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autosomal recessive cutis laxa type IIC
ICD-10 Codes
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Description
Autosomal recessive cutis laxa type IIC (ARCL2C) is a rare genetic disorder characterized by several distinct features.
Generalized skin wrinkling: One of the hallmark symptoms of ARCL2C is generalized skin wrinkling, which can be pronounced in various parts of the body, including the arms and legs [1][5].
Sparse subcutaneous fat: Affected individuals often exhibit sparse subcutaneous fat, which contributes to the characteristic skin wrinkling appearance [1][10].
Dysmorphic progeroid facial features: Patients with ARCL2C typically display dysmorphic progeroid facial features, including a distinctive facial appearance that may include downslanting palpebral fissures [2][4].
Severe hypotonia: Most patients with ARCL2C experience severe hypotonia, which can lead to various developmental and growth-related issues [1][10].
Cardiovascular involvement: Cardiovascular problems are also a common feature of ARCL2C, highlighting the systemic nature of this disorder [1][5].
These symptoms often manifest in infancy or early childhood, and their severity can vary significantly among affected individuals.
References:
[1] - Description of autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).
[2] - Autosomal recessive cutis laxa type IIC (ARCL2C) is a disorder characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features, severe hypotonia, and cardiovascular involvement.
[3] - This disorder is also known as autosomal recessive cutis laxa 2B (ARCL2B). The skin symptoms of cutis laxa are more pronounced in the arms and legs. Affected individuals may experience growth delays, developmental delays, failure to thrive, intellectual disability, joint laxity, and cardiovascular problems.
[4] - A number sign (#) is used with this entry because of evidence that autosomal recessive cutis laxa type IC (ARCL1C) is caused by homozygous or compound heterozygous mutation in the LTBP4 gene (604710) on chromosome 19q13. Description. Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a characteristic appearance.
[5] - Cutis laxa, also known as elastolysis, encompasses a spectrum of rare connective tissue disorders characterized by loose or redundant skin, along with loss of elasticity and premature aging. Heritable forms of cutis laxa exhibit diverse transmission patterns and clinical presentations and are categorized into 3 main groups based on inheritance mode—autosomal dominant, autosomal recessive, and X-linked.
[10] - Description of autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).
Additional Characteristics
- Severe hypotonia
- Sparse subcutaneous fat
- Generalized skin wrinkling
- Dysmorphic progeroid facial features
- Cardiovascular involvement
Signs and Symptoms
Autosomal recessive cutis laxa type IIC (ARCL2C) is a rare genetic disorder characterized by several distinct signs and symptoms.
Generalized skin wrinkling: One of the hallmark features of ARCL2C is generalized skin wrinkling, which can be severe and affect all areas of the body [1][3][4]. This is due to the inelastic nature of the skin, making it loose and sagging.
Sparse subcutaneous fat: Individuals with ARCL2C often have sparse subcutaneous fat, which contributes to their characteristic facial appearance and overall physical appearance [1][4].
Dysmorphic progeroid facial features: The face is typically characterized by down-slanting palpebral fissures, a broad flat nasal bridge, short nose with anteverted nostrils, and large ears [6]. This facial appearance is often described as progeroid, meaning it resembles premature aging.
Other physical characteristics: Patients may also exhibit other physical features, such as midfacial hypoplasia (underdevelopment of the middle part of the face), a short neck, and a relatively small head size compared to body size [8].
Associated health issues: While ARCL2C primarily affects the skin, it can also lead to various associated health problems, including heart issues, blood vessel abnormalities, hernias, and lung disease [9].
Additional Symptoms
- Short neck
- Lung disease
- Heart issues
- Sparse subcutaneous fat
- Generalized skin wrinkling
- Dysmorphic progeroid facial features
- Midfacial hypoplasia
- Relatively small head size compared to body size
- Blood vessel abnormalities
- Hernias
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for Autosomal Recessive Cutis Laxa Type IIC (ARCL2C) are not explicitly mentioned. However, I can provide some information related to the condition.
- Molecular testing: According to search result [5], prenatal diagnosis is feasible by molecular testing for families in which the genetic anomaly has been identified.
- Genetic counseling: Correct diagnosis of ARCL2C requires genetic counseling, as stated in search result [5].
- Glycosylation studies: Search result [4] mentions that glycosylation studies could not be done to confirm the diagnosis, indicating a potential limitation in diagnostic testing.
It's essential to note that these points are based on the provided context and might not be an exhaustive list of diagnostic tests for ARCL2C. If you're looking for more information or specific diagnostic procedures, I recommend consulting a medical professional or searching for additional resources.
References: [4] - Prenatal diagnosis is feasible by molecular testing for families in which the genetic anomaly has been identified. [5] - Genetic counseling. Correct diagnosis of the condition requires genetic counseling.
Additional Diagnostic Tests
- Molecular testing
- Genetic counseling
- Glycosylation studies
Treatment
Based on the provided context, it appears that there are limited treatment options available for autosomal recessive cutis laxa type IIC (ARCL2C). However, some information suggests that dapsone may be used in cases associated with an underlying cutaneous disorder.
- Dapsone has been used in cases of urticaria or urticarial neutrophilic dermatosis, which are conditions related to the skin [9].
- It is essential to consult with a healthcare professional for medical advice and treatment, as dapsone may not be directly applicable to ARCL2C [7].
It's worth noting that there is limited information available on the specific treatment of autosomal recessive cutis laxa type IIC. Further research or consultation with a specialist would be necessary to determine the most effective course of treatment.
References: [7] The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [9] Jun 25, 2024 — Dapsone has been widely used in cases associated with an underlying cutaneous disorder, such as urticaria or urticarial neutrophilic dermatosis, ...
💊 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 Autosomal Recessive Cutis Laxa Type IIC
Autosomal recessive cutis laxa type IIC (ARCL2C) is a rare genetic disorder characterized by generalized skin wrinkling, sparse subcutaneous fat, and dysmorphic progeroid facial features. When considering the differential diagnosis for ARCL2C, several conditions should be taken into account.
- Loeys-Dietz Syndrome (LDS): This is an autosomal dominant disorder that shares some clinical features with ARCL2C, including skin laxity and vascular abnormalities [6]. However, LDS typically presents with more pronounced cardiovascular and skeletal manifestations.
- Arterial Tortuosity Syndrome (ATS): ATS is another condition that can be distinguished from ARCL2C by its characteristic arterial tortuosity and other
Additional Differential Diagnoses
Additional Information
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- disease_ontology
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- MIM:617402
- oboInOwl#id
- DOID:0070140
- core#notation
- DOID:0070140
- IAO_0000115
- An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
- rdf-schema#label
- autosomal recessive cutis laxa type IIC
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0070141
- relatedICD
- http://example.org/icd10/Q82.8
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_2012
- owl#annotatedSource
- t345355
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