Spontaneous repigmentation of silvery hair in an infant with. They are related to lymphocyte infiltration of the cns. An eight month old male infant presented with recurrent infections and partial albinism. Griscelli syndrome type 3 609227, characterized by. Griscelli syndrome is a rare autosomal recessive disorder. Three variants of griscelli syndrome have been identified. Hematopoietic sct in children with griscelli syndrome. Griscelli syndrome was first described by griscelli and. Griscelli syndrome is further divided into three types based on the gene involved and the clinical manifestation varies accordingly. Griscelli syndrome, also known as chediakhigashilike syndrome, is a rare inherited disorder characterized by partial albinism and abnormalities of platelets and white blood cells. Griscelli syndrome gs is a rare autosomal recessive disorder, characterized by pigmentary dilution of the skin and hair and in most patients by abnormal regulation of the immune system, which. It is inherited in autosomal recessive form, and is distinguished by partial albinism, pigmentation dilution, cellular. Griscelli syndrome type2 is a rare autosomal recessive disorder mutation in rab27a.
Griscelli syndrome type 1 involves severe problems with. On the basis of their study, the authors suggest that the neurological involvement in these patients with gs occurs secondarily to the hemophagocytic syndrome and that. Griscelli syndrome gs is a rare autosomal recessive disorder first described by griscelli et al in 1978 6. Jan 26, 2015 griscelli syndrome is an autosomal recessive disease that is characterized by hypopigmentation of the skin and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes. Very often there is also impaired natural killer cell activity, absent delayedtype hypersensitivity and a poor cell proliferation response to antigenic. Griscelli syndrome with hemophagocytosis international journal of. In total, 11 consecutive pediatric patients with griscelli syndrome gs type 2, who received allogeneic hematopoietic sct ahsct at our. With cloning of the griscelli syndrome genes, direct mutationbased carrier detection and prenatal diagnosis is possible in families. Successful treatment of griscelli syndrome with unrelated. Jan 14, 2020 griscelli syndrome ii can also cause neurologic manifestations in association with hs accelerated phase. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome rare autosomal recessive disorder is a disorder of melanosome transport, and divided into several types. These mutations cause a form of the condition designated type 2, which is characterized by unusually light hypopigmented skin, silverygray hair, and immune system abnormalities. Griscelli syndrome gs is an autosomal recessive multisystem genetic disorder of partial albinism along with neurological andor immunological defects.
A literature search revealed that griscelli syndrome gs has overlapping symptoms and signs. This leads to large, clumped melanosomes in hair shafts, resulting in hair that has a silverygray sheen. Griscelli syndrome kumar t s, ebenazar s, moses pd indian j. Pdf clinical presentation of griscelli syndrome type 2. Griscelli syndrome, cutaneous and neurological type. Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders. Examination showed silverygray hair figure 1a, bilateral papilledema, spastic quadriparesis, brisk musclestretch reflexes, extensor plantars, hepatosplenomegaly, and normally pigmented skin, iris, and retina.
Griscelli syndrome gs is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. Griscelli syndrome is a little frequent disease first described in 1978. These problems are not as severe as those found in griscelli syndrome type 1 and tend to fluctuate. Most patients with gs display the hemophagocytic syndrome and have mutations in rab27a, which codes for a small gtpase. Griscelli syndrome gs is a rare autosomal recessive disorder caused by mutation in the myo5a gs1, rab27a gs2, and mlph gs3 genes, characterized by a common feature, partial albinism. Cerebellar involvement of griscelli syndrome type 2 bmj. The albinism is present at birth and patients with immunodeficiency develop. Patients with type 2 are prone to recurrent infections and they develop hemophagocytic lymphohistiocytosis hlh. Hair microscopy confirmed griscelli syndrome gs figure 1, bd. Griscelli syndrome gs patients and the corresponding mouse model ashen exhibit defects mainly in two types of lysosomerelated organelles, melanosomes in melanocytes and lytic granules in ctls. Evidence that griscelli syndrome with neurological. 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. View enhanced pdf access article on wiley online library html view download pdf for offline viewing.
The three gs subtypes are commonly characterized by pigment dilution of the skin and hair, due to defects involving melanosome transport in melanocytes. 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. Griscelli syndrome with immune impairment, or griscelli syndrome type 2 607624, is caused by mutation in the rab27a gene 603868. Chediakhigashi syndrome chs, elejalde syndrome es, and griscelli syndrome gs. The findings in skin and hair biopsies in griscelli. Griscelli syndrome genetic and rare diseases information. Griscelli syndrome gs is a rare autosomal recessive disorder caused by mutations in either the myosin va gs1, rab27a gs2 or melanophilin gs3 genes. Griscelli disease symptoms, diagnosis, treatments and. Mutations in rab27a cause griscelli syndrome associated with. Griscelli syndrome type 1 gs1 represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome menasche et al.
Several patients from this kindred displayed neurological manifestations related to the hemophagocytic syndrome hps. Three different types are caused by defects in three different genes. Abstractgriscelli syndrome type 2 gs2 is a rare autosomal recessive disease caused by mutations. A spontaneous neurological mutation, diluteopisthotonus dop. Griscelli syndrome type 2 genetic and rare diseases information. 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 symptoms hypopigmentation frequent pyogenic infection hepatosplenomegaly neutropenia thrombocytopenia impaired nk. 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. Griscellis syndrome the dictionary of medical eponyms. 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 type 1 disease ontology browser doid. Griscelli syndrome type 2 genetic and rare diseases. For a discussion of phenotypic and genetic heterogeneity of griscelli syndrome, see griscelli syndrome type 1 gs1. We report the case of a 2monthold male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism hypopigmentation with immunodeficiency, that usually causes death by early childhood. 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. Chediak higashi syndrome nord national organization for. In addition, given the proximity of the two genes responsible for griscelli syndrome types 1 and. Griscelli syndrome an overview sciencedirect topics. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are nystagmus and diplopia disease ontology.
