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autosomal recessive cutis laxa type IB
ICD-10 Codes
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Description
Autosomal Recessive Cutis Laxa Type IB (ARCL1B) is a rare genetic disorder characterized by severe systemic connective tissue abnormalities.
- The condition affects the skin, muscles, joints, and other organs, leading to loose, wrinkled, and sagging skin with decreased resilience and elasticity [6].
- It is also associated with emphysema, which is a type of lung disease that makes it difficult to breathe [7].
- ARCL1B is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [8][9].
In individuals with ARCL1B, the elastic fibers in the skin and other tissues are disturbed, leading to severe systemic connective tissue abnormalities. This can result in a range of symptoms, including:
- Loose, wrinkled, and sagging skin
- Decreased resilience and elasticity of the skin
- Emphysema and other respiratory problems
- Other systemic complications, such as cardiovascular disease and gastrointestinal issues
It's worth noting that ARCL1B is a rare condition, and more research is needed to fully understand its causes and effects. However, early diagnosis and treatment can help manage symptoms and improve quality of life for individuals with this condition.
References: [6] - Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, redundant, and lacking elasticity (inelastic). [7] - Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, ... [8] - Alt IDs: OMIM:614437, ICD10CM:Q82.8 ; Definition: An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe ... [9] - Definition. An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue ...
Additional Characteristics
- Loose, wrinkled, and sagging skin
- Decreased resilience and elasticity of the skin
- Emphysema and other respiratory problems
- Other systemic complications
Signs and Symptoms
Autosomal recessive cutis laxa type IB (ARCL1B) is a rare genetic disorder characterized by severe systemic connective tissue abnormalities, in addition to the skin symptoms.
Skin Symptoms:
- Loose, wrinkled, and sagging skin with decreased elasticity
- Premature aged appearance
Systemic Manifestations:
- Emphysema (lung disease)
- Heart problems
- Blood vessel abnormalities
- Hernias
- Delayed development
- Intellectual disability
These symptoms can vary in severity and may be accompanied by other related conditions. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.
References: [3] EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement. [7] Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, ... [8] Cutis laxa primarily affects the skin but can also lead to heart problems, blood vessel abnormalities, hernias, and lung disease. Other related conditions ...
Additional Symptoms
- Intellectual disability
- Delayed development
- Heart problems
- Blood vessel abnormalities
- Hernias
- Loose, wrinkled, and sagging skin with decreased elasticity
- Premature aged appearance
- Emphysema (lung disease)
Diagnostic Tests
Based on the provided context, it appears that comprehensive genomic testing is a crucial step in diagnosing Autosomal Recessive Cutis Laxa type IB (ARCL1B). Exome sequencing is most commonly used for this purpose [2].
The diagnostic tests for ARCL1B may include:
- Comprehensive genomic testing, such as exome sequencing
- Genetic testing to determine the underlying connective tissue disorder
It's worth noting that aortic dilation, inguinal hernias, and pulmonary emphysema are other common findings associated with ARCL1B [7]. However, these symptoms alone may not be sufficient for diagnosis.
In some cases, genetic testing may be used to confirm the presence of autosomal recessive cutis laxa type-Ib as the underlying connective tissue disorder [8].
It's also important to note that Quest Diagnostics Incorporated and its affiliated companies offer CLIA certified laboratories that provide HIPAA covered services, including genetic testing [10]. However, this information is not directly related to the diagnostic tests for ARCL1B.
Additional Diagnostic Tests
- Genetic testing
- Exome sequencing
- Comprehensive genomic testing
Treatment
Based on the provided context, it appears that there is limited information available on the drug treatment for autosomal recessive cutis laxa type IB (ARCL1B). However, I can provide some insights based on the search results.
According to result [10], "No treatment exists to prevent disease progression" in general cases of cutis laxa. However, it mentions that dapsone can be used acutely to control swelling in persons with acquired cutis laxa.
Unfortunately, there is no specific information available in the provided context regarding drug treatments for autosomal recessive cutis laxa type IB (ARCL1B). The search results primarily focus on describing the condition and its characteristics rather than discussing treatment options.
However, it's worth noting that result [7] mentions that "To date no effective treatment is available for cutis laxa." This suggests that there may be a lack of established treatments for this specific type of cutis laxa.
If you're looking for more information on drug treatments for ARCL1B, I would recommend searching for more recent studies or clinical trials. However, based on the provided context, it seems that there is limited information available on this topic.
References: * [10] - No treatment exists to prevent disease progression * [7] - To date no effective treatment is available for cutis laxa
Recommended Medications
- No treatment exists to prevent disease progression
- dapsone can be used acutely to control swelling
- To date no effective treatment is available for cutis laxa
💊 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
Autosomal recessive cutis laxa type 1B (ARCL1B) is a rare genetic disorder characterized by cutis laxa and systemic involvement. When considering the differential diagnosis for ARCL1B, several conditions should be taken into account.
- Loeys-Dietz syndrome (LDS): This is an autosomal dominant condition that shares some clinical features with ARCL1B, such as cutis laxa and arterial tortuosity. However, LDS typically presents with more severe cardiovascular manifestations [8].
- Arterial tortuosity syndrome (ATS): ATS is another genetic disorder that can present with similar vascular abnormalities to ARCL1B. However, ATS tends to have a milder clinical course compared to ARCL1B [8].
It's essential to note that the differential diagnosis for ARCL1B also includes other rare genetic disorders that may present with overlapping clinical features.
In terms of distinguishing ARCL1B from these conditions, it's crucial to consider the specific clinical features and systemic involvement in each case. For instance, individuals with ARCL1B often have more severe cutis laxa and systemic manifestations compared to those with LDS or ATS [2].
A detailed evaluation of the patient's medical history, physical examination, and genetic testing can help differentiate ARCL1B from other conditions.
References: [2] - EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement. [8] - The most important differential diagnoses include Loeys-Dietz syndrome (LDS) and arterial tortuosity syndrome (ATS).
Additional Differential Diagnoses
Additional Information
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- rdf-schema#label
- autosomal recessive cutis laxa type IB
- IAO_0000115
- An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
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