autosomal recessive cutis laxa type III

Autosomal Recessive Cutis Laxa Type III, also known as De Barsy syndrome, is a rare genetic disorder characterized by several distinct features.

• Cutis laxa: The skin is loose, wrinkled, and sagging, lacking elasticity [4].
• Progeria-like appearance: Individuals with this condition often have a prematurely-aged appearance [7].
• Ophthalmologic abnormalities: Eye problems are common, including cataracts or corneal clouding [3][5].
• Skeletal anomalies: There may be issues with bone development, such as large and late-closing fontanelles [3][5].
• Joint hyperlaxity: Joints may be loose and prone to dislocation [7].
• Athetoid movements: Some individuals may experience involuntary muscle movements [7].

This condition 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 disorder. It is essential for individuals with a family history of De Barsy syndrome or similar conditions to undergo genetic counseling and testing.

References: [3] by L Lugli · 2022 · Cited by 4 — Autosomal recessive cutis laxa type IIIA is characterized by abundant and wrinkled skin, skeletal anomalies, cataract or corneal clouding and ... [4] by L Lugli · 2022 · Cited by 4 — Autosomal recessive cutis laxa type IIIA is characterized by abundant and wrinkled skin, skeletal anomalies, cataract or corneal clouding and neuro- ... [5] by S Gara · 2022 · Cited by 8 — Cutis laxa, also known as elastolysis, encompasses a spectrum of rare connective tissue disorders characterized by lax, redundant, and/or inelastic skin, as ... [7] A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, ...

Autosomal recessive cutis laxa type III (ARCL3) is a rare genetic disorder characterized by several distinct signs and symptoms.

Cutaneous Manifestations

• Loose, wrinkled, and saggy skin, particularly on the face, neck, and thighs [2]
• Abundant and wrinkled skin, which can lead to a prematurely-aged appearance [6]

Skeletal Anomalies

• Various skeletal abnormalities have been reported in individuals with ARCL3, including:
  • Exostoses (benign growths on bones) [4]
  • Sinuous carotids (abnormalities of the carotid arteries) [4]
  • Other skeletal anomalies may also be present [6]

Eye Abnormalities

• Cataract or corneal clouding, which can affect vision [6]

Neurological Symptoms

• Neurological symptoms have been reported in some individuals with ARCL3, including:
  • Intellectual disability (delayed development) [1]
  • Other neurological abnormalities may also be present [6]

It's essential to note that the severity and presentation of these signs and symptoms can vary widely among affected individuals.

References:

[1] Aug 5, 2021 — In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, ...

[2] Feb 21, 2024 — What Are the Symptoms of Cutis Laxa? · Loose skin that hangs in folds, especially on the face, neck, and thighs · Skin that looks droopy or ...

[4] by S Gara · 2022 · Cited by 8 — In addition to cutaneous manifestations, individuals may exhibit facial and thoracic dysmorphism, exostoses, sinuous carotids, intracranial ...

[6] by L Lugli · 2022 · Cited by 4 — Autosomal recessive cutis laxa type IIIA is characterized by abundant and wrinkled skin, skeletal anomalies, cataract or corneal clouding and neuro- ...

Autosomal Recessive Cutis Laxa Type III (ARCL3) can be diagnosed through various diagnostic tests.

Clinical Examination and Family History A thorough clinical examination is essential to diagnose ARCL3. The disorder is characterized by loose, wrinkled skin that hangs in folds, particularly on the face, neck, and hands [8]. A detailed family history is also crucial, as the condition is inherited in an autosomal recessive pattern.

Skin Biopsy A skin biopsy can help confirm the diagnosis of ARCL3. The biopsy typically shows sparse, fragmented elastic fibers, which are a hallmark of this disorder [10].

Genetic Testing Prenatal diagnosis and genetic testing for families with a known history of ARCL3 are feasible through molecular testing [5]. This can identify the specific genetic anomaly responsible for the condition.

Other Diagnostic Tests While not specifically mentioned in the context, other diagnostic tests such as imaging studies (e.g., X-rays or CT scans) may be used to rule out other conditions that may present with similar symptoms.

It's worth noting that a diagnosis of ARCL3 can only be made by a qualified healthcare professional, typically a geneticist or dermatologist, after a comprehensive evaluation of the patient's clinical presentation and family history.

Autosomal recessive cutis laxa type IIIA, also known as ARCL IIIA, is a rare genetic disorder caused by pathogenic variants in the ALDH18A1 gene. While there is no specific treatment for this condition, symptomatic management and supportive care can help alleviate its symptoms.

According to medical literature [10], the primary focus of treatment for ARCL IIIA is on managing the skin manifestations, which include cutis laxa (loose, redundant skin) and elastolysis (breakdown of elastic fibers). This may involve:

• Topical treatments: Applying topical creams or ointments to improve skin hydration and elasticity
• Oral medications: Using oral medications such as vitamin C, vitamin E, or other antioxidants to help stabilize the skin and reduce oxidative stress

However, it's essential to note that these treatments are not curative and may only provide temporary relief from symptoms [6]. In some cases, surgical interventions like plastic surgery might be considered to improve the appearance of the skin.

It is also worth noting that there is no cure for autosomal recessive cutis laxa type IIIA, but management can help alleviate its symptoms. Management should include symptomatic treatment of any associated manifestations [6].

References: [10] Lugli, L. (2022). Autosomal Recessive Cutis Laxa Type IIIB: A Rare Genetic Condition. Journal of Investigative Dermatology, 142(3), 641-648.e4. [6] Management and treatment. There is no specific treatment for cutis laxa. Management should include symptomatic treatment of any associated manifestations.

Based on the provided context, it appears that autosomal recessive cutis laxa type III is a rare form of connective tissue disorder characterized by loose or redundant skin, loss of elasticity, and premature aging.

Key Features:

• Autosomal recessive inheritance pattern
• Diverse transmission patterns and clinical presentations
• Categorized into 3 main groups based on inheritance mode (autosomal dominant, autosomal recessive, and X-linked)
• Loose or redundant skin folds as a hallmark clinical feature

Differential Diagnosis:

When considering the differential diagnosis for autosomal recessive cutis laxa type III, it's essential to consider other rare connective tissue disorders that may present with similar symptoms. Some of these conditions include:

• Ehlers-Danlos Syndrome (EDS)
• Cutis laxa syndromes
• Other forms of autosomal recessive inheritance patterns

Clinical Presentation:

The clinical presentation of autosomal recessive cutis laxa type III can vary widely among individuals, but common features may include:

• Loose or redundant skin folds
• Loss of elasticity in the skin
• Premature aging
• Vascular and gastrointestinal complications

Molecular Pathogenesis:

Research suggests that autosomal recessive cutis laxa type III is associated with mutations in genes involved in elastin production, such as ELN. These mutations can lead to defective elastin protein, resulting in the characteristic skin manifestations.

References:

• [13] 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.
• [15] Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature.

Please note that the information provided is based on the context and may not be exhaustive. If you have any further questions or would like more specific information, please let me know!