autosomal dominant cutis laxa

Autosomal dominant cutis laxa (ADCL) is a rare genetic disorder that affects the connective tissue in the body, leading to loose and wrinkled skin.

Characteristics of ADCL:

• Loose and wrinkled skin that lacks elasticity
• Sagging skin folds, particularly on the face, neck, and arms
• Inguinal hernias (hernias in the groin area)
• Aortic root dilatation (enlargement of the aorta's main branch)
• Other potential features include:
  • Typical facial characteristics (not specified in the context)
  • Joint laxity (loose joints)

Causes and Genetics:

• ADCL is primarily caused by variants in the ELN gene, which codes for elastin, a protein essential for skin elasticity [1][2].
• Rarely, mutations in the FBLN5 gene can also cause ADCL [1].

References:

[1] Autosomal dominant cutis laxa (ADCL) is characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with skeletal muscle weakness, inguinal hernias, aortic root dilatation, and other features. [6] Autosomal dominant cutis laxa (ADCL), the most common form of the disorder, is primarily caused by variants in the ELN gene. Very rarely, FBLN5 mutations can also cause ADCL. [7]

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 skin: One of the hallmark features of ADCL is loose skin that hangs in folds, particularly on the face, neck, and thighs [5].
• Skin elasticity loss: The skin loses its elasticity, making it difficult to stretch or snap back into place [2][7].
• Wrinkled skin: The skin may appear wrinkled and redundant, with deep folds and creases [3][8].
• Facial involvement: Facial involvement is universal in ADCL, with loose skin hanging in folds on the face [9].

It's worth noting that the symptoms of ADCL can range from mild to severe, and may be accompanied by other systemic features such as skeletal abnormalities or internal organ involvement. However, the exact prevalence and severity of these additional features are not well established.

References:

[2] Sep 22, 2015 — Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, redundant, and lacking elasticity (inelastic). [3] A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. [5] Apr 26, 2024 — Autosomal Dominant Cutis Laxa (ADCL)​​ Symptoms of ADCL include: Loose skin that hangs in folds, especially on the face, neck, and thighs. [7] Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. The skin often hangs in loose folds. [8] Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal ... [9] Autosomal dominant. Skin changes may begin at any age. Loose hanging skin may be the only feature. Facial involvement is universal. Systemic involvement is ...

Autosomal dominant cutis laxa can be diagnosed through various tests, including:

• Clinical examination: A thorough physical exam by a healthcare professional to observe the characteristic loose and wrinkled skin (inelastic) [4].
• Family history: Reviewing the patient's family medical history to identify any similar cases or inherited conditions [3].
• Skin biopsy: Analyzing a skin sample under a microscope to confirm the presence of sparse, fragmented elastic fibers, which is a pathognomonic finding for cutis laxa [2].
• Genetic testing: A genetic test can be performed to identify mutations in the genes associated with autosomal dominant cutis laxa. This can include a 10-gene panel that includes assessment of non-coding variants, ideal for patients with a clinical suspicion of cutis laxa [6].

It's worth noting that a diagnosis of autosomal dominant cutis laxa is typically established in a proband (an individual who has the condition) with suggestive findings and a heterozygous pathogenic variant in one of the associated genes [3].

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

• According to search result [6], there is no cure for ADCL, but medications can be used to manage symptoms.
• Search result [9] mentions that dapsone can be used acutely to control swelling in persons with acquired cutis laxa, which may also apply to ADCL.
• However, it's worth noting that search results [8] and [9] mention that there is no specific treatment for preventing the progression of the disease.

It seems that the primary approach to managing ADCL is through symptom management rather than a targeted treatment. If you're looking for more information on this topic, I'd be happy to try searching again or provide more context from the search results.

References: [6] - There is no cure for cutis laxa, but symptoms and complications can managed with medications and surgery. [8] - There is no specific treatment for cutis laxa or preventing the progression of the disease. Treatment is directed at managing any complications that may arise... [9] - 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 possible differential diagnoses for autosomal dominant cutis laxa:

• Cutis laxa (occipital horn form): This is an allelic condition with autosomal dominant cutis laxa, and it's essential to consider this in the differential diagnosis [1].
• Ehlers-Danlos syndrome (EDS): EDS is a group of genetic disorders that affect the connective tissue. It can present with similar skin features as autosomal dominant cutis laxa, such as hyperextensible skin and joint laxity [2].
• Neonatal cutaneous malignant melanoma: This rare condition can present with skin lesions that may be mistaken for cutis laxa [3].
• Biotinidase deficiency: This is a rare genetic disorder that affects the metabolism of biotin, leading to skin and neurological symptoms similar to autosomal dominant cutis laxa [4].

It's essential to note that differential diagnoses are not mutually exclusive, and patients may have multiple conditions simultaneously. A thorough clinical examination, family history, and histological findings (such as sparse, fragmented elastic fibers) on skin biopsies can help differentiate these conditions [5].

References:

[1] Context 1 [2] Context 5 [3] Context 5 [4] Context 5 [5] Context 2