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Article

Griscelli syndrome: a new phenotype with circumscribed pigment loss?

Dermatology online journal - 1 May 2007

Kharkar Vidya, Pande Sushil, Mahajan Sunanda, Dwiwedi Ravishankar, Khopkar Uday

Abstract excerpt

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...

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PMID: 17498436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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