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Griscelli syndrome type 2
ICD-10 Codes
Related ICD-10:
Description
Griscelli Syndrome Type 2 (GS2): A Rare Autosomal Recessive Disorder
Griscelli syndrome type 2, also known as partial albinism with immunodeficiency, is a rare autosomal recessive disorder characterized by variable cutaneous albinism, silver-colored metallic looking hair, frequent bacterial or viral infections, neutropenia, and thrombocytopenia [1][3].
Key Features:
- Variable cutaneous albinism
- Silver-colored metallic looking hair
- Frequent bacterial or viral infections
- Neutropenia (low white blood cell count)
- Thrombocytopenia (low platelet count)
Additional Characteristics:
- Pigmentary dilution of the skin and hair [5][12]
- Presence of large clumps of pigment in hair shafts [12]
- Accumulation of melanosomes in melanocytes [12]
Immunological Abnormalities:
- Impairment of T-cell function
- Increased susceptibility to recurrent infections
Hemophagocytic Lymphohistiocytosis (HLH):
- A life-threatening immune condition that can damage organs and tissues throughout the body [15]
Griscelli syndrome type 2 is a rare and complex disorder that affects multiple systems in the body, including the skin, hair, and immune system.
Additional Characteristics
- Thrombocytopenia (low platelet count)
- Accumulation of melanosomes in melanocytes
- Pigmentary dilution of the skin and hair
- Variable cutaneous albinism
- Silver-colored metallic looking hair
- Frequent bacterial or viral infections
- Neutropenia (low white blood cell count)
- Presence of large clumps of pigment in hair shafts
- Impairment of T-cell function
- Increased susceptibility to recurrent infections
- Hemophagocytic Lymphohistiocytosis (HLH)
- Life-threatening immune condition that can damage organs and tissues
Signs and Symptoms
Griscelli syndrome type 2 (GS2) is an autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of melanin in hair shafts resulting in silvery-gray hair, and other systemic features.
Common symptoms:
- Delayed development [8]
- Intellectual disability [8]
- Seizures [8]
- Weak muscle tone (hypotonia) [8]
- Eye and vision abnormalities [8]
Physical characteristics:
- Hypopigmentation of skin
- Silvery-gray hair due to large clumps of melanin in hair shafts [9]
- Enlarged liver (hepatomegaly)
- Hemophagocytosis
Note that these symptoms are based on the information provided in the search results, specifically from sources 8 and 9.
References: [8] - Delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities are common features of Griscelli syndrome type 2. [9] - Large clumps of melanin in hair shafts result in silvery-gray hair in individuals with GS2.
Additional Symptoms
- Seizures
- Intellectual disability
- Enlarged liver (hepatomegaly)
- Weak muscle tone (hypotonia)
- Delayed development
- Eye and vision abnormalities
- Hemophagocytosis
- Hypopigmentation of skin
- Silvery-gray hair due to large clumps of melanin in hair shafts
Diagnostic Tests
Diagnostic Tests for Griscelli Syndrome Type 2
Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. Diagnosing GS2 can be established by clinical signs and light microscopic examination, evidencing large clumps of pigment in hair shafts [3]. However, genetic testing is also crucial for confirming the diagnosis.
Clinical Tests
Several clinical tests are available to diagnose GS2, including:
- Complete blood count (CBC) to evaluate the immune system
- Ferritin test to assess iron levels
- Triglycerides and cholesterol tests to evaluate lipid metabolism
- Coagulation tests to assess bleeding risks
- IL-2 test to evaluate immune function
These clinical tests can help identify individuals with GS2, but genetic testing is essential for confirming the diagnosis [4].
Genetic Testing
Genetic testing for mutations in the RAB27A gene confirms the diagnosis of GS type 2. This gene plays a crucial role in melanosome formation and transport, which is affected in GS2 patients [7]. Genetic diagnosis should be pursued to determine the type of Griscelli syndrome, as early diagnosis is crucial in GS2.
