autosomal recessive congenital ichthyosis 3

Autosomal Recessive Congenital Ichthyosis 3 (ARCI3) is a rare genetic disorder that affects the skin's ability to produce and maintain its natural moisture barrier.

Characteristics:

• ARCI3 is characterized by mild ichthyosis, which means that the skin has an abnormal texture and may appear scaly or dry.
• Fine scales are typically present on the scalp, face, trunk, and limbs.
• Dark brown adherent scales can also be found on the skin.

Causes:

• ARCI3 is caused by a mutation in the ALOXE3 gene, which plays a crucial role in the production of natural moisturizing factors in the skin.

Other Information:

• ARCI3 is a type of autosomal recessive congenital ichthyosis, meaning that it is inherited in an autosomal recessive pattern.
• This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

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

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare genetic disorder that affects the skin's ability to produce natural moisturizers, leading to dry, scaly, and thickened skin. The signs and symptoms of ARCI can vary in severity and may include:

• Dry, scaly, and thickened skin: The skin may appear rough, dry, and scaly, with a characteristic "fish-scale" appearance.
• Palmoplantar keratoderma: The palms and soles are often severely thickened, leading to painful fissures and digital contractures.
• Ectropion and eclabium: The eyelids may turn outward (ectropion), and the ears may be misshapen or deformed (eclabium).
• Scalp involvement and hair loss: The scalp may become involved, leading to scarring alopecia, and there may be a decrease in hair growth.
• Nail dystrophy: The fingernails and toenails may be abnormally formed.

These symptoms can appear at birth or shortly after, and the severity of the condition can vary from person to person. In some cases, ARCI can lead to more severe complications if left untreated.

References: [7] Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. [3] Apr 20, 2023 — Palms and soles are often severely thickened (palmoplantar keratoderma), with painful fissures and digital contractures. Ectropion, eclabium, ... [5] Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., ...

Based on the provided context, diagnostic tests for autosomal recessive congenital ichthyosis (ARCI) include:

• Molecular genetic testing is recommended for the parents of a proband who has been diagnosed with ARCI to confirm their carrier status [3].
• Genetic testing of blood can be used to diagnose ARCI, and in many cases, it involves testing for mutations in the transglutaminase

Treatment Options for Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder characterized by dry, scaly skin. While there are no approved treatments specifically for ARCI, various topical and systemic therapies have shown promise in managing symptoms.

Topical Treatments

• Topical retinoids, such as trifarotene [6], have been investigated for their potential to improve skin hydration and reduce scaling.
• Emollients and moisturizers can help hydrate the skin and reduce dryness [7].
• Keratolytic agents, which break down keratin, a protein that contributes to skin scaling, may also be beneficial [7].

Systemic Therapies

• Vitamin D analogs have been studied for their potential to normalize keratinization and suppress inflammatory cytokines in patients with ARCI [5].
• Retinoic acid metabolism blocking agents (RAMBAs) can increase endogenous levels of retinoic acid, which may help improve skin symptoms [8].

Emerging Therapies

• TMB-001 0.05% has demonstrated promising efficacy and safety in treating moderate to severe congenital ichthyosis, according to a recent poster presentation [3].
• N-acetylcysteine, combined with urea, has shown good results in the treatment of children with lamellar ichthyosis, a related condition [9].

Pathogenesis-Based Therapies

• Enzyme replacement therapy and gene therapy are emerging as promising approaches for treating ARCI, based on recent developments in pathogenesis-based therapies [4].

It's essential to note that these treatments may not be specifically approved or recommended for autosomal recessive congenital ichthyosis. Consultation with a dermatologist or healthcare professional is necessary to determine the best course of treatment for individual cases.

References: [3] - 3 [5] - 5 [6] - 6 [7] - 7 [8] - 8 [9] - 9

Based on your query, I will provide an informative response about the differential diagnosis of autosomal recessive congenital ichthyosis 3 (ARCI3).

What is ARCI3? ARCI3 is a rare genetic disorder characterized by severe scaling skin lesions that are present at birth. It is caused by mutations in the TGM5 gene, which codes for an enzyme involved in the formation of the skin's natural moisturizing barrier.

Differential Diagnosis

The differential diagnosis of ARCI3 includes other congenital ichthyoses and rare genetic disorders that affect the skin. Some of these conditions include:

• Autosomal recessive congenital ichthyosis 1 (ARCI1): This is another form of autosomal recessive congenital ichthyosis, caused by mutations in the STS gene.
• Autosomal dominant congenital ichthyosis: This condition is caused by mutations in the TGM1 gene and presents with a similar phenotype to ARCI3 but has an autosomal dominant inheritance pattern.
• Harlequin ichthyosis: This is a rare and severe form of congenital ichthyosis, characterized by large, plate-like scales that cover the entire body.
• Epidermolytic ichthyosis: This condition is caused by mutations in the KRT10 gene and presents with blistering skin lesions.

Key Features for Differential Diagnosis

To differentiate ARCI3 from other forms of congenital ichthyosis, clinicians should look for the following key features:

• Genetic testing: Genetic testing can confirm the diagnosis of ARCI3 by identifying mutations in the TGM5 gene.
• Clinical presentation: The clinical presentation of ARCI3 is characterized by severe scaling skin lesions that are present at birth. Other forms of congenital ichthyosis may have a similar presentation, but the severity and distribution of the lesions can be different.
• Family history: A family history of autosomal recessive inheritance can support the diagnosis of ARCI3.

References

1. [1] The TGM5 gene is responsible for encoding an enzyme involved in the formation of the skin's natural moisturizing barrier, which is essential for maintaining healthy skin (Source: Search result 1).
2. [2] Autosomal recessive congenital ichthyosis 1 (ARCI1) is another form of autosomal recessive congenital ichthyosis caused by mutations in the STS gene (Source: Search result 2).
3. [3] Harlequin ichthyosis is a rare and severe form of congenital ichthyosis characterized by large, plate-like scales that cover the entire body (Source: Search result 3).

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