autosomal dominant cutis laxa 1

Autosomal Dominant Cutis Laxa (ADCL) is a rare genetic disorder characterized by loose and wrinkled skin, which can give the appearance of premature aging [3]. The condition is caused by mutations in the elastin gene (ELN), which affects the production or function of elastin, a protein essential for maintaining skin elasticity [7].

Individuals with ADCL often experience sagging and redundant skin, particularly on the face, neck, and hands. In some cases, the disorder may be associated with other symptoms, such as inguinal hernias, aortic root dilatation, and skeletal abnormalities [9]. The condition is typically inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

It's worth noting that ADCL is one of the most common forms of cutis laxa, which is a collection of disorders characterized by loose and wrinkled skin [4].

Based on the available information, the signs and symptoms of Autosomal Dominant Cutis Laxa (ADCL) include:

• Loose skin that hangs in folds, especially on the face, neck, and thighs [5]
• Skin changes may begin at any age
• Facial involvement is universal
• Systemic involvement is possible, but not always present

It's worth noting that the symptoms of ADCL can

Autosomal dominant cutis laxa (ADCL) is a rare genetic disorder that affects the skin and connective tissue. Diagnostic tests for ADCL are crucial in confirming the diagnosis and ruling out other conditions.

Clinical Genetic Test: A clinical genetic test, such as the one offered by HNL Genomics, can be used to diagnose ADCL. This test involves analyzing the genes associated with the condition (7). The test is particularly useful when a family history of the condition exists.

• Genetic Testing: Genetic testing can identify mutations in the gene responsible for ADCL (3). This test is usually performed on a blood sample or skin biopsy.
• Skin Biopsy: A skin biopsy can be used to confirm the diagnosis by examining the histological findings, such as sparse and fragmented elastic fibers (2).
• Physical Examination: A physical examination can also aid in the diagnosis of ADCL. The condition is characterized by loose, wrinkled, sagging, redundant, and inelastic skin (4).

Other Diagnostic Tests: While not specifically mentioned in the context, other diagnostic tests such as imaging studies or laboratory tests may be used to rule out other conditions that may present with similar symptoms.

It's worth noting that a diagnosis of ADCL is typically established in a proband with suggestive findings and a heterozygous pathogenic variant (3). A 10-gene panel that includes assessment of non-coding variants can also be ideal for patients with a clinical suspicion of cutis laxa, including ADCL (6).

References: (2) - Diagnosis is based on clinical examination, family history and pathognomonic histological findings (sparse, fragmented elastic fibers) on skin biopsies. (3) - Sep 29, 2022 — Diagnosis/testing.​​ The diagnosis of ELN-related cutis laxa is established in a proband with suggestive findings and a heterozygous pathogenic (... (4) - Sep 22, 2015 — Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, redundant, and lacking elasticity (inelastic). (6) - Nov 13, 2023 — A 10 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of cutis laxa. (7) - Clinical Genetic Test offered by HNL Genomics Connective Tissue Gene Tests for conditions (7): Cutis laxa, autosomal dominant 1; Autosomal recessive cutis ...

Based on the provided context, it appears that there is limited information available on the specific treatment for autosomal dominant cutis laxa (ADCL). However, I can provide some general information on the management and treatment options for this condition.

Management of ADCL

According to search result [6], there is no cure for cutis laxa, including ADCL. The primary focus of treatment is on managing symptoms and complications that may arise from the disease.

Medications used in ADCL

While there is no specific treatment for ADCL, some medications have been used to manage symptoms and complications associated with this condition. According to search result [9], dapsone can be used acutely to control swelling in persons with acquired cutis laxa, which may also apply to ADCL.

Other treatment options

In addition to medications, other treatment options such as plastic surgery may be considered on a case-by-case basis to address specific symptoms or complications associated with ADCL. However, this should be done under the guidance of a qualified healthcare professional.

It's essential to note that the management and treatment of ADCL can vary depending on individual circumstances, and more research is needed to fully understand the most effective treatment approaches for this condition.

References: [6] - Cutis laxa: A group of disorders that affect your connective tissue. Learn about the causes, symptoms, and treatment options for this rare condition. [9] - Treatment. No treatment exists to prevent disease progression, although dapsone can be used acutely to control swelling in persons with acquired cutis laxa.

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

• Cutis laxa (the occipital horn form is allelic) [5]
• Ehlers-Danlos syndrome (EDS) [5]
• Neonatal cutaneous mucinosis (CMS) [5]
• Biotinidase deficiency [5]
• Mitochondrial disorders [5]

It's worth noting that ADCL is generally a mild cutaneous disorder, but systemic manifestations such as hernias and cardiac valve anomalies can occur. The diagnosis of ADCL is based on clinical examination, family history, and pathognomonic histological findings (sparse, fragmented elastic fibers) on skin biopsies [2].

References: [1] - Not applicable [2] - Context #2 [5] - Context #5