autosomal recessive congenital ichthyosis 2

Autosomal Recessive Congenital Ichthyosis 2 (ARCI2) is a rare disorder characterized by abnormal skin scaling over the whole body, which is a part of a larger group of disorders known as Autosomal Recessive Congenital Ichthyosis (ARCI). This condition is caused by homozygous or compound heterozygosity for mutations in the ALOX12B gene [10].

The symptoms of ARCI2 typically manifest at birth or early infancy, and may include generalized scaling and variable erythema. The severity of the condition can vary significantly among affected individuals, ranging from mild to severe forms [4]. In some cases, the condition may be associated with other systemic features, although this is not a universal finding.

ARCI2 is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition. Carriers of the mutation, who have one normal and one mutated copy of the gene, are generally asymptomatic but can pass the mutation on to their offspring [12].

It's worth noting that ARCI2 is a rare form of ichthyosis, and as such, there may be limited information available about its specific characteristics and management. However, in general, treatment for ARCI often involves topical therapies aimed at managing symptoms and improving skin hydration and barrier function [11].

Autosomal Recessive Congenital Ichthyosis 2 (ARCI2) is a rare genetic skin disorder that presents at birth. The condition often progresses to large patches of thickened, black, scaly skin [1]. Some common signs and symptoms of ARCI2 include:

• Severe skin flaking: The skin may appear dry, scaly, and cracked, with large patches of thickened skin [9].
• Weight loss and lethargy: In some cases, individuals with ARCI2 may experience weight loss and lethargy, which can be challenging to manage with medications or baths [4].
• Palmoplantar keratoderma: The palms and soles are often severely thickened, with painful fissures and digital contractures [3].
• Ectropion and eclabium: The skin around the eyes may pull tightly, causing the eyelids to turn outward and exposing the inner red lid, leading to continuous irritation [8].
• Scalp involvement and loss of eyebrows and lashes: In some cases, ARCI2 can affect the scalp, leading to hair loss, and may also cause the loss of eyebrows and lashes [5].

It's essential to note that the severity of ARCI2 can vary greatly among individuals, and life expectancy depends on the severity of the condition.

Autosomal Recessive Congenital Ichthyosis 2 (ARCI2) is a rare genetic disorder characterized by severe skin scaling and flaking. Diagnostic tests for ARCI2 are crucial in confirming the condition, especially in cases where clinical evaluation is inconclusive.

According to search results, diagnostic tests for ARCI2 may include:

• Molecular genetics tests such as deletion/duplication analysis [1], sequence analysis of the entire coding region [27], and targeted variant analysis [7].
• Genetic testing can determine precisely which type of ichthyosis a person has, including pinpointing the specific gene mutation responsible for ARCI2 [8].

It's essential to note that genetic tests may not be suitable for everyone. For instance, patients with a molecular diagnosis for their condition are not eligible for this test [7]. Additionally, heterozygous carriers (1-2) of the disease variant allele may not develop signs of ichthyosis but can pass it on to their offspring [6].

A clinical genetic test offered by HNL Genomics Connective Tissue Gene Tests can also be used to diagnose conditions related to ARCI2, such as autosomal recessive congenital ichthyosis 10 and acral peeling [3].

Based on the provided context, here's an informative response regarding drug treatment for autosomal recessive congenital ichthyosis:

Treatment Options

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder that affects the skin. While there are no specific treatments available to cure ARCI, various medications and therapies can help manage its symptoms.

• Oral Isotretinoin: Studies have shown that oral isotretinoin, a derivative of vitamin A, can be effective in improving ichthyosis without any significant side effects [3][7]. This treatment option is particularly useful for patients with severe skin lesions.
• Retinoids: Enteral administration of retinoids offers greater efficacy compared to topical treatments due to their ability to penetrate deeper into the skin [1][2]. However, this method may not be suitable for all patients and requires careful consideration.
• Enzyme Replacement Therapy (ERT): ERT has shown promising results in treating ARCI by replacing deficient enzymes that contribute to the disease's pathogenesis [4].
• Gene Therapy: Gene therapy is another emerging treatment option being explored for ARCI. This approach involves correcting the genetic mutation responsible for the condition.

Topical Treatments

While not specifically mentioned as a treatment for autosomal recessive congenital ichthyosis, topical treatments can still be beneficial in managing symptoms. For example:

• Skin Barrier Repair Formulas: These formulas containing ceramides or cholesterol can help repair the skin's outer layer and reduce scaling [9].
• Emollients: Emollients with 2–10% urea, 5–15% lactic acid, or other moisturizing ingredients can be used to soften and protect the skin [10].

Current Standard of Care

The current standard for treating mild to moderate autosomal recessive congenital ichthyosis involves daily applications of emollients containing specific concentrations of urea, lactic acid, or other ingredients.

Please note that these treatment options may not be suitable for all patients and should be discussed with a healthcare professional before initiation.

The differential diagnosis for autosomal recessive congenital ichthyosis (ARCI) includes several conditions that can present with similar skin manifestations.

• Syndromic forms of ichthyosis: These are rare genetic disorders that involve multiple systems and can be distinguished from ARCI by the presence of additional symptoms such as intellectual disability, heart defects, or other systemic features [7].
• Recessive X-linked ichthyosis: This is a rare genetic disorder caused by mutations in the STS gene, which affects the production of dihydrotestosterone. It typically presents with scaling skin and can be distinguished from ARCI by its X-linked inheritance pattern [7].
• Semidominant ichthyosis vulgaris: This is a mild form of ichthyosis that can be inherited in an autosomal dominant or semidominant manner. It typically presents with dry, scaly skin on the arms and legs, but not as severe as ARCI [7].
• CIE (Congenital Ichthyosiform Erythroderma): This is a rare form of ichthyosis that can be distinguished from ARCI by its more severe erythema and scaling [7].

It's essential to consider these differential diagnoses when evaluating patients with suspected ARCI, as accurate diagnosis requires a comprehensive understanding of the patient's clinical presentation and family history.

References: [7] - Differential diagnosis includes syndromic forms of ichthyosis, recessive X-linked ichthyosis and semidominant ichthyosis vulgaris, and CIE in case of ...