Griscelli syndrome

Journal of the American Academy of Dermatology

Volumn 55, Issue 2, 2006, Pages 337-340

  Malhotra, Amit Kumar ^a   Bhaskar, G ^b   Nanda, Mousmee ^a   Kabra, Madhulika ^b   Singh, Manoj K ^c   Ramam, M ^a  

^a Departments of Dermatology and Venereology

^b Pediatrics

^c ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

AMIKACIN; CEFOTAXIME; VANCOMYCIN;

ARTICLE; BLOOD SMEAR; BONE MARROW; CASE REPORT; CAUSE OF DEATH; CELL GRANULE; CHEST INFECTION; CLINICAL EXAMINATION; CLINICAL FEATURE; ERYTHROPHAGOCYTOSIS; GRANULOCYTE; GRISCELLI SYNDROME; HAIR COLOR; HEPATOSPLENOMEGALY; HUMAN; HYPERPIGMENTATION; INFANT; KERATINOCYTE; LABORATORY TEST; LIVER; MALE; MELANOCYTE; MICROSCOPY; PANCYTOPENIA; PRIORITY JOURNAL; RECURRENT INFECTION; SKIN BIOPSY; SKIN COLOR; SPLEEN;

BONE MARROW; FATAL OUTCOME; HAIR COLOR; HUMANS; INFANT; KERATINOCYTES; LIVER; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MELANOCYTES; PANCYTOPENIA; RECURRENCE; RESPIRATORY TRACT DISEASES; SKIN PIGMENTATION; SPLEEN; SYNDROME;

EID: 33745853150     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2005.11.1056     Document Type: Article

References (8)

1. Menasche G., Ho C.H., Sanal O., Feldmann J., Tezcan I., Ersoy F., et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 112 (2003) 450-456
2. Griscelli C., Durandy A., Guy Grand D., Daguillard F., Herzog C., and Prunieras M. A syndrome associating partial albinism and immunodeficiency. Am J Med 65 (1978) 691-702
3. Sanal O., Yel L., Kucukali T., Gilbert-Barnes E., Tardieu M., Tezcan I., et al. 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 (2000) 570-572
4. Menasche G., Pastural E., Feldmann J., Certain S., Ersoy F., Dupuis S., et al. Mutations in RAB27A cause Griscelli syndrome associated with hemophagocytic syndrome. Nat Genet 25 (2000) 173-176
5. Pastural E., Barrat F.J., Dufoureq-Lagelouse R., Certain S., Sanal O., Jabade N., et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin Va gene. Nat Genet 16 (1997) 289-292
6. Menasche G., Feldmann J., Huodusse A., Desaymard C., Fischer A., Goud B., et al. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Blood 101 (2003) 2736-2742
7. Duran-McKinster C., Rodriguez-Jurado R., Ridaura C., de la Luz Orozco-Covarrubias M.A., Tamayo L., and Ruiz-Maldonando R. Elejalde syndrome-a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. Arch Dermatol 135 (1999) 182-186
8. Bahadoran P., Ortonne J.P., Ballotti R., and de Saint Basile G. Comment on Elejalde syndrome and relationship with Griscelli syndrome. Am J Med Genet 116A (2003) 408-409