Neuroectodermal melanolysosomal disease

The neuroectodermal melanolysosomale disease or Elejalde disease is a very rare congenital disorder characterized by pale skin, silvery thin hair and neurological deficits.

The disease is equated with Griscelli syndrome type I.

Epidemiology

The inheritance is autosomal - recessive , the frequency is given as less than one in a million.

literature

• C. Duran-McKinster, R. Rodriguez-Jurado, C. Ridaura, M. de la Luz Orozco-Covarrubias, L. Tamayo, R. Ruiz-Maldonando: Elejalde syndrome - a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients . In: Archives of Dermatology . Volume 135, Number 2, February 1999, pp. 182-186, ISSN  0003-987X . PMID 10052404 .

Individual evidence

1. ↑ ^{a b} Neuroectodermal melanolysosomal disease. In: Orphanet (Rare Disease Database).
2. ↑ P. Bahadoran, JP Ortonne, R. Ballotti, G. de Saint-Basile: Comment on Elejalde syndrome and relationship with Griscelli syndrome. In: American journal of medical genetics. Part A. Volume 116A, Number 4, February 2003, pp. 408-409, ISSN  1552-4825 . doi : 10.1002 / ajmg.a.10065 . PMID 12522801 .

Web links

• OMIM entry

See also

• Acrocephalopolydactyl dysplasia or Elejalde's syndrome

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !