The two genes, mya5 and rab27a, are known to be the cause of this disease. The clinical semptoms of patients with griscellis syndrome are similar to that seen in chediakhigashi sydrome, but the granulocytes show giant cytoplasmic granules in the latter. The rab27a gene provides instructions for making a protein that is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells in saclike structures called vesicles. Three different types are caused by defects in three different genes. Nov 01, 2018 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 type 3, characterized by hypomelanosis with no. Light microscopic examination of scalp hair samples as an. Chakrapani 2 1 department of pathology, rangaraya medical college, kakinada, andhra pradesh, india 2 department of paediatrics, gsl medical college, rajahmundry, andhra pradesh, india click here for correspondence address and email. 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. Griscelli syndrome is a rare inherited disorder with autosomal recessive pattern. Griscellis syndrome the dictionary of medical eponyms.
Cerebellar involvement of griscelli syndrome type 2. Griscelli syndrome, hypertriglyceridemia, silvery hair. Elejalde syndrome is an extremely rare autosomal recessive syndrome only around 10 cases known consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen. As a result, most people with chediakhigashi syndrome have repeated and persistent infections starting in infancy or. 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. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. This syndrome is a rare inherited disorder that was originally described in 1978 7.
Griscelli syndrome type2 gs2 is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. Griscellis syndrome can be diagnosed with a typical clinical phenotype such as silvery hair and light skin color. Research of griscelli syndrome, type 2 has been linked to hypopigmentationimmunodeficiency disease, immunologic deficiency syndromes, lymphohistiocytosis, hemophagocytic, piebaldism, albinism. Pathology outlines hemophagocytic lymphohistiocytosis. Griscelli syndrome kumar t s, ebenazar s, moses pd indian j. Recently a new form of hpslike syndrome, known as hsp9, has been added to the causes of immunodeficiencyassociated albinism.
Griscelli syndrome, silverygray hair, melanosomes, pigmentary dilution, immunodeficiency 1. 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 type 2 is characterised by partial albinism and primary immunodeficiency. Case report 11 months old boy presented with fever, convulsions and. 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. Griscelli syndrome with fibronodular sclerodermatous. The griscelli syndrome is characterized by reduced skin pigmentation, often regarded as partial albinism, and silverygray hair combined in one type with immunodeficiency. Histopathology and phenotype identical to typical jxg, although usually greater fibrosis and less touton giant cells again, no consistent molecular findings generally a benign disease, although lesions in critical areas e. Familial hemophagocytic lymphohistiocytosis may be associated with primary immunodeficiency syndromes such as chediakhigashi syndrome, griscelli syndrome type 2, hermanskypudlak syndrome type 2 and xlinked lymphoproliferative disorder types 1 and 2 hematology am soc hematol educ program 2011. Griscelli syndrome type 2 gs2 is characterized by partial albinism, immunodeficiency, organomegaly and accelerated phases.
Neurologic problems may be the first sign of hs accelerated phase. The study of griscelli syndrome, type 2 has been mentioned in research publications which can be found using our bioinformatics tool below. Griscelli syndrome gs is a rare autosomal recessive disorder characterized by partial albinism. In the young baby, abnormalities are often congenital as part of a syndrome such as menkes, 1 nethertons, 2 trichothiodystrophy, 3, 4 chediakhigashi, 5 griscelli, 6 or uncombable hair syndrome. Rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport gene was characterized in 1996 as the lyst or chs1 gene on 1q4243 omim. Gs type 2 patients have the same hypopigmentation features but in association with immune pathology. Jan 14, 2020 griscelli syndrome ii can also cause neurologic manifestations in association with hs accelerated phase. Patients with gs type 1 have primary central nervous system dysfunction, type 2 patients commonly develop hemophagocytic lymphohistiocytosis, and type 3 patients have only partial albinism.
These problems are not as severe as those found in griscelli syndrome type 1 and tend to fluctuate. Clinical course is characterized by recurrent infection triggered by uncontrolled tlymphocyte and macrophage activation, called hemophagocytic syndrome. Review open access towards the targeted management of. Chakrapani 2 1 department of pathology, rangaraya medical college, kakinada, andhra pradesh, india 2 department of paediatrics, gsl medical college, rajahmundry, andhra pradesh, india. David weedon ao md frcpa fcaphon, in weedons skin pathology. 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 gs is a disorder of defective neutrophilic function with autosomal recessive inheritance. The differential diagnosis of gs includes disorders of pigment. Griscelli syndrome is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency, and an acute phase of uncontrolled tlymphocyte, and macrophage. 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. Chediak higashi syndrome nord national organization for. Griscelli syndrome with fibronodular sclerodermatous chronic graft versus host disease rahul naithani 1 indian journal of hematology and blood transfusion volume 34, pages 151 152 2018 cite this article.
Griscelli syndrome type 3, characterized by hypomelanosis with no immunologic. Rab27a mutation in a patient with griscelli syndrome type 2. Griscelli syndrome genetic and rare diseases information. Griscelli syndrome gs is a rare cutaneous disease characterized by a silverygray sheen. They are related to lymphocyte infiltration of the cns. Type 3 griscelli syndrome manifests with merely partial albinism.
Chediakhigashi syndrome is a condition that affects many parts of the body, particularly the immune system. Griscelli syndrome is an inherited condition characterized by unusually light hypopigmented skin and light silverygray hair starting in infancy. Neurological complications may accompany griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar. Elejalde syndrome is also referred to as neuroectodermal melanolysosomal disease. Griscelli syndrome with immune impairment, or griscelli syndrome type 2 607624, is caused by mutation in the rab27a gene 603868.
