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Griscelli syndrome
ICD-10 Codes
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Description
Griscelli Syndrome: A Rare Inherited Condition
Griscelli syndrome is a rare inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy [12]. This disorder is classified into three types, each with distinct genetic causes and patterns of signs and symptoms.
- Type 1: Associated with primary neurological impairment, including hemiparesis, peripheral facial palsy, spasticity, seizures, and psychomotor retardation [9].
- Type 2: Characterized by immunologic impairment.
- Type 3: Isolated, without any associated immunologic or neurologic manifestations.
The symptoms of Griscelli syndrome include:
- Hypopigmentation of the skin
- Silvery-gray hair
- Large clumps of pigment in hair shafts
- Accumulation of melanosomes in melanocytes
Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, with an accumulation of melanosomes in melanocytes [3]. It should be considered in children with silver hair, eyebrows, and eyelashes, particularly if there are neurological or immune defects [4].
References:
[1] Griscelli syndrome is a rare autosomal recessive disorder (5). [2] Type 1 Griscelli syndrome is associated with primary neurologic deficits that include hemiparesis, peripheral facial palsy, spasticity, seizures, and psychomotor retardation (9). [3] Griscelli syndrome results in pigmentary dilution of the skin and hair, with an accumulation of melanosomes in melanocytes (3). [4] Griscelli syndrome should be considered in children with silver hair, eyebrows, and eyelashes, particularly if there are neurological or immune defects (4).
Additional Characteristics
- Hypopigmentation of the skin
- Silvery-gray hair
- Large clumps of pigment in hair shafts
- Accumulation of melanosomes in melanocytes
Signs and Symptoms
Griscelli syndrome is a rare hereditary disorder characterized by pigmentary dilution of the skin and silver-colored hair. The signs and symptoms of this condition can vary, but they often include:
- Hypopigmentation: A reduction in skin pigmentation, resulting in a silvery-gray sheen on the hair and hypopigmentation of the skin.
- Delayed development: Affected individuals may experience delayed physical and mental development.
- Intellectual disability: Some people with Griscelli syndrome may have intellectual disabilities or learning difficulties.
- Seizures: Seizures are a common symptom of Griscelli syndrome, particularly in type 1.
- Weak muscle tone (hypotonia): Affected individuals may have weak muscles and poor muscle tone.
- Eye and vision abnormalities: People with Griscelli syndrome may experience eye problems, such as cataracts or retinal degeneration.
- Hemophagocytosis: A condition characterized by the excessive destruction of red blood cells.
- Enlarged liver (hepatomegaly): The liver may become enlarged due to the accumulation of abnormal pigment.
- Increased muscle tone (hypertonia): Some people with Griscelli syndrome may experience increased muscle tone, particularly in the limbs.
It's worth noting that the symptoms of Griscelli syndrome can vary widely between individuals and may not be present in all cases. [1][2][3][4][5][6][7][8]
Additional Symptoms
- Seizures
- Intellectual disability
- Enlarged liver (hepatomegaly)
- Weak muscle tone (hypotonia)
- Delayed development
- Hypopigmentation
- Eye and vision abnormalities
- Hemophagocytosis
- Increased muscle tone (hypertonia)
Diagnostic Tests
Diagnosing Griscelli Syndrome
Griscelli syndrome (GS) is a rare genetic disorder characterized by albinism, immunodeficiency, and bleeding tendency. Diagnosing GS can be challenging, but several diagnostic tests can help establish the condition.
- Clinical Signs: The diagnosis of GS can be established by clinical signs such as facial hypopigmentation, greyish eyebrows, and grey hair tufts [2].
- Light Microscopic Examination: Light microscopic examination can also aid in diagnosing GS, showing large clumps of pigment in hair [1].
- Genetic Analysis: The diagnosis of GS is usually established through genetic analysis upon clinical suspicion. This test may be limited in war zones or areas with restricted access to medical facilities [3].
- Chromosomal Analysis: Chromosomal analysis may be performed to look for the specific gene defect associated with GS [4].
- Prenatal Diagnosis: Prenatal diagnosis of GS has been accomplished by examining hair from fetal scalp biopsies performed at 21 weeks' gestation, with a reported accuracy of [6].
Additional Diagnostic Tests
In suspected cases of GS, additional diagnostic tests may be performed to confirm the condition. These include:
- Cutaneous Granulomas: The presence of cutaneous granulomas aids in detection of GS and portends a poor prognosis with systemic involvement [5].
- Laboratory Studies: Laboratory studies such as EBV PCR, CBC with Differential, Liver Function Tests, PT, PTT, Triglyceride, and others may be performed to rule out other conditions or to monitor the progression of GS [8].
References
[1] The diagnosis of the three types of GS can be established by clinical signs and light microscopic examination, evidencing large clumps of pigment in hair...
[2] The physical examination showed facial hypopigmentation, greyish eyebrows, and grey hair tufts (Figure 1).
[3] Aug 14, 2024 — The diagnosis of GS is usually established through genetic analysis upon clinical suspicion.
[4] In suspected Griscelli syndrome, chromosomal analysis may be performed to look for the specific gene defect.
[5] Jan 13, 2020 — The presence of cutaneous granulomas aids in detection of Griscelli syndrome, and it portends a poor prognosis with systemic involvement.
[6] P
Additional Diagnostic Tests
- Genetic Analysis
- Laboratory Studies
- Prenatal Diagnosis
- Clinical Signs
- Light Microscopic Examination
- Chromosomal Analysis
- Cutaneous Granulomas
Treatment
Griscelli syndrome is a rare genetic disorder characterized by hypopigmentation, immunodeficiency, and an increased risk of developing hemophagocytic lymphohistiocytosis (HLH). The treatment for Griscelli syndrome typically involves managing the symptoms and complications associated with the condition.
Immunosuppressive therapy: High-dose methylprednisolone and other immunosuppressive agents are often used to down-regulate the lymphohistiocytic infiltration that occurs in Griscelli syndrome [2]. Cyclosporine is also used in combination with other immunosuppressive and chemotherapeutic agents to manage the condition [3].
Hematopoietic stem cell transplantation (HSCT): HSCT is considered a curative treatment option for patients with Griscelli syndrome, particularly those with type 2, who are at high risk of developing HLH [4]. Early HSCT remains the primary therapy option for preventing GS2-induced HLH [5].
Other treatments: Alemtuzumab has been investigated as a potential treatment for Griscelli syndrome in phase 2 trials [6]. However, further research is needed to confirm its efficacy.
It's essential to note that an early treatment with non-specific immunomodulating drugs, such as steroids, could mask signs and symptoms of the disease, making it crucial to monitor patients closely [7].
References: [1] Not applicable [2] 2. Jan 13, 2020 — Cyclosporine is used with other immunosuppressive and chemotherapeutic agents to down-regulate the lymphohistiocytic infiltration that occurs in ... [3] by A Gurgey · 1994 · Cited by 17 — High-dose methylprednisolone and VP-16 in treatment of Griscelli syndrome with central nervous system involvement. [4] 4. In GS type 2, the hemophagocytic syndrome is often fatal and the only cure is hematopoietic stem cell transplantation (HSCT). [5] by E Cay · 2023 · Cited by 1 — Although further research is needed, regardless of the conditioning regimen
Recommended Medications
- Alemtuzumab
- Hematopoietic stem cell transplantation (HSCT)
- cyclosporin A
- Cyclosporine
- 6alpha-methylprednisolone
- Methylprednisolone
💊 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
Griscelli syndrome (GS) is a rare inherited disorder caused by genetic mutations leading to defective granule-dependent cytotoxic lymphocyte function [7]. When diagnosing GS, it's essential to consider other conditions that may present with similar symptoms. The differential diagnosis for GS includes:
- Chediak-Higashi Syndrome (CHS): This condition is characterized by partial albinism in association with systemic immunological abnormalities leading to hemophagocytic lymphohistiocytosis (HLH) [5]. CHS differs from GS by the presence of abnormal giant cytoplasmic granules in leucocytes [9].
- Elejalde Syndrome (ES): ES is another condition that shares some similarities with Griscelli syndrome. It's essential to consider ES in the differential diagnosis, especially when patients present with hypopigmentation and immunological abnormalities [4], [8].
- Other causes of immunodeficiency/HLH: The differential diagnosis for patients should also include other causes of immunodeficiency/HLH with hypopigmentation such as Chediak-Higashi syndrome, Elejalde syndrome, and others [6].
References:
[1] Context 4 [2] Context 5 [3] Context 9 [4] Context 8 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8 [9] Context 9
Additional Differential Diagnoses
- HLH with hypopigmentation
- N syndrome
- Chediak-Higashi syndrome
- oculocutaneous albinism
- Vici syndrome
- Hermansky-Pudlak syndrome 1
- Hermansky-Pudlak syndrome 5
- Hermansky-Pudlak syndrome 6
- Hermansky-Pudlak syndrome 8
- oculocutaneous albinism type IA
- oculocutaneous albinism type IB
- oculocutaneous albinism type III
- oculocutaneous albinism type IV
- oculocutaneous albinism type V
- oculocutaneous albinism type VII
- ocular albinism with sensorineural deafness
Additional Information
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