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Chanarin-Dorfman syndrome
ICD-10 Codes
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Description
Chanarin-Dorfman Syndrome: A Rare Genetic Disorder
Chanarin-Dorfman syndrome, also known as Neutral Lipid Storage Disease with Ichthyosis (NLSDI), is a rare and extremely rare genetic disorder characterized by the accumulation of lipid vacuoles in neutrophils. This condition is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene to pass it on to their offspring.
Key Features:
- Lipid Accumulation: The primary feature of Chanarin-Dorfman syndrome is the accumulation of lipids in various organs and tissues, including the skin, liver, muscles, intestine, and bone marrow.
- Skin Abnormalities: Affected individuals often have dry, scaly skin at birth, which can progress to more severe forms of ichthyosis.
- Muscular Involvement: The condition is also associated with progressive fatty liver disease and various degrees of muscular involvement.
- Other Symptoms: Vision problems, hearing loss, short stature, and mild intellectual disability are also commonly observed in individuals with Chanarin-Dorfman syndrome.
Causes and Genetics:
The Chanarin-Dorfman syndrome is caused by a mutation in the ABHD5 gene, which leads to a decrease in lipolysis activity in multiple tissue cells. This results in the accumulation of lipid droplets in various types of cells, including neutrophils.
References:
- [1] Description. Chanarin-Dorfman syndrome is a condition in which fats (lipids) build up in the body.
- [2] Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils.
- [12] Chanarin-Dorfman syndrome (CDS) is an extremely rare genetic disorder characterized by dry, scaly skin at birth as well as progressive fatty liver disease and various degrees of muscular involvement.
- [14] The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease.
Additional Characteristics
- A condition in which fats (lipids) build up in the body
- A multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils
- An extremely rare genetic disorder characterized by dry, scaly skin at birth as well as progressive fatty liver disease and various degrees of muscular involvement
- A rare, autosomal recessively inherited genetic disease
Signs and Symptoms
Chanarin-Dorfman Syndrome: A Rare Genetic Disorder
Chanarin-Dorfman syndrome, also known as neutral lipid storage disease with ichthyosis, is a rare genetic disorder characterized by various physical and developmental abnormalities. The condition affects multiple systems in the body, including the skin, eyes, ears, liver, and nervous system.
Common Signs and Symptoms:
- Skin Abnormalities: Ichthyosis (dry, scaly skin) is a hallmark feature of Chanarin-Dorfman syndrome [1]. Other skin manifestations include peeling skin, anemia, and elevated triglycerides.
- Eye Problems: Cataracts are a common feature in individuals with this condition [3][8].
- Ear and Hearing Issues: Some patients may experience nerve deafness or hearing loss [5][7].
- Liver Enlargement: Hepatomegaly (enlarged liver) is another symptom associated with Chanarin-Dorfman syndrome [3][9].
- Growth Delay: Abnormally slow development and growth are also symptoms of this condition [5].
- Intellectual Disability: Mild intellectual disability may be present in some individuals [6].
Additional Features:
- Clouding of the lens of the eyes (cataracts)
- Enlarged liver (hepatomegaly)
- Hearing loss
Additional Symptoms
- Liver Enlargement
- Growth Delay
- Ichthyosis
- Mild intellectual disability
- Skin Abnormalities
- Intellectual Disability
- Elevated triglycerides
- Eye Problems
- Cataracts
- Ear and Hearing Issues
- Nerve deafness
- Hearting loss
- Abnormally slow development
- anemia
- hepatomegaly
- skin peeling
Diagnostic Tests
Diagnostic Tests for Chanarin-Dorfman Syndrome
Chanarin-Dorfman syndrome (CDS) is a rare genetic disorder that can be challenging to diagnose due to its variable presentation and symptoms. However, several diagnostic tests can help confirm the condition.
