Griscelli syndrome type 1 gs1 represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome menasche et al. Griscelli syndrome genetic trait causing partial albinism and frequent episodes of fever, decrease in blood platelets, and neutropenia. Griscelli syndrome is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair, presence of large clumps of pigment in hair shafts and an accumulation of melanosomes in melanocytes. Braz j med biol res, october 2008, volume 4110 839848. A syndrome associating partial albinism and immunodeficiency. A literature search revealed that griscelli syndrome gs has overlapping symptoms and signs. Type i griscelli syndrome myo5a type ii griscelli syndrome. Mim 214450 is a rare autosomal recessive disorder that results in a characteristic pigmentary dilution of the skin and the hair, with the presence of large clumps of. Griscelli syndrome gs is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair silver hair, the. Polarized light microscopy of hair shafts aids in the. Gs is classified into 3 types based on the genetic and molecular features. Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair.
Type 1 griscelli syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. In mitochondria, the bcs1l protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. Griscelli disease symptoms, diagnosis, treatments and. Griscelli syndrome type 2 a case report and clinical. Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the rab27a gene. Type 1 griscelli syndrome is associated with neurological dysfunction and is due to a. Tocilizumab, an antiil6 receptor antibody, to treat covid. Griscelli syndrome how is griscelli syndrome abbreviated. The diagnosis of griscelli syndrome type 2 was thus confirmed, and treatment was started with the hlh2004 protocol. The findings in skin and hair biopsies in griscelli. Griscelli syndrome kumar t s, ebenazar s, moses pd.
A rare genetic disorder characterized mainly by albinism lack of pigmentation. Griscelli syndrome gs is caused by mutations in the myo5a. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. The clinical types depend on the gene involved leading to a varied presentation. Griscelli c, durandy a, guygrand d, daguillard f, herzog c, prunieras m. Instead, treatment aims to reduce symptoms and prevent complications.
It is inherited in autosomal recessive form, and is distinguished by. There are three different subtypes of the disorder i, ii and iii each with varying. Griscelli syndrome gs is a rare autosomal recessive disorder, characterized by pigmentary dilution of the skin and hair and in most patients by abnormal regu. Griscelli syndrome gs is caused by mutations in the myo5a gs1, rab27a gs2, or mlph gs3 genes, all of which lead to a similar pigmentary dilution. It is of three types with a common feature of pigmentary dilution. An eight month old male infant presented with recurrent infections and partial albinism. Sciencedirect is a registered trademark of elsevier. Successful treatment of griscelli syndrome with unrelated donor. Griscelli syndrome type 2 genetic and rare diseases. Griscelli syndrome is an inherited condition characterized by unusually light.
Griscelli prunieras syndrome gs is a rare autosomal recessive disorder characterized by partial albinism. Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism hypopigmentation with immunodeficiency, that usually causes death by early childhood. Griscelli syndrome is an inherited condition characterized by unusually light hypopigmented skin and light silverygray hair starting in infancy. Patients with the autosomal recessive griscelli prunieras syndrome type ii are immunologically impaired and have an unusual silverygrey hypopigmented colour of scalp hair, eyelashes and eyebrows but no noteworthy pigmentary abnormalities of the skin. In our patients, the absence of giant granules in whi te blood cells and the microscopic findings of the hair were consistent with griscelli s syndrome 1,8. Griscelli and prunieras 1 initially described griscelli syndrome, or partial albinism with immunodeficiency, in 1978. Griscelli disease definition of griscelli disease by. Griscelli syndrome is a rare, autosomal recessive disease of partial albinism and variable immunodeficiency. Hemophagocytic syndrome in children should be differentiated from familial hlh, which is characterized by early onset, a higher prevalence of parental consanguinity, and an association with immune deficiencies, such as chediakhigashi syndrome, griscelli syndrome, and xlinked lymphoproliferative syndrome.
Griscelli worked at hospital neckerenfants malades in paris, france. Griscelli syndrome gs, a rare autosomal recessive disorder characterized by partial albinism and immunological impairment andor severe neurological impairment, results from mutations in the. For a discussion of phenotypic and genetic heterogeneity of griscelli syndrome, see griscelli syndrome. Splenomegaly, hypersplenism, and hereditary disorders with. Nk cytotoxicity mediated by cd16 but not by nkp30 is. Three mutations have been described in different phenotypes of the disease. This is a pdf file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of. Griscelli syndrome is a little frequent disease first described in 1978. It is inherited in autosomal recessive form, and is distinguished by partial albinism, pigmentation dilution, cellular. Pdf griscelli syndrome is a rare disorder with hypomelanosis of skin, silverygray hair due to abnormal melanosomal trafficking in. Griscelli syndrome type 2 also known as partial albinism with immunodeficiency is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair. Griscelli and siccardi described griscelli syndrome gs or partial albinism with cellular immunodeficiency for the first time in 1978 at a hospital in paris. Gs1, rab27a gs2, or mlph gs3 genes, all of which lead to a similar pigmentary dilution.
Griscelli syndrome and electroencephalography pattern scielo. Pdf griscelli syndrome is a little frequent disease first described in 1978. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome definition of griscelli syndrome by. Hair microscopy revealed clumps of melano somes in shaft of hair figure 1b and skin biopsy showed increased melanin in basal cell layer. Rab27a mutation in a patient with griscelli syndrome type 2. Giant cytoplasmic granules in leucocytes are evident in chediak higashi syndrome. This is a different entity from chediakhigashi syndrome, which also presents with partial albinism. Partial albinism with immunodeficiency was described in 1978 by griscelli and michel prunieras in two patients and antonio g. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. Griscelli syndrome is a rare autosomal recessive disease characterized by pigmentary dilution of skin and hair, variable cellular immunodeficiency and an acute phase of uncontrolled t lymphocyte and macrophage activation leading to fatal hemophagocytic syndrome. Griscelli syndrome gs is a rare cutaneous disease characterized by a silverygray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment type 1, immunologic impairment type 2 or be isolated type 3. Rab27b is upregulated in human griscelli syndrome type ii.
The patient underwent allogenic stem cell transplantation from his sister, who is an hlamatched donor. Gracile syndrome is caused by a mutation in the bcs1l gene. Initially a possibility of chediak higashi syndrome chs was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. Griscelli syndrome, type 2 how is griscelli syndrome. Pdf griscelli syndrome is a rare disorder with hypomelanosis of skin, silvery gray hair due to abnormal melanosomal trafficking in. Griscelli syndrome, a rare, autosomal recessive disorder, results in hypopigmentation of the skin and the hair, the presence of large aggregates of pigment in hair shafts and the accumulation of mature melanosomes in melanocytes. Toutes les informations et documents contenus dans ce site sont fournis uniquement a titre dinformation. The combination of pigment dilution and recurrent infectious episodes raised the diagnosis of chediakhigashi syndrome. Griscelli syndrome type 2 oxford academic journals.
Griscelli syndrome, albinism, haemophagocytic lymphohistiocytosis introduction griscelli syndrome gs, mim 214450 and 607624 is a rare, autosomal recessive disorder which results in generalised. Another condition called elejalde disease has many of the same signs and. Griscelli syndrome has an autosomal recessive pattern of inheritance. It is caused by mutations in either the myosinva myova or rab27a encoding gene. Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of.
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