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Condition report · Dermatological

Griscelli Syndrome

A rare inherited condition causing silvery-grey hair and light skin. One type also affects the immune system and another affects the nervous system.

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The condition we analyse

Griscelli syndrome

Autosomal recessive

Partial albinism with silvery hair; type 1 (MYO5A) involves neurological problems, type 2 (RAB27A) causes life-threatening immune overactivation (HLH), and type 3 (MLPH) affects pigmentation only.

What a diagnosis changes

Type 2 needs prompt specialist care and usually stem cell transplantation.

Genes analysed

Also known as

ChC)diak-Higashi-like syndrome; Chédiak-Higashi-like syndrome; Griscelli disease; Griscelli-PruniC)ras syndrome; Griscelli-Pruniéras syndrome; partial albinism-immunodeficiency syndrome

Includes 3 related subtypes ↓
  • Griscelli syndrome type 1
  • Griscelli syndrome type 2
  • Griscelli syndrome type 3
MONDO:0018306Orphanet 381MedGen 585090

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