Document Detail


Silvery hair with bronze-tan in a child: A case of Elejalde disease.
MedLine Citation:
PMID:  18032864     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 5-year-old boy was admitted for severe neurological impairment including hypotonia and loss of consciousness without preceding febrile illness. On examination, he had silver colored hair and bronze-tan over photo-exposed body parts. He was born of consanguineous parents and three of his elder siblings, who died in early childhood, had similar colored hair. Complete blood count and serum immunoglobulin levels were within normal limits. Peripheral blood smear did not show any cytoplasmic granules in neutrophils. Cerebro-spinal fluid examination did not reveal any abnormality. Light microscopic examination of the hair revealed irregular clumping of the melanin throughout the shafts. The patient died on the second day following admission. A clinical diagnosis of Elejalde disease was made. The clinical and genetic overlapping of the three silvery-hair syndromes has been discussed.
Authors:
Arun C Inamadar; Aparna Palit
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian journal of dermatology, venereology and leprology     Volume:  73     ISSN:  0973-3922     ISO Abbreviation:  Indian J Dermatol Venereol Leprol     Publication Date:    2007 Nov-Dec
Date Detail:
Created Date:  2007-11-22     Completed Date:  2008-02-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7701852     Medline TA:  Indian J Dermatol Venereol Leprol     Country:  India    
Other Details:
Languages:  eng     Pagination:  417-9     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Venereology and Leprosy, BLDEA's SBMP Medical College, Hospital and Research Centre, Bijapur, Karnataka, India. aruninamadar@rediffmail.com
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Consanguinity
Hair / abnormalities*
Humans
Male
Melanins / metabolism
Muscle Hypotonia / etiology
Neurocutaneous Syndromes / diagnosis*
Pigmentation Disorders / diagnosis*
Unconsciousness / etiology
Chemical
Reg. No./Substance:
0/Melanins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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