Griscelli syndrome type 2: Long-term follow-up after unrelated donor bone marrow transplantation

Alfredo Rossi, Riccardo G. Borroni, Anna Maria Carrozzo, Catia De Felice, Adriana Menichelli, Marta Carlesimo, Stefano Calvieri

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair ('partial albinism'). Three forms exist; GS type 2 (GS2), the most common one, is characterized by severe primary immunodeficiency with acute episodes of hemophagocytic lymphohistiocytosis (HLH) which may be fatal in the absence of hematopoietic stem cell transplantation. A 5-year-old boy with HLH was referred to us because of silvery-gray hair present since birth. Abnormal pigment clumps were observed in the medulla of hair shafts on light microscopy. Electron microscopy of a skin biopsy revealed melanosomes in melanocytes, but not in keratinocytes. Leukocytes were devoid of intracytoplasmic granules on blood smear. Neurological signs were absent. Genotyping revealed a homozygous haplotype for polymorphic markers linked to the RAB27A locus, but no RAB27A mutation. A diagnosis of GS2 was established. The patient received bone marrow transplantation (BMT) from an unrelated donor, and after 72 months he did not show relapse of HLH. The long, uneventful follow-up supports the use of BMT from an unrelated donor if transplantation from a relative is not possible.

Original languageEnglish
Pages (from-to)376-379
Number of pages4
JournalDermatology
Volume218
Issue number4
DOIs
Publication statusPublished - Apr 2009

Fingerprint

Hemophagocytic Lymphohistiocytosis
Unrelated Donors
Bone Marrow Transplantation
Hair
Piebaldism
Melanosomes
Melanocytes
Hematopoietic Stem Cell Transplantation
Keratinocytes
Haplotypes
Microscopy
Electron Microscopy
Leukocytes
Transplantation
Parturition
Biopsy
Light
Recurrence
Skin
Mutation

Keywords

  • Bone marrow transplantation
  • Griscelli syndrome
  • Hemophagogytic lymphohistiocytosis
  • Partial albinism
  • Silvery hair

ASJC Scopus subject areas

  • Dermatology

Cite this

Griscelli syndrome type 2 : Long-term follow-up after unrelated donor bone marrow transplantation. / Rossi, Alfredo; Borroni, Riccardo G.; Carrozzo, Anna Maria; De Felice, Catia; Menichelli, Adriana; Carlesimo, Marta; Calvieri, Stefano.

In: Dermatology, Vol. 218, No. 4, 04.2009, p. 376-379.

Research output: Contribution to journalArticle

Rossi, Alfredo ; Borroni, Riccardo G. ; Carrozzo, Anna Maria ; De Felice, Catia ; Menichelli, Adriana ; Carlesimo, Marta ; Calvieri, Stefano. / Griscelli syndrome type 2 : Long-term follow-up after unrelated donor bone marrow transplantation. In: Dermatology. 2009 ; Vol. 218, No. 4. pp. 376-379.
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