title: Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation.
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.
authors.affiliation: Department of Dermatology, La Sapienza University, Rome, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Rossi
authors.forename: Riccardo G
authors.initials: RG
authors.lastname: Borroni
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Carrozzo
authors.forename: Catia
authors.initials: C
authors.lastname: de Felice
authors.forename: Adriana
authors.initials: A
authors.lastname: Menichelli
authors.forename: Marta
authors.initials: M
authors.lastname: Carlesimo
authors.forename: Stefano
authors.initials: S
authors.lastname: Calvieri
mesh_terms: D000417:Albinism / Q000378:metabolism / Q000473:pathology; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D006197:Hair / Q000737:chemistry / Q000473:pathology*; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D008297:Male; D008543:Melanins / Q000032:analysis; D008544:Melanocytes / Q000473:pathology; D020460:Melanosomes / Q000473:pathology; D009154:Mutation; D012867:Skin / Q000473:pathology; D013577:Syndrome; D020691:rab GTP-Binding Proteins / Q000235:genetics; D000075745:rab27 GTP-Binding Proteins
chemical_list: D008543:Melanins; D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins