Griscelli syndrome type 2 a case report and clinical. Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silverygray hair and accumulation of melanosomes in melanocytes. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. David weedon ao md frcpa fcaphon, in weedons skin pathology third edition, 2010.
Individuals with gs may also be prone to developing neurological and immune system. Griscelli syndrome, albinism, haemophagocytic lymphohistiocytosis introduction griscelli syndrome gs, mim 214450 and 607624 is a rare, autosomal recessive disorder which results in generalised hypopigmentation of the skin and the hair, the presence of clumps of pigment in the hair shafts and an accumulation of melanosomes in the melanocytes. Griscelli syndrome gs is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Click on the link to view a sample search on this topic. Most patients also develop an uncontrolled tlymphocyte and macrophage activation syndrome known as.
Often, the first manifestation of griscelli syndrome gs is silver hair. Initially a possibility of chediak higashi syndrome chs was cons. 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 type 3, characterized by hypomelanosis with no. Griscelli and prunieras 1 initially described griscelli syndrome, or partial albinism with immunodeficiency, in 1978. Griscelli syndrome, indian journal of pediatrics 10. Griscelli disease definition of griscelli disease by. Three mutations have been described in different phenotypes of the disease. Griscelli syndrome gs type 2 is an autosomal recessive disorder represented by pigment dilution and impaired cytotoxic t lymphocyte ctl activity. A rare pigmentary disorder in two nonidentical siblings. 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, frequent bacterial or viral infections, neutropenia, and thrombocytopenia. Griscelli syndrome type 2 gs2 is a rare, inherited condition that affects the. Griscelli syndrome type 1 genetic and rare diseases. Pdf griscelli syndrome with hemophagocytic lymphohistiocytosis.
Griscelli syndrome type 2 genetic and rare diseases. Griscelli syndrome with immune impairment, or griscelli syndrome type 2 607624, is caused by mutation in the rab27a gene 603868. Griscelli syndrome is a little frequent disease first described in 1978. We describe a boy with classic features of griscelli syndrome type 2 from pakistan in. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair. Gs2 patients also develop an uncontrolled tlymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. For language access assistance, contact the ncats public information officer. 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.
Griscelli syndrome is an inherited condition characterized by unusually light hypopigmented skin and light silverygray hair starting in infancy. Mutations in rab27a cause griscelli syndrome associated. Instead, treatment aims to reduce symptoms and prevent complications. Griscelli syndrome kumar t s, ebenazar s, moses pd indian j. For a discussion of phenotypic and genetic heterogeneity of griscelli syndrome, see griscelli syndrome type 1 gs1. The three types of griscelli syndrome are caused by mutations in different genes. Grisel syndrome is a rare cause of torticollis that involves subluxation of atlantoaxial joint from inflammatory ligamentous laxity following an infectious process in the head and neck, usually a retropharyngeal abscess. Griscelli syndrome usually manifests in persons aged 4 months to 4 years. Griscelli syndrome an overview sciencedirect topics. Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair silver hair, the presence of large clumps of pigment in hair shafts, and. Esid registry working definitions for clinical diagnosis of pid april, 25, 2017 page 1 of 28 esid registry working definitions for clinical diagnosis of pid these criteria are only for patients with no genetic diagnosis.
Griscellis syndrome the dictionary of medical eponyms. Mutations in rab27a cause griscelli syndrome associated with. Either a primary neurological impairment or immune abnormalities are associated with this. Esid registry working definitions for clinical diagnosis of pid. Griscelli syndrome genetic trait causing partial albinism and frequent episodes of fever, decrease in blood platelets, and neutropenia. May 01, 2017 griscelli syndrome type 2 gs2 is a rare, inherited condition that affects the skin, hair, and immune system. Griscelli syndrome gs, mim 214450, a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in hair shafts and an accumulation of melanosomes in melanocytes. A hallmark of griscelli syndrome, a rare autosomal recessive disorder, is hair hypopigmentation characterized by a silvergray sheen and the presence of large clusters of pigment unevenly distributed in the hair shaft. All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Esid registry working definitions for clinical diagnosis of pid july 18, 2016 page 1 of 25 esid registry working definitions for clinical diagnosis of pid these criteria are only for patients with no genetic diagnosis. Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism hypopigmentation with immunodeficiency, that usually causes death by early childhood. 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. There are three types with different signs and genetic causes.
Very often there is also impaired natural killer cell activity, absent delayedtype hypersensitivity and a poor cell proliferation response to antigenic. People with griscelli syndrome gs tend to have a milder form of albinism characterized by pale skin and silvery gray hair at birth. Griscelli worked at hospital neckerenfants malades in paris, france. Griscelli syndrome definition of griscelli syndrome by. Initially a possibility of chediak higashi syndrome chs was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. Hearing, in emery and rimoins principles and practice of medical genetics, 20.
Patients with the autosomal recessive griscelliprunieras 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. Griscelli syndrome, type 2 how is griscelli syndrome, type. Although hermanskypudlak disease is a form of albinism, it does not present with silver hair or immunologic. Feb 01, 2004 an eight month old male infant presented with recurrent infections and partial albinism. Tell a friend about us, add a link to this page, or visit the webmasters page for free fun content. Griscelli syndrome genetic and rare diseases information. The three gs subtypes are commonly characterized by pigment dilution of the skin and hair, due to defects involving melanosome transport in melanocytes. An eight month old male infant presented with recurrent infections and partial albinism. This article is from korean journal of pediatrics, volume 57. Atypical scid, digeorge syndrome a known genetic defect and confirmation of criteria is mandatory. Jan 14, 2020 griscelli syndrome gs is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair silver hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis hlh.
Very often there is also impaired natural killer cell activity, absent delayedtype hypersensitivity and a poor cell. It is inherited in autosomal recessive form, and is distinguished by partial albinism, pigmentation dilution, cellular. Silvery gray hair is common to all three, but immunological defects are only seen in the patients with griscelli syndrome type 2 2,3,7. Griscelli syndrome gs is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair silver hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Within these cells, the proteins work together to transport. Griscelli syndrome how is griscelli syndrome abbreviated. This syndrome is a rare inherited disorder that was originally described in 1978 7. Type 1 results from mutations in the myo5a gene, type 2 is caused by mutations in the rab27a gene, and type 3 results from mutations in the mlph gene the proteins produced from these genes are found in pigmentproducing cells called melanocytes. Mlph consists of 16 exons 15 coding exons located on chromosome 2q37, and is the human orthologue of the mouse leaden ln gene.
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. Here, we describe a new patient, possessing a hemophagocytic syndrome with a homozygous q118x nonsense rab27a mutation. The gene mya5 has severe neurological problems as a typical sign, and the gene rab27a has an accelerated phase that can be lethal within a short period of time. Griscelli syndrome is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency, and an acute phase of uncontrolled tlymphocyte, and macrophage. In most griscelli patients, the rab27a gene, which encodes a small gtpase that is associated with the melanosome membrane in melanocytes, is. Pubmed is a searchable database of medical literature and lists journal articles that discuss griscelli syndrome type 1. Griscelli syndrome gs is a rare autosomal recessive disorder caused by mutations in either the myosin va gs1, rab27a gs2 or melanophilin gs3 genes.
The neurologic effects of griscelli syndrome type 1 usually manifest early in life and even at birth. Either a primary neurological impairment or immune abnormalities are associated with this phenotype. The associated immunodeficiency often involves impaired natural killer cell activity, absent delayedtype hypersensitivity, and a. Patients with type 2 are prone to recurrent infections and they develop hemophagocytic lymphohistiocytosis hlh. It is a rare and not widely known disease, and its clinical features such as silverygray hair and immunological dysfunction resemble chediakhigashi syndrome chs, an erythrophagocytic. Three types of griscelli syndrome have been identi. Griscelli syndrome gs is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent. The two genes, mya5 and rab27a, are known to be the cause of this disease. Mutations in rab27a cause griscelli syndrome associated with haemophagocytic syndrome. 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, frequent bacterial or viral infections, neutropenia, and thrombocytopenia 866. Griscelli syndrome with immune impairment, or griscelli syndrome type 2, is caused by mutation in the rab27a gene. People with gs2 have unusually light skin and silvercolored hair.
Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair. Nk activity has been scarcely investigated in gs patients. A literature search revealed that griscelli syndrome gs has overlapping symptoms and signs. Rab27b is upregulated in human griscelli syndrome type ii. Nusrat bashir at sheri kashmir institute of medical sciences. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Rab27a mutation in a patient with griscelli syndrome type 2. Griscelli syndrome type 2 gs2 is a rare, inherited condition that affects the skin, hair, and immune system. Three variants of griscelli syndrome have been identified. Griscelli syndrome is defined by the characteristic hypopigmentation, with frequent pyogenic infection, enlargement of the liver and spleen, a low blood neutrophil level, low blood platelet level, and immunodeficiency. Griscelli syndrome type 1 gs1 represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome menasche et al. If you have problems viewing pdf files, download the latest version of adobe reader. Griscelli syndrome is an inherited condition characterized by hypopigmented skin, silvergray hair, neurological and immune system abnormalities.
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. An albinoidism marked by hypomelanosis, frequent pyogenic infection, hepatosplenomegaly, neutro and thrombopenia, and immunodeficiency. Partial albinism with immunodeficiency was described in 1978 by griscelli and michel prunieras in two patients and antonio g. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis hlh. Most cases reported are from turkish and mediterranean populations. Griscelli syndrome kumar t s, ebenazar s, moses pd.
Nk cytotoxicity mediated by cd16 but not by nkp30 is. Esid registry working definitions for clinical diagnosis. Griscelli syndrome, type 2 how is griscelli syndrome. Pdf griscelli syndrome is a rare disorder with hypomelanosis of skin. Griscelli syndrome gs is a fatal autosomal recessive disorder, first described by griscelli et al.
Three different types caused by mutation in three different genes have been described. Depending on individual symptoms, individuals with gs should be regularly monitored by a geneticist, hematologist blood specialist, dermatologist skin doctor, neurologist nervous system specialist, and. This is a different entity from chediakhigashi syndrome, which also presents with partial albinism. Mar 01, 2020 a registry supports research by collecting of information about patients that share something in common, such as being diagnosed with griscelli syndrome type 1. Griscelli syndrome with hemophagocytosis international journal of. The findings in skin and hair biopsies in griscelli. Severe neurologic symptoms are noticeable without any sign of an hemophagocytic syndrome hs, accelerated phase. Griscelli syndrome type 2 a case report and clinical approach to. Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the rab27a gene.
Griscelli syndrome gs is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin partial albinism. In addition, they tend to develop clumps of pigment at the hairline and in melanocytes, a type of skin cell. Griscelli syndrome is a rare disease in all populations. The griscelli syndrome is characterized by reduced skin pigmentation, often regarded as partial albinism, and silverygray hair combined in one type with immunodeficiency.
Griscelli syndrome was first described by griscelli and. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Omim 609227 results from mutations in mlph 581,582. 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. Griscelli syndrome type 1 involves severe problems with. Griscelli syndrome gs is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver.
183 1526 1207 1239 1495 1198 407 1277 808 752 1316 783 898 133 712 645 4 188 461 651 597 919 1318 569 631 788 88 1151 1466 888 850 964 33 1346 329 351 980 305 671 321 594 1499 1193 65 1204 835 1377