAS  Google Scholar 

  • Ivanovich J, Mallory S, Storer T, Ciske D, Ciske D, Hing A (2001) 12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease). Am J Med Genet 98: 313–316.

    Article  PubMed  CAS  Google Scholar 

  • Libby RT, Lillo C, Kitamoto J, Williams DS, Steel KP (2004) Myosin Va is required for normal photoreceptor synaptic activity. J Cell Sci 117: 4509–4515.

    Article  PubMed  CAS  Google Scholar 

  • Mamishi S, Modarressi MH, Pourakbari B, Tamizifar B, Mahjoub F, Fahimzad A, Alyasin S, Bemanian MH, Hamidiyeh AA, Fazlollahi MR, Ashrafi MR, Isaeian A, Khotaei G, Yeganeh M, Parvaneh N (2008) Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot. J Clin Immunol Mar 19 [Epub ahead of print].

    Google Scholar 

  • Mancini AJ, Chan LS, Paller AS (1998) Partial albinism with immunodeficiency: Griscelli syndrome. Report of a case and review of the literature. J Am Acad Dermatol 38: 295–300.

    Article  PubMed  CAS  Google Scholar 

  • Manglani M, Adhvaryu K, Seth B (2004) Griscelli syndrome — a case report. Indian Pediatr 41: 734–737.

    PubMed  Google Scholar 

  • Marks MS, Seabra MC (2001) The melanosome: membrane dynamics in black and white. Nat Rev Mol Cell Biol 2: 738–748.

    Article  PubMed  CAS  Google Scholar 

  • Menasche G, Pastural E, Feldman J, Certain S, Ersoy F, Dupuis S, Wulfraat N, Bianci D, Fisher A, Le Deist F, de Saint Basile G (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 25: 173–176.

    Article  PubMed  CAS  Google Scholar 

  • Menasche G, Fisher A, de Saint Basile G (2002) Griscelli syndrome types 1 and 2. Am J Hum Genet 71: 1237–1238.

    Article  PubMed  CAS  Google Scholar 

  • Menasche G, Ho Ch, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G (2003) Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 112: 450–456.

    PubMed  CAS  Google Scholar 

  • Neeft M, Wieffer M, de Jong AS, Negroiu G, Metz CH, van Loon A, Griffith J, Krijgsveld J, Wulffraat N, Koch H, Heck AJ, Brose N, Kleijmeer M, van der Sluijs P (2005) Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells. Mol Biol Cell 16: 731–741.

    Article  PubMed  CAS  Google Scholar 

  • OMIMTM (2006) Online Mendelian Inheritance in Men. Baltimore: Johns Hopkins University Press, http:// www.ncbi.nlm.nih.gov/omim

    Google Scholar 

  • Pastural E, Barrat JF, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Sager R, Griscelli C, Fisher A, de Saint Basile G (1997) Griscelli disease maps to chromosome 15q21 and is associated to mutations in myosin Va. Nat Genet 116: 289–292.

    Article  Google Scholar 

  • Pastural E, Ersoy F, Yalamn N, Wulffrat N, Grillo E, Ozkinay F, Tezcan I, Gedikoglu G, Philippe N, Fisher A, de Saint Basile G (2000) Two genes are responsible for Griscelli syndrome at the same 15q21 locus. Genomics 63: 299–306.

    Article  PubMed  CAS  Google Scholar 

  • Provance DW, James TL, Mercer JA (2002) Melanophilinn, the product of the leaden locus is required for targeting of myosin-Va to melanosomes.Traffic 3: 124–132.

    Article  PubMed  CAS  Google Scholar 

  • Rath S, Jain V, Marwaha RK, Trehan A, Rajesh LS, Kumar V (2004) Griscelli syndrome. Indian J Pediatr 71: 173–175.

    Article  PubMed  Google Scholar 

  • Seabra MC, Mules EH, Hume AN (2002) Rab GTPase, intracellular traffic and disease. Trends Mil Med 8: 23–30.

    Article  CAS  Google Scholar 

  • Sanal O, Yel L, Kucukali T, Gilbert-Barnes E, Tardieu M, Texcan I, Ersoy F, Metin A, de Saint Basile G (2000) An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). J Neurol 247: 570–572.

    Article  PubMed  CAS  Google Scholar 

  • Scheinfeld NS (2003) Syndromic albinism: a review of genetics and phenotypes. Dermatol Online 9: 5–14.

    Google Scholar 

  • Scheinfeld NS, Johnson AM (2006) Griscelli syndrome. Emedicine from webMD. http://www.emedicine.com/ derm/topic926.htm

    Google Scholar 

  • Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA (2008) A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. Mol Genet Metab Apr 6 [Epub ahead of print].

    Google Scholar 

  • Wilson SM, Yip R, Swing DA, O’Sullivan TN, Zhang Y, Novak EK, Swank RT, Russel LB, Copeland NG, Jenkins NA (2000) A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Nat Acad Sci 97: 7933–7938.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, National Institute of Paediatrics, Insurgente Sur 3700-C, 04530, Mexico City, Mexico

    Marimar Saez-De-Ocariz MD, Luz Orozco-Covarrubias MD, Carola Duràn-McKinster MD & Ramòn Ruiz-Maldonado MD

Authors
  1. Marimar Saez-De-Ocariz MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Luz Orozco-Covarrubias MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Carola Duràn-McKinster MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ramòn Ruiz-Maldonado MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Springer-Verlag/Wien

About this chapter

Cite this chapter

Saez-De-Ocariz, M., Orozco-Covarrubias, L., Duràn-McKinster, C., Ruiz-Maldonado, R. (2008). Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_19

Download citation

  • DOI: https://doi.org/10.1007/978-3-211-69500-5_19

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-21396-4

  • Online ISBN: 978-3-211-69500-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation