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[Griscelli syndrome type 3: A new case].

H Kassem Youssef1, C Ramstein1, E Ginglinger2

  • 1Service de dermatologie, GHR Mulhouse Sud-Alsace, 87, avenue Altkirch, 68100 Mulhouse, France.

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|November 4, 2018
PubMed
Summary

Griscelli syndrome type 3, a rare genetic disorder causing hypopigmentation, was diagnosed late in a 31-year-old female. This isolated cutaneous form is confirmed by hair shaft analysis and MLPH gene sequencing.

Keywords:
Cheveux grisGray hairGriscelli syndromeGène MLPHLeucodermaLeucodermieMLPH geneSyndrome de Griscelli

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Area of Science:

  • Genetics
  • Dermatology
  • Rare Diseases

Background:

  • Griscelli syndrome (GS) is a rare autosomal-recessive disorder.
  • Characterized by hypopigmentation of skin and hair.
  • GS presents with three distinct clinical phenotypes based on genetic defects.

Observation:

  • A 31-year-old female presented with childhood-onset hair and skin depigmentation.
  • Microscopic hair shaft analysis revealed irregular melanin distribution.
  • Genetic testing identified a homozygous C103T (R35W) mutation in the MLPH gene.

Findings:

  • The patient was diagnosed with Griscelli syndrome type 3, an isolated cutaneous form.
  • GS type 1 and 2 involve central nervous system dysfunction and immune defects, respectively.
  • Diagnosis is confirmed by hair shaft microscopy and genetic analysis of MLPH.

Implications:

  • GS type 3 diagnosis relies on characteristic hair shaft morphology and MLPH gene mutations.
  • Early suspicion is crucial, especially in individuals of Arab or Turkish descent with gray, silvery hair.
  • This case highlights the importance of recognizing GS type 3 in adults with delayed diagnosis.