autosomal recessive cutis laxa type IID

Autosomal Recessive Cutis Laxa Type II D (ARCL2D) is a rare genetic disorder that affects the connective tissue, leading to loose and wrinkled skin. This condition is characterized by:

• Generalized cutis laxa: The skin lacks elastic recoil, giving it a prematurely aged appearance.
• Cardiovascular involvement: ARCL2D can lead to cardiovascular anomalies, such as vascular malformations and aneurysms.
• Neurological involvement: Individuals with this condition may experience developmental delays, intellectual disability, and neurological abnormalities.

ARCL2D is caused by mutations in the ATP6V0A2 gene, which plays a crucial role in maintaining the structure and function of connective tissue. This disorder is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to develop the condition.

The symptoms of ARCL2D can vary in severity and may include:

• Loose and wrinkled skin
• Cardiovascular anomalies (e.g., vascular malformations, aneurysms)
• Neurological abnormalities (e.g., developmental delays, intellectual disability)
• Joint laxity
• Musculoskeletal weakness

Early diagnosis and management of ARCL2D are essential to prevent complications and improve quality of life. However, the prognosis for individuals with this condition is generally poor due to the severity of the symptoms and the limited availability of effective treatments.

References:

[12] ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, [13] Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. Explore symptoms, inheritance, genetics of this condition. [14] DO ID: DOID:0070129; Description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that [15] Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical cutis laxa.

Autosomal recessive cutis laxa type IID (ARCL2D) is a rare genetic disorder characterized by several distinct signs and symptoms.

Generalized Skin Wrinkling: One of the most notable features of ARCL2D is generalized skin wrinkling, which can be present at birth or develop later in life. This is due to the abnormal structure and function of elastic fibers in the skin (8).

Sparse Subcutaneous Fat: Individuals with ARCL2D often have sparse subcutaneous fat, which contributes to the characteristic wrinkled appearance of their skin.

Facial Dysmorphism: People with ARCL2D may exhibit facial dysmorphism, including features such as down-slanting palpebral fissures, a broad flat nasal bridge, and short nose with anteverted nostrils (5).

Other Systemic Manifestations: In addition to the skin and facial abnormalities, individuals with ARCL2D can experience severe systemic manifestations, including:

• Lung atelectesias and emphysema
• Vascular anomalies
• Gastrointestinal and genitourinary tract diverticuli

These systemic manifestations are a result of the generalized connective tissue disorder associated with ARCL2D (6).

Developmental Delays: Some individuals with ARCL2D may experience developmental delays, intellectual disability, seizures, problems with movement, or eye or bone abnormalities (10).

It's essential to note that each individual with ARCL2D may exhibit a unique combination of these signs and symptoms.

References:

• [3] - Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic facial features.
• [5] - Patients have a characteristic facial appearance, including down-slanting palpebral fissures, a broad flat nasal bridge, and short nose with anteverted nostrils.
• [6] - A generalized connective tissue disorder characterized by the association of wrinkled, redundant, and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
• [8] - Skin biopsy demonstrated abnormal, broken, shortened, and fuzzy elastic fiber structure with a significantly decreased amount of elastin by histology.
• [10] - In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities.

Autosomal Recessive Cutis Laxa Type IID (ARCL2D) is a disorder characterized by generalized skin wrinkling, sparse subcutaneous fat, and dysmorphic progeroid features [5]. The diagnosis of ARCL2D can be challenging due to its variable presentation.

Diagnostic Tests:

• A 10-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of cutis laxa, including ARCL2D [3].
• Genetic testing, specifically sequencing of the ATP6V0A2 gene, can confirm the diagnosis of ARCL2D by identifying biallelic pathogenic variants in this gene [1].

Clinical Evaluation:

• Diagnosis is made on the basis of physical and developmental examination, skeletal surveys, imaging studies, histological analysis of skin biopsies (decreased elastin fibers), and genetic testing [4].
• A comprehensive clinical evaluation by a multidisciplinary team of healthcare professionals, including dermatologists, geneticists, and other specialists, is essential for accurate diagnosis.

References:

[1] The presence of suggestive findings and biallelic pathogenic variants in ATP6V0A2 establishes the diagnosis of ARCL2D [1]. [3] A 10-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of cutis laxa, including ARCL2D [3]. [4] Diagnosis is made on the basis of physical and developmental examination, skeletal surveys, imaging studies, histological analysis of skin biopsies (decreased elastin fibers), and genetic testing [4]. [5] Autosomal Recessive Cutis Laxa type IID (ARCL2D) is a disorder characterized by generalized skin wrinkling, sparse subcutaneous fat, and dysmorphic progeroid features [5].

Based on the provided context, it appears that there is limited information available on the specific treatment for autosomal recessive cutis laxa type IID.

However, I can provide some general information on the treatment of cutis laxa. According to search result [3], Cutis Laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. While there may not be specific information available on the treatment for autosomal recessive cutis laxa type IID, it's worth noting that treatment for cutis laxa often involves addressing the underlying cause of the condition.

In some cases, treatment may involve medications to manage symptoms such as decreased bone density and pulmonary emphysema. For example, search result [10] mentions that patients with autosomal recessive cutis laxa may experience decreased bone density, and treatment in these patients may include medications to address this issue.

It's also worth noting that the provided context mentions that Cutis Laxa is a rare condition, and as such, there may be limited information available on its specific treatment. If you're looking for more information on drug treatment for autosomal recessive cutis laxa type IID, I would recommend consulting with a qualified specialist or healthcare professional.

Here are some general points to consider:

• Treatment for cutis laxa often involves addressing the underlying cause of the condition.
• Medications may be used to manage symptoms such as decreased bone density and pulmonary emphysema.
• There may be limited information available on the specific treatment for autosomal recessive cutis laxa type IID.

References: [3] Integrated disease information for Cutis Laxa including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data ... [10] by PN Solanki · 2020 — o FBLN5-Related Cutis Laxa (Autosomal Recessive Cutis Laxa Type 1A, ... Decreased bone density and treatment in patients with autosomal recessive cutis laxa.

Autosomal recessive cutis laxa (ARCL) type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and other systemic features. When considering the differential diagnosis for ARCL type II, it is essential to include other forms of cutis laxa, such as:

• Autosomal dominant cutis laxa (ADCL)
• X-linked cutis laxa
• Cutis laxa associated with other genetic conditions, such as:
  • PYCR1 mutations (cutis laxa type IIIA, de Barsy syndrome A)
  • ATP6V0A2-related cutis laxa

These forms of cutis laxa can present with similar clinical features to ARCL type II, including skin laxity, growth abnormalities, and developmental delays. Therefore, a comprehensive differential diagnosis for ARCL type II should consider these related conditions.

In addition to these genetic conditions, other systemic disorders that may be considered in the differential diagnosis of ARCL type II include:

• Congenital muscular dystrophy
• Myotonic dystrophy
• Rett syndrome

A thorough evaluation and diagnostic workup are necessary to distinguish between these conditions and accurately diagnose ARCL type II.

References: [4] [5]