Still, the exact basis for elejalde syndrome remains to be defined. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with griscelli syndrome type 3. Griscelli syndrome type 3 genetic and rare diseases. Type i griscelli syndrome myo5a type ii griscelli syndrome is caused by the knock out of the gene for rab27a and is characterised by. Griscelli disease symptoms, diagnosis, treatments and.
Griscelli and prunieras 1 initially described griscelli syndrome, or partial albinism with immunodeficiency, in 1978. Partial albinism with immunodeficiency was described in 1978 by griscelli and michel prunieras in two patients and antonio g. We present a case of a 3yearold girl diagnosed with cerebellar involvement of griscelli syndrome type 2. Griscelli syndrome gs is a rare cutaneous disease characterized by a silvery gray sheen. Griscelli syndrome with immune impairment, or griscelli syndrome type 2, is caused by mutation in the rab27a gene. It is characterized by reduced pigmentation of the skin, silvery discoloration of the hair and immunodeficiency. The mother had conceived five times, resulting in one abortion, a. 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.
May 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 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Griscelli syndrome, also known as chediakhigashilike syndrome, is a rare inherited disorder characterized by partial albinism and abnormalities of platelets and white blood cells. A rare and fatal syndrome in a south indian boy r rajyalakshmi 1, r. Defects in myo5a cause neurologic pathology, whereas defects in rab27a do not cause neurologic defects. Black hair follicular dysplasia in large munsterlander.
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. Instead, treatment aims to reduce symptoms and prevent complications. Griscelli disease definition of griscelli disease by. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. It was first described by griscelli in 1978, and since then only approximately 60 cases have been reported, mostly from the turkish and mediterranean populations. Rab 27a mutation case report a dayold male baby born of second degree consanguineous parentage was brought for evaluation of excessively fair skin and silvery gray hair. Three variants of griscelli syndrome have been identified. This is a different entity from chediakhigashi syndrome, which also presents with 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, a rare, autosomal recessive disorder, results in hypopigmentation of the skin and the.
Three mutations have been described in different phenotypes of the disease. Typical silvery gray hair and hypopigmented skin of the proband at 9 months. Griscelli syndrome an overview sciencedirect topics. Light microscopic examination of scalp hair samples as an aid. Griscelli syndrome gs is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair silver hair, with the presence of large clumps of pigment in hair. Griscelli syndrome is further divided into three types based on the gene involved and the clinical manifestation varies accordingly. Patients with griscelli syndrome and normal pigmentation identify rab27a mutations that selectively disrupt munc4 binding valentina cetica, phd, a yvonne hackmann, phd,b samantha grieve,b elena sieni, md, benedetta ciambotti, phd, maria luisa coniglio, phd,a daniela pende, phd,c kimberly gilmour, md,d paolo romagnoli, md,e gillian m. Abnormalities of hair shafts may be congenital or acquired. 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 gs is a rare autosomal recessive disorder caused by mutation in the myo5a gs1, rab27a gs2, and mlph gs3. Griscelli syndrome type 2 indian journal of pathology and. An indian boy with griscelli syndrome type 2 indian journal of. Griscelli syndrome is an autosomal recessive condition meaning that two defective genes are inherited, one from each parent. Review open access clinical, laboratory and molecular. Griscelli syndrome type 2 is caused by a gene mutation involving rab27a, which affects a melanosomeanchoring complex in melanocytes, affecting release of cytolytic granules from t cells and natural killer cells. Griscelli disease symptoms, diagnosis, treatments and causes. Griscelli syndrome usually presents in infancy or early childhood, in most cases between the ages of 4 months and 7 years.
We hereby report year old girl who presented with cutaneous hypopigmentation, clinical and radiological evidence of neurologic involvement unaccompanied by other features of hemo. 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. Griscelli syndrome is a very rare autosomal recessive disorder with only about 60 cases reported in the literature. The largest series of patients has been reported in mexico. Introduction griscelli syndrome gs is rare autosomal recessive disorder with pigmentary dilution, immunodeficiency and neurological involvement 1,2. The mother had conceived five times, resulting in one abortion, a normal female child who is. A rare genetic disorder characterized mainly by albinism lack of pigmentation. 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 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. Chediak higashi syndrome chs, griscelli syndrome gs, hermanskypudlak type 2 syndrome hps2 and mapbpipdeficiency syndrome. Griscelli syndrome 2 is a rare autosomal recessive disorder of. David weedon ao md frcpa fcaphon, in weedons skin pathology third edition, 2010. Griscelli syndrome type 1 involves severe problems with. 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.
Griscelli syndrome type 1 genetic and rare diseases. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. 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. In human griscelli syndrome gs parts of this transport machinery are disrupted, leading to pigmentary dilution of the skin, a silvergrey sheen of the hair and the presence of large clumps of pigment in the hair shafts. There are three different subtypes of the disorder i, ii and iii each with varying additional features such as immunodeficiency and neurological symptoms. 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. For a discussion of phenotypic and genetic heterogeneity of griscelli syndrome, see griscelli syndrome type 1 gs1. Although the rab27a protein is found in cells and tissues throughout the body, it appears to be most critical in pigmentproducing cells called melanocytes and in certain immune system. Mutations cause megagranules in promyelocytes and myeloblasts, which persist in mature forms and are associated with neutropenia and recurrent. For each disorder, an analysis of the role of the gene in the relevant developmental pathway is provided, along with the mechanism by which mutations in the gene cause the developmental pathology. Patients with griscelli syndrome and normal pigmentation. Chediakhigashi syndrome genetics home reference nih.
Three types of griscelli syndrome have been identi. Emphasis is placed the developmental roles of genes in the. Griscelli worked at hospital neckerenfants malades in paris, france. Histopathological examination of skin biopsy shows hyperpigmented oval melanocytes with. Griscelli syndrome gs is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Pdf oral and dental findings of griscelli syndrome type 3.
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