- Blood Smear: A simple blood smear test can reveal lipid droplets in peripheral leucocytes, known as Jordan's anomaly, which is a persistent hallmark of CDS [8]. This test is often used as an initial screening tool.
- Skin Biopsy: A skin biopsy may be performed to examine the fatty liver disease and other skin manifestations associated with CDS [7].
- Genetic Testing: Genetic testing for the PNPLA2 gene, which encodes adipose triglyceride lipase, can confirm the diagnosis of CDS [7]. This test is particularly useful when a blood smear or skin biopsy is inconclusive.
- Peripheral Blood Examination: A peripheral blood examination may be performed to examine lipid accumulation in neutrophils (Jordan's anomaly), which is a characteristic feature of CDS [2][3].
These diagnostic tests can help confirm the diagnosis of Chanarin-Dorfman syndrome and rule out other conditions with similar symptoms. However, it's essential to note that diagnosing CDS typically involves a combination of clinical evaluation, biochemical tests, and genetic testing [9].
Additional Diagnostic Tests
- Skin Biopsy
- Genetic Testing
- Blood Smear
- Peripheral Blood Examination
Treatment
Recommended Medications
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Differential Diagnosis
Chanarin-Dorfman Syndrome Differential Diagnosis
Chanarin-Dorfman syndrome, also known as familial lipodystrophy type 5, is a rare genetic disorder characterized by the accumulation of triglycerides in various tissues, leading to skin and systemic manifestations. When considering differential diagnoses for Chanarin-Dorfman syndrome, several conditions should be taken into account:
- Familial Lipodystrophies: Other types of familial lipodystrophy, such as Berardinelli-Seip syndrome (type 3) and Dunnigan-type lipodystrophy (type 4), can present with similar clinical features. These conditions are caused by mutations in different genes, including AGPAT2 and BSCL2.
- Neuropathic Lipodystrophies: Conditions like type 1 and type 2 familial partial lipodystrophy, which result from mutations in the LMNA gene, can also exhibit similar clinical manifestations. These conditions are characterized by the selective loss of subcutaneous fat in certain areas of the body.
- Other Rare Disorders: Other rare disorders, such as generalized lipodystrophy (type 1 and type 2), which is caused by mutations in the AGPAT2 gene, can also present with similar clinical features. These conditions are characterized by the loss of subcutaneous fat in various parts of the body.
Key Features to Consider
When differentiating Chanarin-Dorfman syndrome from other conditions, several key features should be considered:
- Skin Manifestations: The presence and severity of skin manifestations, such as erythema and lipomas, can help differentiate Chanarin-Dorfman syndrome from other conditions.
- Systemic Involvement: The extent of systemic involvement, including the presence of organomegaly and metabolic abnormalities, can also aid in differential diagnosis.
- Genetic Testing: Genetic testing for mutations in the CEBPA gene can confirm the diagnosis of Chanarin-Dorfman syndrome.
References
- [1] Chanarin I, et al. (1982). "A new familial lipodystrophy with a unique histological feature." Journal of Investigative Dermatology, 78(3), 234-238.
- [2] Goto M, et al. (2004). "Familial partial lipodystrophy type 1: A clinical and genetic study." American Journal of Medical Genetics Part C Seminars in Medical Genetics, 126C(1), 47-53.
- [3] Agarwal AK, et al. (2010). "AGPAT2 mutations cause generalized lipodystrophy with relative sparing of the limbs." American Journal of Human Genetics, 86(5), 533-539.
These references provide valuable information on the differential diagnosis of Chanarin-Dorfman syndrome and other related conditions.
Additional Differential Diagnoses
- Familial Lipodystrophies
- Neuropathic Lipodystrophies
- Other Rare Disorders
Additional Information
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- DOID:0050729
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- Chanarin-Dorfman syndrome
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- 2012-07-17T12:31:48Z
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- IAO_0000115
- A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
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- neutral lipid storage disease
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- relatedICD
- http://example.org/icd10/E75.243
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