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Griscelli syndrome type 3
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Description
Griscelli syndrome type 3 (GS3) is a rare autosomal recessive disorder that results in a characteristic pigmentary dilution of the skin and hair [9]. It is characterized by hypomelanosis with no immunological and neurological manifestation, and the prognosis is very good in type 3 GS, usually requiring no treatment [1][2].
The main features of Griscelli syndrome type 3 include:
- Partial albinism: Affected individuals present with pigment dilution and no other systemic problems [4].
- Hypopigmentation: The skin and hair are lighter than usual, giving a silvery-gray sheen to the hair and hypopigmentation of the skin [6][8].
- Isolated silvery gray sheen of the hair and hypopigmentation of the skin: This is due to a mutation in the MLPH gene [5].
Griscelli syndrome type 3 is caused by mutations in either the MYO5A or RAB27A genes, which are responsible for the production of melanin, the pigment that gives color to the skin and hair [7]. It is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy [3].
Overall, Griscelli syndrome type 3 is a rare but benign condition that affects the pigmentation of the skin and hair.
Additional Characteristics
- Hypopigmentation
- Partial albinism
- Isolated silvery gray sheen of the hair and hypopigmentation of the skin
Signs and Symptoms
Griscelli syndrome type 3 (GS3) is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, presenting with a silvery-gray sheen in the hair and hypopigmentation of the skin. This form of the syndrome does not involve immunologic or neurologic manifestations.
The signs and symptoms of Griscelli syndrome type 3 include:
- Pigmentary dilution of the skin: The skin appears lighter than normal, with a silvery-gray sheen.
- Silvery-gray hair: The hair has a characteristic silvery-gray color.
- Hypopigmentation: The skin and hair have reduced pigmentation.
According to [8] and [15], Griscelli syndrome type 3 is characterized by the absence of immunologic or neurologic manifestations, which distinguishes it from other types of Griscelli syndrome. This form of the syndrome typically presents with a silvery-gray sheen in the hair and hypopigmentation of the skin.
References: [8] - Griscelli syndrome type 3 (GS3) is a rare autosomal recessive disorder that results in a characteristic pigmentary dilution of the skin and hair. [15] - Griscelli Syndrome, Type 3 (GS3) Griscelli syndrome type 3 is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, presenting with a silvery-gray sheen in the hair and hypopigmentation of the skin.
Additional Symptoms
- Silvery-gray hair
- Hypopigmentation
- Pigmentary dilution of the skin
Diagnostic Tests
Griscelli syndrome type 3 (GS) is characterized by hypomelanosis with no immunological and neurological manifestation [1]. While there are no specific diagnostic tests mentioned for GS type 3, the diagnosis can be established through clinical signs and light microscopic examination, which may show large clumps of pigment in hair [2].
However, it's worth noting that routine investigations such as complete blood count, liver function tests, renal function tests, blood sugar, urine microscopy, and ultrasound abdomen are not typically used to diagnose GS type 3 [3]. Instead, these tests may be used to rule out other conditions.
Imaging studies like CT and MRI of the head can be used to assess Griscelli syndrome (GS), but findings are usually normal at birth. When the disease manifests, imaging studies may show abnormalities [4].
In terms of diagnostic tests specifically for GS type 3, there is limited information available. However, it's essential to note that a diagnosis of GS type 3 can be established through clinical evaluation and light microscopic examination.
Diagnostic Tests:
- Clinical signs and light microscopic examination
- Imaging studies (CT and MRI) may show abnormalities when the disease manifests
Note: The diagnostic tests listed above are based on general information about Griscelli syndrome, but specific tests for GS type 3 may not be well-established. Consultation with a medical professional is recommended for accurate diagnosis and treatment.
References:
[1] BJ Shah · 2016 [2] [3] by I Gupta · 2022 [4] Jan 13, 2020
Additional Diagnostic Tests
- Clinical signs and light microscopic examination
- Imaging studies (CT and MRI) may show abnormalities when the disease manifests
Treatment
Treatment Options for Griscelli Syndrome Type 3
Griscelli syndrome type 3 (GS type 3) is a rare autosomal recessive disorder that results in hypopigmentation of hair and skin. While there is no specific management for GS type 3, treatment options are available to manage symptoms and improve quality of life.
- Stem Cell Transplantation: Although not specifically mentioned in the context provided, stem cell transplantation has been successfully used to treat Griscelli syndrome in general (see [6]). This treatment option may be considered on a case-by-case basis for GS type 3 patients.
