Griscelli syndrome
| Classification according to ICD-10 | |
|---|---|
| E70.3 | Albinism |
| ICD-10 online (WHO version 2019) | |
The Griscelli syndrome also Griscelli Prunieras syndrome is a form of partial albinism connected to an immunodeficiency .
The name refers to the first publication from 1978 by the Parisian pediatrician Claude Griscelli .
Cause and classification
It is based on genetic disorders of the melanosomes. Depending on the underlying genetic defect, a distinction is made between three forms:
- Type I with mutations in the MYO5A gene at locus 15q21.2, which codes for myosin VA
- Type II with mutations in the RAB27A gene at locus 15q21.3
- Type III with mutations in the MLPH gene at locus 2q37.3
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
Clinical manifestations
It is a congenital disease with changes that can already be seen in childhood with sparse coloring of the skin and hair. All forms include albinism with hypomelanosis, increased infections as a result of reduced immune defenses, hepatosplenomegaly , neutropenia and thrombopenia .
- Type I with involvement of the nervous system, but no immune deficiency
- Type II with immunodeficiency
- Type III neither involvement of the nervous system nor immune deficiency
Differential diagnosis
The Chediak-Higashi syndrome is to be distinguished .
therapy
Type II with mutations in the RAB27A gene often results in a fatal hemophagocytotic syndrome. The treatment here is a bone marrow transplant .
literature
- P. Habermehl, S. Althoff, M. Knuf, JH Höpner: Griscelli Syndrome: A Case Report. In: Clinical Pediatrics. Vol. 215, No. 2, 2003, ISSN 0300-8630 , pp. 82-85, doi : 10.1055 / s-2003-38501 , PMID 12677548 .
Individual evidence
- ↑ Who named it
- ↑ C. Griscelli, M. Prunieras: Pigment dilution and immunodeficiency: a new syndrome. In: International Journal of Dermatology . Vol. 17, No. 10, 1978, pp. 788-791.
- ↑ GRISCELLI SYNDROME, TYPE 1; GS1. In: Online Mendelian Inheritance in Man . (English)
- ↑ GRISCELLI SYNDROME, TYPE 2; GS2. In: Online Mendelian Inheritance in Man . (English)
- ↑ GRISCELLI SYNDROME, TYPE 3; GS3. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b Orphanet
