Griscelli, disease

[MIM 214 450607 624609 227]

(Partial albinism and immune deficit, Griscelli-Prunieras syndrome and Chediak-Higashi-like, silvery hair syndrome)

Extremely rare (< 1/106). Autosomal recessive transmission. The genes involved are responsible for the intracellular vesicular transport: MYO5A (transport of organelles in melanocyte and neuronal cells), RAB27A (regulation of secretion of cytotoxic granule exocytosis) or MLPD (transport of melanosomes in melanocytes by forming a complex with MYO5A and RAB27A).

The failure to transport the melanosomes of the melanocytes into the keratinocytes causes hypopigmentation of the skin (hypomelanosis) with silvery hair that can be associated with:

-        neurologic dysfunction (type 1): early and severe psychomotor retardation. Mutation of the MYO5A gene (15q21) coding for myosin Va. Elejalde syndrome could be a Variant.

-        immunodeficiency (type 2): frequent bacterial infections, neutropenia, hypoplaquettosis, and crises of uncontrolled activation of T lymphocytes and macrophages ( hematophagocytic syndrome : see this topic) with infiltration of lymph nodes and other organs (including the brain) by these activated cells; there may therefore also be secondary neurological signs; mutations in RAB27A gene on 15q21. Fatal condition in the absence of bone marrow transplantation.

-         or be isolated (type 3): mutations of the MLPH gene coding for melanophiline.


Anesthetic implications: 

-        type 1: mental retardation

-        type 2: check the platelets level; strict asepsis and precautions against infections; in case of bone marrow transplantation: anesthetic implications of an immunosuppressive therapy

-        type 3: nothing special


References : 

-        Hamidieh AA, Pourpak Z, Yari K et al. 
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. 
Pediatr Transplantation 2013; 17: 487-91.

-         Bahadoran P, Lipsker D. 
Leucodermies. 
EMC- Dermatologie Cosmétologie 2005; 2 : 20-42.


Updated: April 2019