autosomal recessive cutis laxa type IA

Autosomal recessive cutis laxa type IA (ARCL1A) is a rare genetic disorder characterized by loose and wrinkled skin, giving a prematurely aged appearance. It affects the face, hands, feet, joints, and torso due to loss, fragmentation, or severe disorganization of dermal elastic fibers.

The symptoms of ARCL1A include:

• Loose and wrinkled skin
• Premature aging appearance
• Affecting the face, hands, feet, joints, and torso

This condition is caused by homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. The FBLN5 gene plays a crucial role in the production of elastin, a protein essential for skin elasticity.

ARCL1A can be distinguished from other forms of cutis laxa by its autosomal recessive inheritance pattern and specific clinical presentation. It is often associated with other systemic manifestations, such as pulmonary emphysema, peripheral pulmonary artery stenosis, and inguinal hernias.

References:

• [1] Cutis laxa encompasses a spectrum of rare connective tissue disorders characterized by loose or redundant skin, along with loss of elasticity and premature aging. (Source: Search result 2)
• [4] Cutis laxa, autosomal recessive, type ia is a disorder characterized by loose and wrinkled skin, giving a prematurely aged appearance. It affects the face, hands, feet, joints, and torso due to loss, fragmentation, or severe disorganization of dermal elastic fibers. (Source: Search result 4)
• [14] An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. (Source: Search result 14)

Autosomal Recessive Cutis Laxa (ARCL) Type I is a rare genetic disorder characterized by loose, wrinkled skin that lacks elasticity. The signs and symptoms of ARCL Type I can vary in severity and may include:

• Loose, wrinkled skin: One of the hallmark features of ARCL Type I is sagging, redundant skin that does not snap back into place when stretched [4].
• Delayed development: People with ARCL Type I may experience delayed development, including intellectual disability [1][6].
• Bone abnormalities: Affected individuals may have bone abnormalities, such as delayed joining of skull bones or hip dislocation [7].
• Life-threatening organ symptoms: In severe cases, ARCL Type I can lead to life-threatening complications, including lung atelectasis and emphysema, diverticula of the intestines, and other systemic involvement [9].

It's worth noting that the severity and progression of ARCL Type I can vary significantly from person to person. Early diagnosis and management are crucial in preventing or minimizing these symptoms.

References: [1] Aug 5, 2021 — In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, ... [4] Feb 21, 2024 — A hallmark of cutis laxa disorders is sagging, wrinkly skin that isn't elastic. If you stretch the skin, it moves abnormally slowly back into ... [6] Aug 5, 2021 — In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, ... [7] Autosomal recessive (types I and II). Symptoms and signs usually begin in infancy. Loose skin. Bone abnormalities (e.g. delayed joining of skull bones, hip ... [9] Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of ...

Autosomal recessive cutis laxa type IA (ARCL1A) is a rare genetic disorder that affects the connective tissue in the body. Diagnostic tests for ARCL1A are crucial to confirm the diagnosis and establish the underlying subtype.

Electron Microscopy: Electron microscopy is diagnostic in most types of autosomal recessive cutis laxa, especially in the severe forms of ARCL I and II (Source: [3]). This test can demonstrate a moth-eaten appearance, abnormal elastin fiber structure, and other characteristic features of the disorder.

Molecular Genetic Testing: Molecular genetic testing can confirm a diagnosis of an inherited form of cutis laxa and establish the specific, underlying subtype in some cases (Source: [2]). This test involves analyzing DNA samples to identify mutations in genes associated with ARCL1A.

Clinical Genetic Tests: Clinical genetic tests offered by Intergen and HNL Genomics can also aid in diagnosing ARCL1A. These tests analyze genes associated with the disorder, such as FBLN5 (Source: [1] and [4]).

Imaging Studies: Imaging studies, including skeletal surveys and histological analysis of skin biopsies, can provide additional diagnostic information for ARCL1A (Source: [8] and [9]). These tests can help identify characteristic features of the disorder, such as wrinkled, redundant, and sagging inelastic skin.

Genetic Analysis: Genetic analysis to provide a molecular diagnosis of this disorder is recommended for individuals suspected of having ARCL1A (Source: [12]).

It's essential to note that diagnosis is made on the basis of physical and developmental examination, skeletal surveys, imaging studies, histological analysis of skin biopsies, and genetic testing (Source: [8]). A comprehensive diagnostic approach is necessary to confirm the diagnosis and establish the underlying subtype of ARCL1A.

Based on the available information, it appears that there are no effective therapeutic strategies available for autosomal recessive cutis laxa type I (ARCL1). However, symptomatic treatment of pulmonary emphysema and other complications may be necessary to manage the condition.

• Symptomatic treatment of pulmonary emphysema is a common approach for managing ARCL1 [1].
• There are no specific treatments available for preventing the progression of ARCL1 or cutis laxa in general [5].

It's essential to note that treatment for ARCL1 and cutis laxa is primarily focused on managing complications, as there are no curative therapies available. A multidisciplinary approach with a team of healthcare professionals may be necessary to provide comprehensive care.

References: [1] - The first point in the context suggests symptomatic treatment of pulmonary emphysema for ARCL1. [5] - This point states that there is no specific treatment for preventing the progression of cutis laxa or ARCL1.

Autosomal recessive cutis laxa type IA (ARCL1A) has a differential diagnosis that includes other forms of cutis laxa and related syndromes.

Other Forms of Cutis Laxa:

• Autosomal dominant cutis laxa: This form is characterized by skin that is loose, wrinkled, and sagging, similar to ARCL1A. However, it typically presents later in life and may not be associated with the same severity of symptoms (3).
• X-linked cutis laxa: This rare form is inherited in an X-linked recessive pattern and primarily affects males. It is characterized by skin that is loose and wrinkled, as well as other systemic features such as bone abnormalities and intellectual disability (7).

Related Syndromes:

• Ehlers-Danlos Syndrome: This group of genetic disorders is often considered in the differential diagnosis for cutis laxa due to its similar clinical presentation. However, Ehlers-Danlos Syndrome typically presents with additional features such as joint hypermobility and skin fragility (4).

Key Features to Distinguish ARCL1A from Other Conditions:

• Gene mutation: ARCL1A is associated with a deficiency of lysyl oxidase, a copper-dependent enzyme mapped to chromosome 5 (5).
• Clinical findings: Cutis laxa in ARCL1A typically presents with loose skin, emphysema, aneurysms, and other systemic features such as gastrointestinal and genitourinary malformations (2).

In summary, the differential diagnosis for autosomal recessive cutis laxa type IA includes other forms of cutis laxa and related syndromes. Accurate diagnosis requires consideration of key clinical findings and genetic mutations associated with each condition.

References:

(1) Context result 1 (2) Context result 2 (3) Context result 3 (4) Context result 4 (5) Context result 5