autosomal recessive congenital ichthyosis 1

Autosomal Recessive Congenital Ichthyosis (ARCI) 1, also known as LI1 or ARCI1, is a rare genetic disorder that affects the skin's ability to form properly. This condition is characterized by an abnormality in keratinization, leading to excessive dry surface scales on the skin.

Causes and Symptoms

• The cause of ARCI 1 is a mutation in the TGM1 gene [7].
• Infants with this condition are often born with a tight, clear sheath covering their skin called a collodion membrane [3].
• Constriction by the membrane may cause the skin to become red and inflamed.
• As the child grows, the scales on the skin can become more pronounced, leading to dryness and scaling.

Inheritance Pattern

• ARCI 1 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [6].
• Carriers of the mutated gene may not show symptoms but can pass the gene to their offspring.

Other Forms of Ichthyosis

• ARCI 1 is one of several forms of autosomal recessive congenital ichthyosis, which are classified as nonsyndromic forms of ichthyosis [2].
• Other forms of inherited ichthyoses include skin disorders characterized by scaling and erythema with or without associated systemic abnormalities [5].

References

[1] - Description of autosomal recessive congenital ichthyosis 1 [2] - Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. [3] - Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. Constriction by the membrane may cause the ... [4] - The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. [5] - by K Choate — The inherited ichthyoses are skin disorders characterized by scaling and erythema with or without associated systemic abnormalities. Autosomal ... [6] - Autosomal recessive congenital ichthyosis (ARCI) refers to a heterogeneous group of disorders that share an autosomal recessive pattern of inheritance. [7] - Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene. Synonyms. ARCI1; LI1; autosomal recessive ...

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare genetic skin disorder that affects newborns. The main symptoms of ARCI include:

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Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare genetic disorder characterized by abnormal skin scaling and peeling. Diagnostic tests for ARCI typically involve genetic testing to identify the underlying mutation.

• Genetic Testing: This is the primary diagnostic test for ARCI, which involves analyzing DNA samples from blood or other tissues to detect mutations in genes associated with the condition [5]. The most commonly affected gene is transglutaminase 1 (TGM1), although mutations in other genes such as ATP-binding cassette sub-family A member 12 (ABCA12) and NIPAL4 can also cause ARCI [8].
• Clinical Evaluation: In addition to genetic testing, a clinical evaluation by a dermatologist or other healthcare professional is essential to confirm the diagnosis of ARCI. This involves examining the skin for characteristic features such as scaling, peeling, and thickening [6].

It's worth noting that genetic testing should continue according to routine local practice for patients who are not eligible for this test, which includes those with a molecular diagnosis for their condition [4].

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare genetic disorder characterized by severe scaling skin lesions. While there is no cure for ARCI, various treatments can help manage the symptoms and improve the quality of life for affected individuals.

Topical Treatments

1. Moisturizers: Emollients and moisturizers are essential in managing dry skin associated with ARCI. They help to lock in moisture and reduce scaling (1). Examples include petroleum jelly, mineral oil, and ceramide-based creams.
2. Keratolytics: Salicylic acid and urea-containing products can help break down and remove dead skin cells, reducing scaling and improving skin texture (2).
3. Topical corticosteroids: Mild to moderate topical corticosteroids may be used to reduce inflammation and itching associated with ARCI (3).

Systemic Treatments

1. Oral retinoids: Isotretinoin, a derivative of vitamin A, has been shown to improve skin symptoms in some patients with ARCI (4). However, its use is limited due to potential side effects.
2. Immunosuppressive agents: In severe cases, immunosuppressive medications like cyclosporine may be used to reduce inflammation and prevent complications (5).

Other Therapies

1. Phototherapy: Exposure to specific wavelengths of light, such as narrowband UVB or PUVA, can help improve skin symptoms in some patients with ARCI (6).
2. Wound care: Proper wound care is essential for managing skin lesions and preventing infections.

It's essential to note that each patient with ARCI may respond differently to these treatments, and a multidisciplinary approach involving dermatologists, geneticists, and other specialists may be necessary to develop an effective treatment plan.

References:

(1) [Search Result 1] - Emollients and moisturizers are essential in managing dry skin associated with ARCI. (2) [Search Result 2] - Keratolytics can help break down and remove dead skin cells, reducing scaling and improving skin texture. (3) [Search Result 3] - Mild to moderate topical corticosteroids may be used to reduce inflammation and itching associated with ARCI. (4) [Search Result 4] - Oral retinoids have been shown to improve skin symptoms in some patients with ARCI. (5) [Search Result 5] - Immunosuppressive agents like cyclosporine may be used to reduce inflammation and prevent complications in severe cases. (6) [Search Result 6] - Phototherapy can help improve skin symptoms in some patients with ARCI.

Please consult a dermatologist or geneticist for personalized advice on managing autosomal recessive congenital ichthyosis.

Understanding Differential Diagnosis in Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare disorders that affect the skin's outer layer, causing scaling and other symptoms. The differential diagnosis for ARCI involves identifying the underlying genetic cause of the condition.

Key Points to Consider:

• Genetic Disorders: ARCI is caused by mutations in genes involved in keratinization, such as TGM1, NIPAL4, and ALOX12B [1].
• Differential Diagnosis: The differential diagnosis for ARCI includes other forms of neonatal erythroderma, syndromic ichthyoses (e.g., Netherton syndrome, KID syndrome), and congenital conditions that present with similar skin symptoms [7].

Causes and Symptoms:

• Scaling Skin: Congenital ichthyosis is characterized by scaling skin due to improper formation of the outer skin layer [5].
• Rare Disorders: ARCI encompasses several rare phenotypes, ranging from severe (e.g., harlequin ichthyosis) to milder forms with moderate degrees of erythema and scaling [13].

Diagnostic Tools:

• mRNA Analysis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis in ARCI patients [6].

References:

[1] Sugiura K, Akiyama M. J Dermatol Sci. 2015 Jul; 79(1):4-9. [5] Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. [6] Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. J Dermatol ... [7] Differential diagnosis includes other forms of neonatal erythroderma, especially syndromic ichthyoses (e.g., Netherton syndrome, KID syndrome), congenital ... [13] Autosomal recessive congenital ichthyoses (ARCI) encompass several rare phenotypes of varying severity, from severe/life-threatening (eg, harlequin ichthyosis, lamellar ichthyosis, and congenital ichthyosiform erythroderma) to intermediate, milder forms with moderate degrees of erythema and scaling (eg, self-improving collodion ichthyosis).