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Griscelli syndrome type 2

Disease definition

A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair, in association with increased susceptibility to recurrent infections and immunological abnormalities, in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life.

ORPHA:79477

Classification level: Subtype of disorder
  • Synonym(s):
    • Griscelli-Pruniéras syndrome type 2
    • Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy
  • ICD-10: E70.3
  • ICD-11: 4A01.23
  • OMIM: 607624
  • UMLS: C1868679
  • MeSH: C537302
  • GARD: 4483
  • MedDRA: -

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

Detailed information

Guidelines

  • Clinical practice guidelines
  • English (2021) - J Eur Acad Dermatol Venereol

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.