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Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients.
Arch Dermatol. 1999 Feb; 135(2):182-6.AD

Abstract

BACKGROUND

Silvery hair and severe dysfunction of the central nervous system (neuroectodermal melanolysosomal disease or Elejalde syndrome) characterize this rare autosomal recessive disease. Main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement (seizures, severe hypotonia, and mental retardation). Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. Differential diagnosis with Chédiak-Higashi syndrome and Griscelli syndrome must be done.

OBSERVATIONS

We studied pediatric patients with silvery hair and profound neurologic dysfunction. Immune impairment was absent. Age of onset of neurologic signs ranged from 1 month to 11 years; the signs included severe muscular hypotonia, ocular alterations, and seizures. Mental retardation since the first months of life was noted in 4 cases. Psychomotor development was normal in 3 cases, but suddenly the patients presented with a regressive neurologic process. Four patients died between 6 months and 3 years after the onset of neurologic dysfunction. One patient showed characteristic ultrastructural findings of Elejalde syndrome.

CONCLUSIONS

Elejalde syndrome is different from Chédiak-Higashi and Griscelli syndrome and is characterized by silvery hair and frequent occurrence of fatal neurologic alterations. Psychomotor impairment may have 2 forms of presentation: congenital or infantile. Although Elejalde syndrome and Griscelli syndrome are similar, the possibility that they are 2 different diseases, although probably allelic related, is suggested.

Authors+Show Affiliations

Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10052404

Citation

Duran-McKinster, C, et al. "Elejalde Syndrome--a Melanolysosomal Neurocutaneous Syndrome: Clinical and Morphological Findings in 7 Patients." Archives of Dermatology, vol. 135, no. 2, 1999, pp. 182-6.
Duran-McKinster C, Rodriguez-Jurado R, Ridaura C, et al. Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. Arch Dermatol. 1999;135(2):182-6.
Duran-McKinster, C., Rodriguez-Jurado, R., Ridaura, C., de la Luz Orozco-Covarrubias, M., Tamayo, L., & Ruiz-Maldonando, R. (1999). Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. Archives of Dermatology, 135(2), 182-6.
Duran-McKinster C, et al. Elejalde Syndrome--a Melanolysosomal Neurocutaneous Syndrome: Clinical and Morphological Findings in 7 Patients. Arch Dermatol. 1999;135(2):182-6. PubMed PMID: 10052404.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. AU - Duran-McKinster,C, AU - Rodriguez-Jurado,R, AU - Ridaura,C, AU - de la Luz Orozco-Covarrubias,M, AU - Tamayo,L, AU - Ruiz-Maldonando,R, PY - 1999/3/3/pubmed PY - 2000/5/8/medline PY - 1999/3/3/entrez SP - 182 EP - 6 JF - Archives of dermatology JO - Arch Dermatol VL - 135 IS - 2 N2 - BACKGROUND: Silvery hair and severe dysfunction of the central nervous system (neuroectodermal melanolysosomal disease or Elejalde syndrome) characterize this rare autosomal recessive disease. Main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement (seizures, severe hypotonia, and mental retardation). Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. Differential diagnosis with Chédiak-Higashi syndrome and Griscelli syndrome must be done. OBSERVATIONS: We studied pediatric patients with silvery hair and profound neurologic dysfunction. Immune impairment was absent. Age of onset of neurologic signs ranged from 1 month to 11 years; the signs included severe muscular hypotonia, ocular alterations, and seizures. Mental retardation since the first months of life was noted in 4 cases. Psychomotor development was normal in 3 cases, but suddenly the patients presented with a regressive neurologic process. Four patients died between 6 months and 3 years after the onset of neurologic dysfunction. One patient showed characteristic ultrastructural findings of Elejalde syndrome. CONCLUSIONS: Elejalde syndrome is different from Chédiak-Higashi and Griscelli syndrome and is characterized by silvery hair and frequent occurrence of fatal neurologic alterations. Psychomotor impairment may have 2 forms of presentation: congenital or infantile. Although Elejalde syndrome and Griscelli syndrome are similar, the possibility that they are 2 different diseases, although probably allelic related, is suggested. SN - 0003-987X UR - https://wwww.unboundmedicine.com/medline/citation/10052404/Elejalde_syndrome__a_melanolysosomal_neurocutaneous_syndrome:_clinical_and_morphological_findings_in_7_patients_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/vol/135/pg/182 DB - PRIME DP - Unbound Medicine ER -