- High-Dose Systemic Methylprednisolone and Etoposide: A combination of high-dose systemic methylprednisolone and etoposide has resulted in the induction of remission in some cases (see [2]). This treatment regimen may be considered for GS type 3 patients, although its effectiveness is not well established.
- Dexamethasone, Etoposide, and Cyclosporine: A study published in 2002 reported a child with Griscelli syndrome who was treated with dexamethasone, etoposide, and cyclosporine (see [10]). This treatment regimen resulted in an immediate response and stable disease. However, its effectiveness for GS type 3 patients is unknown.
- Lacosamide and Levetiracetam: In a case report published in 2021, lacosamide and levetiracetam were added to the treatment regimen of a patient with Griscelli syndrome (see [5]). This resulted in a decrease in seizure frequency. However, this treatment is not specifically mentioned for GS type 3 patients.
Consultation with a Healthcare Professional
It is essential to consult with a healthcare professional for medical advice and treatment specific to each individual's needs. They can provide personalized guidance on the most effective treatment options available (see [8]).
References: [1] Not applicable [2] Jan 13, 2020 — Other regimens that have resulted in the induction of remission are the combination of high-dose systemic methylprednisolone and etoposide and ... [5] by JF Ortiz · 2021 · Cited by 3 — Lacosamide and levetiracetam were added to the treatment regimen, which decreased the seizures' frequency from 10 per day to five per day. The ... [6] What is the treatment for Griscelli syndrome? Griscelli syndrome has been successfully treated by stem cell transplantation. Information ... [8] Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. A Griscelli syndrome characterized by isolated ... [10] by M Aricò · 2002 · Cited by 53 — The child was treated with dexamethasone, etoposide and cyclosporine, according to the HLH–94 study, with immediate response and stable disease ...
Recommended Medications
- Stem Cell Transplantation
- High-Dose Systemic Methylprednisolone and Etoposide
- Dexamethasone, Etoposide, and Cyclosporine
- Lacosamide and Levetiracetam
💊 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 3
Griscelli syndrome type 3 (GS type 3) is a rare genetic disorder characterized by partial albinism, pigment dilution, and other systemic features. When considering the differential diagnosis for GS type 3, several conditions should be taken into account.
- Chediak-Higashi Syndrome: This condition presents with similar features to GS type 3, including partial albinism and recurrent infections [1]. However, differentiation from GS type 3 can be made by pathognomonic light and electron microscopic features [9].
- Congenital or Acquired Hypopigmentation Conditions: Differential diagnosis includes conditions with hypopigmentation, which can be congenital or acquired [2].
- Other Rare Genetic Disorders: Other rare genetic disorders may also present with similar features to GS type 3. A thorough evaluation and diagnostic workup are necessary to rule out these conditions.
Key Features of GS Type 3
GS type 3 is characterized by the following key features:
- Partial albinism
- Pigment dilution
- Generalized lymphadenopathy (swollen lymph nodes)
- Enlargement of the liver and spleen
- Hepatitis (liver inflammation)
- Eye defects
Genetic Cause of GS Type 3
GS type 3 is caused by mutations in the MLPH gene, which encodes melanophilin [5]. This protein complex forms a protein complex with Rab 27a and myosin Va, participating in melanosome transport and pigment distribution.
References:
[1] BJ Shah · 2016 · Cited by 16 — A very close differential diagnosis of GS is Chediak–Higashi syndrome, which also presents with partial albinism and recurrent infections. [2] Jan 13, 2020 — Differential diagnosis includes conditions with hypopigmentation; these can be congenital or acquired conditions. [5] GS type 3 is due to mutations in the MLPH gene, a gene encoding melanophilin, which forms a protein complex with Rab 27a and myosin Va, and participates in ... [6] Sep 1, 2013 — Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. [7] Type 3 Griscelli syndrome · Generalised lymphadenopathy (swollen lymph nodes) · Enlargement of the liver and spleen · Hepatitis (liver inflammation) · Eye defects ... [9] Differential Diagnosis. Differentiation from Chediak–Higashi syndrome can be made by pathognomonic light and electron microscopic features. Griscelli syndrome ...
Additional Differential Diagnoses
- Other Rare Genetic Disorders
- Congenital or Acquired Hypopigmentation Conditions
- Chediak-Higashi syndrome
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