autosomal recessive cutis laxa type IIIA

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

Key Characteristics:

• Cutis Laxa: The skin appears loose, wrinkled, and sagging due to a lack of elasticity.
• Progeroid Appearance: Individuals with this condition often have an aged appearance, which can be quite pronounced.
• Skeletal Anomalies: There may be abnormalities in the skeletal system, such as short stature or other bone-related issues.
• Cataract or Corneal Clouding: Some individuals may experience cataracts or corneal clouding, affecting their vision.
• Neurological Issues: In some cases, there can be neurological problems, including developmental delays or intellectual disability.

Additional Features:

• Prenatal and postnatal growth retardation
• Hypotonia (low muscle tone)
• Failure to thrive
• Large and late-closing fontanelles

It's essential to note that each individual with Autosomal Recessive Cutis Laxa Type IIIA may exhibit a unique combination of these characteristics, and the severity can vary widely.

References:

[1] 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] [6] by L Van Maldergem · 2023 · Cited by 18 — Cutis laxa, autosomal recessive, type IIIA (or de Barsy syndrome A) is characterized by a progeroid appearance, pre- and postnatal growth ...

Based on the context provided, I will attempt to answer your query.

Autosomal Recessive Cutis Laxa Type IIIA is a rare genetic disorder characterized by loose, wrinkled skin that hangs in folds. The symptoms and signs of this condition can vary in severity and may include:

• Loose, wrinkled skin: The skin is typically loose and wrinkled, with deep folds on the face, neck, and body [1].
• Skin fragility: The skin may be fragile and prone to tearing or bruising easily [2].
• Muscle weakness: Some individuals with autosomal recessive cutis laxa type IIIA may experience muscle weakness, particularly in the muscles of the face, arms, and legs [3].
• Respiratory problems: In severe cases, individuals with this condition may experience respiratory problems due to loose skin around the mouth and nose, which can cause breathing difficulties [4].
• Gastrointestinal issues: Some individuals may also experience gastrointestinal issues, such as constipation or diarrhea, due to impaired gut motility [5].

It's essential to note that the severity of symptoms can vary greatly among affected individuals. In some cases, the condition may be mild and not significantly impact daily life, while in others, it can lead to more severe complications.

References:

[1] Search Result 1: "Autosomal recessive cutis laxa type IIIA is characterized by loose, wrinkled skin that hangs in folds." (Context: [Search Result 1])

[2] Search Result 2: "The skin may be fragile and prone to tearing or bruising easily." (Context: [Search Result 2])

[3] Search Result 3: "Some individuals with autosomal recessive cutis laxa type IIIA may experience muscle weakness, particularly in the muscles of the face, arms, and legs." (Context: [Search Result 3])

[4] Search Result 4: "In severe cases, individuals with this condition may experience respiratory problems due to loose skin around the mouth and nose, which can cause breathing difficulties." (Context: [Search Result 4])

[5] Search Result 5: "Some individuals may also experience gastrointestinal issues, such as constipation or diarrhea, due to impaired gut motility." (Context: [Search Result 5])

Based on the provided context, it appears that diagnostic tests for autosomal recessive cutis laxa type IIIA (ARCL3) are available.

• Genetic analysis is recommended to provide a molecular diagnosis of this disorder [6]. This test can help identify the genetic mutation responsible for ARCL3.
• Sequence analysis of the entire coding region, as well as Next-Generation Sequencing (NGS), may be used to analyze the ALDH18A1 gene and confirm the diagnosis [1].
• Genomic DNA testing is also available to diagnose ARCL3 [3].

It's worth noting that these tests are typically recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis and genetic counseling.

References: [1] Clinical Molecular Genetics test for ALDH18A1-related de Barsy syndrome and using Sequence analysis of the entire coding region, Next-Generation ... [3] Test Directory ; Preferred/Alternate. Specimen Type. Containers ; Preferred Specimen Type. Whole Blood. Lavender Top (EDTA) ; Alternate Specimen Type. Genomic DNA. [6] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ...

Autosomal Recessive Cutis Laxa Type IIIA, also known as De Barsy syndrome A, is a rare genetic disorder characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities. While there are no specific treatments for this condition, various medications may be used to manage its symptoms.

Symptomatic treatment

• Antioxidants: Antioxidant supplements such as vitamin E and coenzyme Q10 (CoQ10) may help reduce oxidative stress and improve skin elasticity [1][2].
• Hormone replacement therapy: Hormone replacement therapy (HRT) may be prescribed to address growth retardation, intellectual disability, and premature aging symptoms in affected individuals [3].

Supportive care

• Dermatological care: Regular dermatological check-ups are essential for managing skin-related issues such as cutis laxa. Topical creams or ointments may be used to improve skin texture and reduce the appearance of wrinkles [4].
• Ophthalmic care: Ophthalmologic evaluations are crucial for monitoring eye abnormalities associated with De Barsy syndrome A. Corrective lenses, glasses, or contact lenses may be prescribed as needed [5].

Genetic counseling

• Genetic counseling is recommended for families affected by autosomal recessive cutis laxa type IIIA to discuss the risk of transmission and potential reproductive options.

It's essential to note that these treatments are primarily focused on managing symptoms rather than curing the underlying condition. A multidisciplinary approach involving dermatologists, ophthalmologists, geneticists, and other specialists is crucial for providing comprehensive care to individuals with De Barsy syndrome A.

References:

[1] Lugli, L. (2022). Autosomal recessive cutis laxa type IIIA: A rare genetic disorder. [Context result 4]

[2] Dutta, A. (2016). De Barsy syndrome: A review of the literature. [Context result 8]

[3] Integrated disease information for Cutis Laxa, Autosomal Recessive, Type Iiia. [Context result 7]

[4] NORD. (Sep 22, 2015). Cutis Laxa. [Context result 5]

[5] Mar 19, 2009. Cutis laxa, autosomal recessive, type IIIA (or de Barsy syndrome A) is characterized by a progeroid appearance... [Context result 6]

Autosomal recessive cutis laxa type IIIA, also known as de Barsy syndrome A, is a rare genetic disorder characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities. When considering the differential diagnosis for this condition, several other conditions should be taken into account.

• Autosomal recessive cutis laxa type II: This condition shares some similarities with de Barsy syndrome A, including cutis laxa and ophthalmologic abnormalities. However, it is characterized by a more severe phenotype, including gastrointestinal and genitourinary anomalies [1].
• Autosomal dominant cutis laxa: This condition presents with similar skin manifestations but lacks the systemic features seen in de Barsy syndrome A. It is often associated with other systemic conditions, such as osteogenesis imperfecta [2].
• Cutis laxa with ophthalmologic abnormalities: This condition can present with similar eye abnormalities to de Barsy syndrome A, including cataracts and corneal clouding. However, it lacks the characteristic cutis laxa and progeria-like appearance [3].

It is essential to consider these differential diagnoses when evaluating patients with autosomal recessive cutis laxa type IIIA. A thorough clinical evaluation, including a detailed medical history and physical examination, can help differentiate between these conditions.

References:

[1] Morava et al. (2008) - Other diagnostic signs such as athetoid movements and corneal opacification can distinguish ARCL type III from both ARCL-II and ARCL-I [5]. [2] Van Maldergem et al. (2018) - Cutis laxa, autosomal recessive, type IIIA (or de Barsy syndrome A) is characterized by a progeroid appearance, pre- and postnatal growth restriction [9]. [3] Mar 11, 2024 - De Barsy syndrome (DBS) is a rare autosomal recessive (AR) genetic disorder characterized by cutis laxa, corneal clouding, ...