Griscelli syndromeE70.3

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 22.06.2022

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Synonym(s)

Griscelli-Prunieras Syndrome; OMIM 214450 (GS1); OMIM 607624 (GS2); OMIM 609227 (GS3)

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HistoryThis section has been translated automatically.

Griscelli et al., 1978

DefinitionThis section has been translated automatically.

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).

EtiopathogenesisThis section has been translated automatically.

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.

Clinical featuresThis section has been translated automatically.

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).

Differential diagnosisThis section has been translated automatically.

Chédiak Higashi Syndrome

Hermansky-Pudlak syndrome

Waardenburg Syndrome

Oculocutaneous albinism

Note(s)This section has been translated automatically.

The gene products are decisively involved in intracellular vesicle transport. RAB27A specifically regulates the exocytosis of cytotoxic granules. Mutations in the RAB27A gene cause a hemophagocytotic syndrome. In these cases bone marrow transplantation is mandatory.

LiteratureThis section has been translated automatically.

  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.

Authors

Last updated on: 22.06.2022

Author: Prof. Dr. med. Peter Altmeyer