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Image Number 2171 (Griscelli syndrome)

 
Morphology:
Hypopigmentation

Diagnosis: Griscelli syndrome

Site: Face

Sex: M

Age: 1

Type:

Description: Partial albinism and grey hair.

Submitted by: Nameer Al-Sudany

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Differential Diagnosis

History:

A less than one year old male infant presented with partial albinism, silver-grey hair, squint and recurrent skin (pyodermas) and respiratory tract infections. Blood analysis revealed neutropenia, thrombocytopenia and hypogammaglobulinemia. Direct hair examination under light microscope showed large, unevenly distributed melanin aggregates in the medulla. 



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