Synonym(s)
MIM 256710; Neuroectodermal melanolysomal syndrome
HistoryThis section has been translated automatically.
Elejalde et al., 1977
DefinitionThis section has been translated automatically.
Rare, congenital or early childhood acquired syndrome characterized by partial albinism with characteristic lackluster, silvery hair (disturbance of melanosome transfer from melanocytes to keratinocytes), bronze staining of sun-exposed skin areas and severe neurological symptoms (cerebral seizures, severe muscle hypotension, mental retardation). The immune system is not affected (see Griscelli syndrome below). Furthermore, disorders of the visual functions are described.
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Occurrence/EpidemiologyThis section has been translated automatically.
Very rare. So far, less than 100 cases have been described worldwide, mainly in Colombia, Mexico, USA.
EtiopathogenesisThis section has been translated automatically.
Unknown. Described are among others austosomal recessive inherited disorders of early melanin information.
ManifestationThis section has been translated automatically.
No gender preference.
Differential diagnosisThis section has been translated automatically.
Griscelli syndrome type 2 with cutaneous and immunological, but without primary neurological symptoms
Progression/forecastThis section has been translated automatically.
The affected patients usually die in childhood or adolescence before reaching the age of 18 LJ, especially due to neurological dysfunctions and psychomotor regression.
Note(s)This section has been translated automatically.
There is evidence of a complex relationship between Elejalde's syndrome (ES) and Griscelli's syndrome (GS). Type 1 GS with cutaneous and neurological symptoms is caused by mutations in the MYO5A/MYH12 gene, which codes for myosin 5A. This is a motor protein on actin and is responsible for the intracellular transport of organelles in melanocytes and nerve cells. Probably type 1 of Griscellie syndrome and Elejalde syndrome are allelic diseases.
LiteratureThis section has been translated automatically.
- Elejalde BR, Valencia A, Gilbert EF (1977) Neuro-ectodermal melanolysosomal disease: an autosomal recessive pigment mutation in man. At J Hum Genet 29: 39A
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Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer