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Griscelli syndrome.

Patrick O Emanuel1, Lauren J Sternberg, Robert G Phelps

  • 1Department of Dermatopathology, Mount Sinai School of Medicine, 1 Gustave L. Levy Place, New York, NY 10029, USA. patrick.emanu@mssm.edu

Skinmed
|May 8, 2007
PubMed
Summary
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Griscelli syndrome type 2, a rare genetic disorder, was diagnosed in a young girl with silver-gray hair and fair skin. This condition affects melanocyte function, impacting hair and skin pigmentation.

Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • A 22-month-old Hispanic girl presented with abnormal hair and fair skin, with a family history of consanguinity.
  • The patient exhibited developmental delays, lethargy, and hypotonia after a normal first year of life.
  • Initial metabolic workup was negative, and clinical suspicion pointed towards Chediak-Higashi syndrome.

Observation:

  • Clinical examination revealed generalized fair skin, silver-gray hair, and white eyebrows and body hair.
  • Microscopic examination showed enlarged epidermal melanocytes filled with melanin, with adjacent keratinocytes lacking pigment.
  • Hair shaft analysis revealed irregular melanin clumps, and ultrastructural studies indicated accumulation of mature melanosomes within melanocytes.

Findings:

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  • Pathological findings, including prominent melanocytes with aggregated melanosomes and characteristic hair shaft abnormalities, were inconsistent with Chediak-Higashi syndrome.
  • The absence of abnormal granules in peripheral blood smears further differentiated the condition.
  • The diagnosis was confirmed as Griscelli syndrome type 2 based on the distinct clinical and pathological features.

    • Implications:

    • This case highlights the importance of detailed clinical and pathological evaluation for diagnosing rare genetic disorders.
    • Accurate diagnosis of Griscelli syndrome type 2 is crucial for appropriate management and genetic counseling.
    • Further research into the molecular mechanisms of Griscelli syndrome type 2 may lead to targeted therapies.