autosomal dominant cutis laxa 3

Autosomal dominant cutis laxa-3 (ADCL3) is a rare genetic disorder characterized by several distinct features.

• Thin skin with visible veins and wrinkles: Individuals with ADCL3 often have thin, loose skin that is prone to wrinkling and sagging. This can make the underlying veins more visible.
• Cataract or corneal clouding: Some people with ADCL3 may experience cataracts or corneal clouding, which can affect their vision.
• Clenched fingers: Individuals with ADCL3 often have clenched fingers, which can be a result of the skin's laxity and reduced elasticity.
• Pre- and postnatal complications: In some cases, ADCL3 may be associated with pre- and postnatal complications, although this is not always the case.

It's worth noting that ADCL3 is a rare condition, and more research is needed to fully understand its causes and effects. However, early diagnosis and treatment can help manage symptoms and improve quality of life for those affected.

References: * [1] - Characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal complications. * [4] - Autosomal dominant cutis laxa-3 (ADCL3) is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, ... * [8] - Autosomal dominant cutis laxa-3 (ADCL3) is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal complications. * [9] - Autosomal dominant cutis laxa-3 (ADCL3) is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal complications.

Autosomal Dominant Cutis Laxa (ADCL) is a rare genetic disorder characterized by loose, wrinkled, and sagging skin. The signs and symptoms of ADCL can vary in severity and may include:

• Loose hanging skin that forms folds, particularly on the face, neck, and thighs [6]
• Skin elasticity is reduced or absent
• Facial involvement is universal, with features such as a long face, prominent forehead, and deep-set eyes
• Systemic involvement is possible, affecting internal organs and tissues

It's worth noting that ADCL can affect individuals of any age, and the skin changes may begin at any time. In some cases, loose hanging skin may be the only feature present [8].

Autosomal dominant cutis laxa 3 (ADCL3) is a rare genetic disorder characterized by thin skin, visible veins and wrinkles, cataract or corneal clouding, clenched fingers, and other physical features. Diagnostic tests for ADCL3 typically involve a combination of clinical evaluation, medical history, and laboratory tests.

• Physical exam: A thorough physical examination can help identify the characteristic features of ADCL3, such as thin skin, visible veins, and wrinkles [8].
• Detailed medical history: A detailed medical history is essential to understand the patient's symptoms, family history, and any previous diagnoses [8].
• Skin biopsy: A skin biopsy may be performed to examine the skin tissue under a microscope and confirm the diagnosis of ADCL3 [8].
• Genetic testing: Genetic testing can help identify the specific genetic mutation responsible for ADCL3. This can involve molecular genetics tests, such as DNA sequencing or chromosomal analysis [1-6].

It's worth noting that prenatal diagnosis is also feasible by molecular testing for families in which the genetic anomaly has been identified [7]. However, the availability and accuracy of these tests may vary depending on the specific genetic mutation involved.

References:

[1] The cutis laxa panel covers the most of the known genes related to inherited forms of CL subtypes and a range of disorders with CL symptoms. Currently, not all [5]. [2] A 10 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of cutis laxa [6]. [3] Prenatal diagnosis is feasible by molecular testing for families in which the genetic anomaly has been identified [7]. [4] Cutis laxa can be diagnosed with a physical exam, a detailed medical history, a skin biopsy, and genetic testing [8]. [5] Autosomal dominant cutis laxa-3 (ADCL3) is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation [9].

Based on the available information, it appears that there is no specific treatment for autosomal dominant cutis laxa (ADCL), but rather management of symptoms and complications.

According to search result [6], "There is no cure for cutis laxa, but symptoms and complications can managed with medications and surgery."

Additionally, search result [9] mentions that "dapsone can be used acutely to control swelling in persons with acquired cutis laxa", however it does not specify if this treatment applies to autosomal dominant cutis laxa.

It's worth noting that the management of symptoms and complications may vary depending on the individual case, and a healthcare professional would need to assess each person's specific situation to determine the best course of action.

Based on the provided context, here are some conditions that can be considered as differential diagnoses for autosomal dominant cutis laxa (ADCL):

• Cutis laxa (the occipital horn form is allelic) [6]
• Ehlers-Danlos syndrome (EDS) [6]
• Neonatal congenital muscular dystrophy (cMS) [6]
• Biotinidase deficiency [6]
• Mitochondrial disorders [6]

It's worth noting that unlike some conditions in the differential diagnosis, autosomal dominant cutis laxa is not characterized by easy bruising or abnormal scarring. Redundant skin is often most noticeable on the face and neck [9].

References: [6] - Differential Diagnosis [9] - Unlike some conditions in the differential diagnosis, CL is not characterized by easy bruising or abnormal scarring.