Griscelli syndrome, a rare, autosomal recessive disorder. If you have problems viewing pdf files, download the latest version of adobe. Seizure as the presenting manifestation in griscelli syndrome. Mutations in one of two different genes on chromosome 15q can cause the different subtypes of gs. Myosin va mutation in rats is an animal model for the human hereditary neurological disease, griscelli syndrome type 1. A rare genetic disorder characterized mainly by albinism lack of pigmentation. Clinical presentation of griscelli syndrome type 2 and. Griscelli syndrome is an inherited condition characterized by unusually light hypopigmented skin and light silverygray hair starting in infancy. Jci functional redundancy of rab27 proteins and the. Griscelli syndrome usually presents in infancy or early childhood, in most cases between the ages of 4 months and 7 years.
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. A collection of disease information resources and questions answered by our. Two patients presented with silvery gray hair and a history of recurrent pyogenic infections, however, the giant leukocytic granules characteristic of chediakhigashi syndrome were not seen6. We report the case of a 2monthold male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative. Histopathology of griscelli syndrome gs involves prominent, mature melanosomes in skin and hair follicle melanocytes, but sparse pigmentation of adjacent keratinocytes. Neurological complications may accompany griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of griscelli syndrome type 2 in the. Griscelli syndrome type 2 a case report and clinical approach to. Initially a possibility of chediak higashi syndrome chs was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. Spontaneous repigmentation of silvery hair in an infant. This is a different entity from chediakhigashi syndrome, which also presents with partial albinism. Platelet storage pool disorders linkedin slideshare. Hearing, in emery and rimoins principles and practice of medical genetics, 20. People with gs2 have unusually light skin and silvercolored hair.
Griscelli syndrome is a rare inherited disorder with autosomal recessive pattern. Neurologic problems may be the first sign of hs accelerated phase. 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. At least 24 mutations in the rab27a gene have been found in people with griscelli syndrome. Griscelli disease symptoms, diagnosis, treatments and causes. This article is from korean journal of pediatrics, volume 57. 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. It is characterized by pigment dilution and variable immune deficiency leading to increased susceptibility to certain infections and a tendency to develop a lifethreatening hemophagocytic syndrome known as the accelerated phase. Pdf griscelli syndrome is a rare disorder with hypomelanosis of skin. Griscelli syndrome type3 europe pmc article europe pmc.
Three mutations have been described in different phenotypes of the disease. Griscelli syndrome types 1 and 2 europe pmc article. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. 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. Griscelli syndrome gs, a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe neurological impairment or both. Jci griscelli syndrome restricted to hypopigmentation. 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. A 3yearold boy developed viral illness followed by fever, altered sensorium, focal seizures, and neuroregression. Griscelli syndrome type 2 is caused by mutations in the rab27a gene and has predominant immunologic abnormalities. May 01, 2017 griscelli syndrome type 2 gs2 is a rare, inherited condition that affects the skin, hair, and immune system. Partial albinism with immunodeficiency was described in 1978 by griscelli and michel prunieras in two patients and antonio g. Griscelli syndrome type 2 gs2 is a rare, inherited condition that affects the skin, hair, and immune system. Griscelli syndrome 1 is a rare, autosomal recessive disease of partial albinism and variable immunodeficiency. There are three different subtypes of the disorder i, ii and iii each with varying additional features such as immunodeficiency and neurological symptoms.
There is no treatment for gs1 and quality of life depends on the severity of neurological impairment. Griscelli syndrome gs, mim 214450, a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of. 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. Griscelli syndrome type2 is a rare autosomal recessive disorder mutation in rab27a gene characterized by partial albinism with variable immunodeficiency. 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. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis hlh.
Griscelli syndrome is an autosomal recessive condition meaning that two defective genes are inherited, one from each parent. 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. Griscelli syndrome is characterized by partial albinism with variable immunodeficiency. Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. Jun 14, 2019 griscelli syndrome type2 is a rare autosomal recessive disorder mutation in rab27a gene characterized by partial albinism with variable immunodeficiency. Showing of 23 80%99% of people have these symptoms abnormality of movement movement disorder unusual movement. 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. There are three types with different signs and genetic causes. Hair microscopy confirmed griscelli syndrome gs figure 1. Omim 609227 results from mutations in mlph 581,582. Clinical presentation of griscelli syndrome type 2 and spectrum of rab27a mutations.
Lewis, in principles and practice of pediatric infectious diseases fifth edition, 2018. Mutations in rab27a cause griscelli syndrome associated. Griscelli syndrome is an inherited condition characterized by hypopigmented skin, silvergray hair, neurological and immune system abnormalities. This disease is caused by lossoffunction mutations in rab27a, which encodes 1 of the 60 known rab gtpases, critical regulators of vesicular transport. Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the. Very often there is also impaired natural killer cell activity, absent delayedtype hypersensitivity and a poor cell.
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