Other Diagnostic Methods
In addition to clinical tests and genetic testing, other diagnostic methods may include:
- Light microscopic examination of hair shafts to identify large clumps of pigment
- Histopathological examination of skin biopsies to assess melanosome formation and transport
These diagnostic methods can help confirm the diagnosis of GS2 and differentiate it from other types of Griscelli syndrome.
References
[1] Alessandra, T. (2022). Diagnostic work up for Griscelli syndrome type 2. [Context result 4]
[2] Castaño-Jaramillo, L.M. (2021). Genetic diagnosis in Griscelli syndrome. [Context result 8]
[3] Context result 3
[4] Context result 4
[5] Context result 7
Additional Diagnostic Tests
- Complete blood count (CBC)
- Ferritin test
- Triglycerides and cholesterol tests
- Coagulation tests
- IL-2 test
- Genetic testing for mutations in the RAB27A gene
- Light microscopic examination of hair shafts
- Histopathological examination of skin biopsies
Treatment
Treatment Options for Griscelli Syndrome Type 2
Griscelli syndrome type 2 (GS2) is a rare and inherited condition that requires prompt medical attention. While there are various treatment options available, the most effective approach involves a combination of medications and hematopoietic stem cell transplantation.
- Antibiotics: Patients with GS type 2 can be given antibiotics to manage infections, which are a common complication of this condition [1].
- Steroids: Early treatment with non-specific immunomodulating drugs like steroids may help control excessive inflammation and symptoms of the disease [6]. However, it's essential to note that steroids should not delay hematopoietic stem cell transplantation (HSCT) if necessary.
- HLH-1994 regimen: This treatment protocol involves a combination of medications, including dexamethasone, etoposide, and cyclosporine. It has been shown to be effective in managing GS2 symptoms and stabilizing the disease [10].
- Ruxolitinib: This medication can help control excessive inflammation associated with GS2. Early diagnosis and rapid treatment with ruxolitinib are crucial for successful management of this condition [7].
Important Consideration
It's essential to note that while these treatments can manage symptoms and stabilize the disease, hematopoietic stem cell transplantation (HSCT) remains the only curative treatment option for GS2. Patients who undergo HSCT have a higher chance of survival compared to those who do not receive this treatment [3][8].
References
[1] Context 2 [6] Context 6 [7] Context 7 [8] Context 8 [10] Context 10
Recommended Medications
- Steroids
- Antibiotics
- HLH-1994 regimen
- ruxolitinib
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Griscelli Syndrome Type 2
Griscelli syndrome type 2 (GS2) is a rare genetic disorder characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). When considering the differential diagnosis for GS2, several conditions should be taken into account.
- Chédiak-Higashi Syndrome Type 1 (CHS1): This condition is a familial cause of HLH that differs from GS2 by the presence of abnormal giant cytoplasmic granules in leucocytes [7].
- Elejalde Disease: The differential diagnosis for GS type 1 also includes Elejalde disease, which shares similar characteristics with GS2 [7].
- Familial Causes of HLH (FHLH): Griscelli syndrome type 2 can be classified with other familial causes of HLH, such as Chédiak-Higashi syndrome type 1 and Griscelli syndrome type 1 [5].
These conditions should be considered in the differential diagnosis for GS2 due to their overlapping symptoms and characteristics. A thorough evaluation and diagnostic workup are necessary to accurately diagnose GS2.
References: [1] - Context result 7 [3] - Context result 5 [5] - Context result 9 [7] - Context result 7
Additional Differential Diagnoses
- Chédiak-Higashi Syndrome Type 1 (CHS1)
- Familial Causes of HLH (FHLH)
- disease
Additional Information
- relatedICD
- http://example.org/icd10/E71.12
- core#notation
- DOID:0060833
- rdf-schema#label
- Griscelli syndrome type 2
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0060831
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060833
- oboInOwl#hasDbXref
- UMLS_CUI:C1868679
- IAO_0000115
- A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.
- oboInOwl#hasExactSynonym
- partial albinism and immunodeficiency syndrome
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1796
- owl#annotatedSource
- t345903
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