Griscelli syndrome E70.3

Rare, autosomal recessive disorder with diffuse hypopigmentation of skin and hair. The syndrome occurs in 3 different variants (GS type 1 to 3).

• Gricelli syndrome type 1 progresses without immunological defects.
• In Gricelli syndrome type 2 immunological defects occur. Histologically detectable are large pigment aggregates located in the hair shaft. Furthermore, the number of mature melanosomes is increased in melanocytes.
• Gricelli syndrome type 3 is characterized only by hypomelanosis with silvery hair and pale skin (Nouriel A et al. 2015).

The syndrome is genetically heterogeneous.

It is caused by mutations in the MYO5A gene, which codes for myosin VA (GS1), or in the RAB27A gene (GS2). The RAB27A and MYO5A genes are located in chromosome region 15q21. Patients with RAB27A mutations manifest cytotoxic defects and uncontrolled activation of T-lymphocytes and macrophages in addition to the pigment abnormality. The consequence is a so-called hemophagocytic lymphohistiocytosis. Patients with a defect of myosin-VA have, in addition to the pigment disorder, an early onset of neurological symptoms without disturbances of the immune system.

In GS3 (OMIM 609227) there is a mutation in the MLPH gene, which codes for the protein melaophilin.

Diffuse hypopigmentation of skin and hair, depending on the type, possibly associated with neurological disorders and immune defects. Untreated, the disease is fatal. Febrile attacks with hepatomegaly, lymphadenopathy, suppression of hematopoiesis cells and neurological disorders are characteristic. In contrast to the other syndromal albinism forms, patients with GS do not develop eye involvement (see oculocutaneous albinism below).

Chédiak Higashi Syndrome

Hermansky-Pudlak syndrome

Waardenburg Syndrome

Oculocutaneous albinism

1. Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M (1978) A syndrome associating partial albinism and immunodeficiency. On J Med. 65: 691-702
2. Griscelli C, Prunieras M (1978) Pigment dilution and immunodeficiency: a new syndrome. Int J Dermatol 17): 788-791
3. Habermehl S et al (2003) Griscelli syndrome: A case report. Clinical Pediatrics 215: 82-85

4. Nouriel A et al(2015) Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.
   Pediatric Dermatol 32:e245-248.