Abstract
Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair, hemophagocytic lymphohistiocytosis and characteristic light microscopy findings in scalp hair shaft seen as large irregular clumps of pigment as opposed to the evenly distributed pigment along the hair shaft without any clumps. We describe a boy with classic features of Griscelli syndrome type 2 from Pakistan in whom a homozygous mutation in the RAB27A gene was identified that showed a single base substitution (c.598C>T) predicted to cause premature protein termination (p.Arg200∗). We also present a clinical approach to silver blonde hair differentiating between the Griscelli syndrome types 1, 2 and 3, Chediak Hegashi Syndrome and Elejalde Syndrome.
Highlights
Griscelli syndrome (GS) is a rare autosomal recessive disorder that was first described by Griscelli et al in 1978 [1]
We present the first case of GS-2 from Pakistan in whom a homozygous non-sense mutation in the RAB27A gene was confirmed
The secondary central nervous system (CNS) involvement in GS-2 is caused by the infiltration of lymphocytes and histiocytes as a result of hemophagocytic syndrome
Summary
Griscelli syndrome (GS) is a rare autosomal recessive disorder that was first described by Griscelli et al in 1978 [1]. Mutations in the MYO5A gene causing GS-1 (OMIM # 214450) are clinically similar to Neuroectodermal melanolysosomal disease GS-2 (OMIM # 607624) is caused by mutations in the RAB27A gene and is characterized by severe immunological impairment without primary neurological impairment [4]. GS-3 (OMIM # 609227) is caused by a defect in the MLPH gene and presents with only partial albinism and silvery hair without the neurologic and immunologic involvement [2]. Patients with GS-2 succumb to illness due to the accelerated hemophagocytic syndrome phase secondary to immunological impairment unless an early bone marrow transplant (BMT) is performed [6]. Production and hosting by Elsevier B.V. on behalf of Ain Shams University We present the first case of GS-2 from Pakistan in whom a homozygous non-sense mutation in the RAB27A gene was confirmed
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