autosomal recessive cutis laxa type IC

Autosomal Recessive Cutis Laxa Type IC (ARCL1C) is a rare genetic disorder characterized by loose and wrinkled skin, giving a prematurely aged appearance [4]. It affects the face, neck, and other areas of the body, and can be accompanied by various systemic manifestations.

Some common features of ARCL1C include:

• Generalized cutis laxa: Loose and wrinkled skin that gives a sagging appearance
• Premature aging: The skin appears older than the individual's actual age
• Facial dysmorphism: A typical facial appearance, often described as progeroid (similar to premature aging)
• Sparse subcutaneous fat: Reduced amount of fat under the skin
• Musculoskeletal involvement: Weakness and wasting of muscles, particularly in the limbs
• Pulmonary, gastrointestinal, and urinary anomalies: Various complications affecting these systems

It's worth noting that ARCL1C is a severe form of cutis laxa, with systemic manifestations that can impact various aspects of an individual's health [5].

Autosomal recessive cutis laxa type IC (ARCL2C) is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the key features include:

• Generalized skin wrinkling: People with ARCL2C typically have excessive congenital skin wrinkling, which can be quite pronounced.
• Impaired pulmonary function: Individuals with this condition often experience impaired lung function, which can lead to breathing difficulties.
• Gastrointestinal problems: Gastrointestinal issues are common in people with ARCL2C, including problems with digestion and bowel movements.
• Genitourinary abnormalities: Some individuals may also experience genitourinary abnormalities, such as kidney or bladder problems.
• Delayed development and intellectual disability: In some cases, people with ARCL2C may experience delayed development and intellectual disability [1][3].
• Abnormal facial appearance: The face may appear prematurely aged, with prominent sagging cheeks and ears [6].

It's worth noting that the severity and specific symptoms of ARCL2C can vary widely from person to person. However, these features are commonly associated with this condition.

References: [1] - Generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, and other systems [2] [3] - In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, ... [3] [6] - Although the face may be relatively spared, it usually shows prominent, sagging cheeks and ears with a prematurely aged appearance. In one case, the facial appearance was described as "dysmorphic progeroid" [6].

Autosomal recessive cutis laxa type IC (ARCL2C) is a rare genetic disorder characterized by loose and wrinkled skin, giving a prematurely aged appearance [6]. Diagnostic tests for ARCL2C are crucial to confirm the diagnosis and rule out other conditions.

Genetic Analysis Genetic analysis is recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis [5]. This involves testing for mutations in the FBLN5 and EFEMP2 genes, which are associated with ARCL2C [1].

Molecular Genetic Testing Molecular genetic testing is also available on a research basis only, which may confirm the diagnosis in carriers of FBLN5 and EFEMP2 mutations [1]. This test can help identify individuals who are heterozygous for an LTBP4 pathogenic variant.

Other Diagnostic Tests While not specifically mentioned as diagnostic tests for ARCL2C, other conditions with similar symptoms may require additional testing. These include:

• Abnormality of the genitourinary system [7][9]
• Abnormality of head or neck [7][9]
• Abnormality of the eye [7]

It's essential to consult a medical professional for accurate diagnosis and treatment.

References: [1] - Context result 1 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [9] - Context result 9

Based on the available information, it appears that there are no effective therapeutic strategies available for autosomal recessive cutis laxa type IC (ARCL1). However, symptomatic treatment of pulmonary emphysema is recommended as part of a multidisciplinary care approach.

• Pulmonary emphysema is a common feature of ARCL1, and its management involves supportive care measures such as oxygen therapy, bronchodilators, and physical therapy to improve lung function [1].
• There are no specific medications or treatments that have been shown to be effective in treating the underlying condition of ARCL1 [2].
• Management of ARCL1 is largely focused on addressing the symptoms and complications associated with the disorder, such as pulmonary emphysema, rather than targeting the underlying genetic defect [3].

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can provide guidance on managing the condition and its associated symptoms.

References: [1] - #4 (Aug 5, 2021) - Cutis laxa is a disorder of connective tissue... [2] - #5 (Feb 11, 2016) - LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema... [3] - #8 (Oct 14, 2024) - A rare, genetic, dermis elastic tissue disorder...

Autosomal recessive cutis laxa type IC is a rare genetic disorder characterized by generalized cutis laxa, which is a condition where the skin becomes loose and wrinkled due to a defect in the elastin gene. The differential diagnosis for this condition should include other forms of autosomal recessive cutis laxa (ARCL) as well as related syndromes.

Primary Clinical Differential Diagnoses:

• Autosomal recessive cutis laxa type 1A (ARCL1A)
• Other forms of ARCL, such as type II and type III
• Related syndromes, including gerodermia osteodysplastica

These conditions can present with similar clinical features to autosomal recessive cutis laxa type IC, making differential diagnosis crucial for accurate diagnosis and treatment.

Key Features to Consider:

• Generalized cutis laxa
• Loose and wrinkled skin
• Abnormal growth and developmental delay (in some cases)
• Pulmonary and/or cardiovascular involvement (in severe cases)

When considering the differential diagnosis for autosomal recessive cutis laxa type IC, it is essential to take into account the severity of symptoms, the presence of other clinical features, and the results of genetic testing.

Genetic Causes:

Autosomal recessive cutis laxa can be caused by variants in several genes, including FBLN5, EFEMP2, LTBP4, ATP6V0A2, PYCR1, or ALDH18A1. Genetic testing is crucial for accurate diagnosis and to rule out other forms of ARCL.

References:

• [3] Autosomal recessive cutis laxa tends to be more severe than the autosomal dominant forms.
• [4] Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa, which is a key feature for differential diagnosis.
• [6] Autosomal recessive cutis laxa syndromes are subdivided into 2 groups, with Type 1 characterized by severe pulmonary and/or cardiovascular involvement.
• [9] Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and other features.