Document Detail


Griscelli syndrome: a new phenotype with circumscribed pigment loss?
MedLine Citation:
PMID:  17498436     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Griscelli syndrome is a rare genetic immunodeficiency disorder characterized by pigment dilution, recurrent cutaneous and pulmonary infections, neurological deterioration, hypogammaglobulinemia, and defective cell-mediated immunity. Mutations of three distinct genes have been described in Griscelli syndrome with different phenotypes. The disease is usually fatal by the first decade of life. We report a 20-year-old female with Griscelli syndrome with circumscribed pigment loss over thighs and abdomen in addition to diffuse pigment dilution. An accelerated phase, similar to that described in Chediak-Higashi syndrome, was also observed in our case in the form of neurological deterioration. Survival of the patient beyond the first decade of life in the absence of specific therapy was also a distinctive feature.
Authors:
Vidya Kharkar; Sushil Pande; Sunanda Mahajan; Ravishankar Dwiwedi; Uday Khopkar
Related Documents :
8844066 - Premutation for the martin-bell syndrome analyzed in a large sardinian family: iii. mol...
20980806 - New insights into 5q- syndrome as a ribosomopathy.
11955926 - Three novel surf-1 mutations in japanese patients with leigh syndrome.
17322586 - The h723r mutation in the pds/slc26a4 gene is associated with typical pendred syndrome ...
920226 - Twenty psychotic males with klinefelter's syndrome.
7424196 - Necrotizing lesions in sjögren's syndrome. i. an immunofluorescent study.
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-05-01
Journal Detail:
Title:  Dermatology online journal     Volume:  13     ISSN:  1087-2108     ISO Abbreviation:  Dermatol. Online J.     Publication Date:  2007  
Date Detail:
Created Date:  2007-05-14     Completed Date:  2007-07-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9610776     Medline TA:  Dermatol Online J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  17     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Seth GS Medical College and KEM Hospital, Mumbai.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Agammaglobulinemia / diagnosis,  genetics
Albinism / diagnosis,  genetics
Chromosomes, Human, Pair 15 / genetics*
Female
Hepatomegaly / diagnosis,  genetics
Humans
Immunologic Deficiency Syndromes / diagnosis,  genetics*
Mental Retardation / diagnosis,  genetics
Pancytopenia / diagnosis,  genetics*
Phenotype*
Prognosis
Risk Assessment
Severity of Illness Index
Splenomegaly / diagnosis,  genetics
Syndrome

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


Previous Document:  Recurrent cutaneous leishmaniasis presenting as sporotrichoid abscesses: a rare presentation near Af...
Next Document:  Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome.