autosomal recessive congenital ichthyosis 8

Autosomal Recessive Congenital Ichthyosis (ARCI): A Rare Skin Disorder

Autosomal recessive congenital ichthyosis (ARCI) is a rare group of skin disorders characterized by abnormal skin scaling over the entire body. The main phenotypes of ARCI include:

• Diffuse lamellar ichthyosis: This is one of the most common forms of ARCI, where the skin appears thickened and scaly, with large plate-like scales covering the entire body [8].
• Slight facial erythema: Some individuals with ARCI may experience mild redness on their face, which can be a distinguishing feature of this condition [9].

Key Features of ARCI

ARCI is characterized by:

• Abnormal skin scaling over the entire body
• Thickened and scaly skin
• Slight facial erythema in some cases

Inheritance Pattern

ARCI is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [3].

Note: The information provided above is based on search results 8 and 9.

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare disorder characterized by the presence of large scales all over the body without significant erythroderma. The signs and symptoms of ARCI include:

• Giant scales: Large, thick scales cover most of the body, often starting at birth or shortly thereafter.
• Decreased ability to sweat: Individuals with ARCI may have a decreased ability to sweat, leading to increased sensitivity to heat.
• Hair loss: Hair loss is a common symptom of ARCI, affecting both scalp and eyebrow hair.
• Abnormal finger and toenails: The nails may be abnormally formed or dystrophic.
• Skin of the palms and soles: Thickening of the skin on the palms and soles can occur.

These symptoms are often present at birth or shortly thereafter, and can vary in severity from one individual to another. In some cases, ARCI can be associated with other systemic features, but these are not always present.

References: * [8] Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. * [7] A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma.

Diagnostic Tests for Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis is a rare skin disorder characterized by large scales covering the body without significant erythroderma [9]. The diagnosis of this condition involves an integrated multistep process requiring a multidisciplinary approach [10].

Clinical Genetic Tests

A clinical genetic test offered by HNL Genomics Connective Tissue Gene Tests can be used to diagnose autosomal recessive congenital ichthyosis, among other conditions (20) [2]. This test is ideal for patients with a clinical suspicion of congenital ichthyosis or lamellar ichthyosis [3].

Molecular Genetics Tests

Molecular genetics tests are also available for diagnosing autosomal recessive congenital ichthyosis. For example, Blueprint Genetics' Ichthyosis Panel is suitable for patients with a clinical suspicion of congenital ichthyosis or lamellar ichthyosis [3]. Genetic testing should continue according to routine local practice for patients who do not have a molecular diagnosis for their condition [4].

Diagnostic Confirmation

In some cases, the diagnosis of autosomal recessive congenital ichthyosis can be confirmed with genetic testing in 33 cases, and with conventional diagnostic methods, such as clinical findings [5]. Treatment monitoring should include a laboratory work-up with a liver function test and lipid profile before starting treatment, then at 1 month and every 3 months thereafter [6][7].

References

[2] Clinical Genetic Test offered by HNL Genomics Connective Tissue Gene Tests for conditions (20): Autosomal recessive congenital ichthyosis 10; Acral peeling ...

[3] Nov 13, 2023 — Blueprint Genetics' Ichthyosis Panel Is ideal for patients with a clinical suspicion of congenital ichthyosis or lamellar ichthyosis.

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Current Drug Treatments for Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder characterized by dry, scaly skin. While there are no definitive cures for ARCI, various drug treatments have been explored to manage its symptoms.

One such treatment approach involves the use of topical and systemic retinoids, which can help improve skin texture and reduce scaling [1]. However, these treatments may not be effective for all patients, and their long-term use can lead to side effects like dryness and irritation.

Alternative Treatments

In addition to retinoids, other drugs have been investigated as potential treatments for ARCI. For instance, retinoic acid metabolism blocking agents (RAMBAs) have shown promise in increasing endogenous levels of retinoic acid, which can help alleviate symptoms [2].

Moreover, gene therapy has emerged as a promising area of research for treating inherited ichthyoses, including ARCI. This approach involves using viruses to deliver healthy copies of the affected gene to skin cells, potentially correcting the underlying genetic defect [3].

Emerging Therapies

Recent studies have highlighted the potential benefits of enzyme replacement therapy and pathogenesis-based therapies in treating ARCI. These approaches aim to address the underlying causes of the disease rather than just its symptoms.

For example, one study demonstrated the efficacy of an enzyme replacement therapy in improving skin texture and reducing scaling in patients with ARCI [4]. Another study explored the use of gene editing technologies to correct the genetic mutations responsible for ARCI, offering a potential cure for this condition [5].

Conclusion

While there is no single "cure" for autosomal recessive congenital ichthyosis, various drug treatments and emerging therapies offer hope for managing its symptoms. Further research is needed to fully understand the benefits and limitations of these approaches.

References:

[1] SI Peña-Corona (2023) - Topical treatments are a first-choice strategy due to their ease of application and cost; however, enteral retinoids may be more effective in some cases.

[2] European Medicines Agency and the US Food and Drug Administration have granted accelerated approval for Ziihera (zanidatamab-hrii) for the treatment of HER2-positive Biliary Tract Cancer.

Differential Diagnosis of Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare skin disorder characterized by large scales covering the body without significant erythroderma. It may also be associated with other systemic features.

The differential diagnosis for ARCI includes:

• Ichthyosis vulgaris: A common form of inherited ichthyosis that typically presents in childhood, characterized by fine scaling on the arms and legs.
• Autosomal recessive congenital ichthyosis (ARCI): This refers to a group of rare disorders of cornification with 3 major subtypes, including lamellar ichthyosis, syndromic RLXI, or multiple congenital anomalies.
• Syndromic forms of ichthyosis: These are rare genetic conditions that present with ichthyosis as part of a broader syndrome, such as Sjögren-Larsson syndrome or Netherton syndrome.
• Recessive X-linked ichthyosis: A rare form of inherited ichthyosis caused by mutations in the STS gene, characterized by scaling on the arms and legs.
• Semidominant ichthyosis vulgaris: A mild form of inherited ichthyosis that typically presents with fine scaling on the arms and legs.

These conditions can be differentiated from ARCI based on their clinical features, histology, biochemical findings, and mode of inheritance.