autosomal recessive congenital ichthyosis 6

Autosomal Recessive Congenital Ichthyosis (ARCI): A Group of Rare Skin Disorders

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the body. This condition affects the skin's ability to produce and maintain its natural barrier, leading to excessive dryness and scaling.

Key Features:

• Abnormal skin scaling over the entire body
• Variable degree of desquamation (skin peeling)
• Genetic causes underlying the disorder

ARCI is a rare condition, and its symptoms can vary in severity from person to person. The main phenotypes associated with ARCI include:

• Ectropion (drooping eyelids)
• Palmoplantar keratoderma (thickening of skin on palms and soles)
• Erythroderma (redness and inflammation of the skin)
• Congenital nonbullous ichthyosiform erythroderma
• Dry skin and epidermal acanthosis

References:

• [6] Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the body.
• [8] Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis.
• [9] ARCI is a heterogeneous group of disorders of keratinization characterized mainly by abnormal skin scaling over the whole body.

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare genetic disorder that affects the skin's ability to produce keratin, leading to various signs and symptoms. Some of the common signs and symptoms of ARCI include:

• Generalized skin desquamation: The skin sheds excessively, causing dryness and flakiness.
• Thickening of the skin: The skin becomes thickened, particularly on the palms and soles (palmoplantar keratoderma).
• Redness: The affected areas may become red and inflamed.
• Disfigurement and disability: The condition can cause significant disfigurement and disability due to the extensive skin involvement.

These symptoms can vary in severity and may be accompanied by other complications, such as ectropion (drooping eyelids), eclabium (enlarged ears), scalp involvement, and loss of eyebrows and lashes. It's essential to note that ARCI is a rare condition, and its signs and symptoms can differ from person to person.

References: * [6] Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. * [7] Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis.

Diagnostic Tests for Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare skin disorder characterized by large scales covering the body without significant erythroderma. The diagnostic tests for ARCI are crucial in confirming the condition and ruling out other similar disorders.

Multigene Panel Testing A multigene panel that includes the genes in Table 1 and other genes of interest (see Differential Diagnosis) is the diagnostic test of choice for patients with a clinical suspicion of congenital ichthyosis or lamellar ichthyosis [2]. This panel helps identify the underlying genetic cause of the condition.

Genetic Testing Genetic testing should continue according to routine local practice for patients suspected of having ARCI, even if a molecular diagnosis has been established in the proband [9]. Molecular genetic testing is recommended for the parents of the proband to confirm that both parents are carriers of the mutated gene.

Laboratory Work-up 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 [4][5]. This helps monitor the patient's response to treatment and detect any potential side effects.

In summary, the diagnostic tests for autosomal recessive congenital ichthyosis include:

• Multigene panel testing
• Genetic testing for patients and their parents
• Laboratory work-up with liver function test and lipid profile before and during treatment

References: [2] Apr 20, 2023 — A multigene panel that includes the genes in Table 1 and other genes of interest (see Differential Diagnosis) is the diagnostic test of choice, ... [4] by L Rodríguez-Pazos · 2013 · Cited by 114 — 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 ... [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 ... [9] by G Richard · 2017 · Cited by 315 — If a molecular diagnosis has been established in the proband, molecular genetic testing is recommended for the parents of the proband to confirm that both ...

Treatment Options for Autosomal Recessive Congenital Ichthyosis (ARCI)

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic skin disorder that affects the production of keratin, leading to dry, scaly skin. While there are no approved treatments for ARCI, various medications and therapies have shown promise in managing symptoms.

Topical Treatments

• Topical retinoids: These are often used as a first-line treatment due to their ease of application and cost-effectiveness [1][2].
• Emollients: Basic emollients can help moisturize the skin and reduce scaling [8].

Oral Medications

• Acitretin: This medication has been shown to alleviate scaling, erythema, and itch in some patients with ARCI [8].
• N-acetylcysteine (NAC): Studies have demonstrated that NAC, often used together with urea, can be effective in treating children with lamellar ichthyosis, a type of ARCI [3][7].

Other Therapies

• Enzyme replacement therapy and gene therapy: These pathogenesis-based therapies hold promise for the treatment of ARCI, although more research is needed [4].
• Retinoic acid metabolism blocking agents (RAMBAs): These drugs can increase endogenous levels of retinoic acid, potentially alleviating symptoms [9].

Vitamin D Therapy

• High doses of vitamin D have been shown to normalize keratinization and suppress inflammatory cytokines in some patients with ARCI [5].

It's essential to note that each patient may respond differently to these treatments, and a comprehensive treatment plan should be tailored to individual needs. Consultation with a dermatologist or healthcare professional is recommended for personalized guidance.

References: [1] SI Peña-Corona (2023) - Topical treatments are a first-choice strategy due to their ease of application and cost. [2] SI Peña-Corona (2023) - Enteral administration of retinoids offers an alternative treatment option. [3] DS Chulpanova (2022) - N-acetylcysteine has shown good results in treating children with lamellar ichthyosis. [4] MDW Joosten (2022) - Pathogenesis-based therapies, such as enzyme replacement therapy and gene therapy, hold promise for ARCI treatment. [5] SI Peña-Corona (2023) - High doses of vitamin D can normalize keratinization and suppress inflammatory cytokines in patients with ARCI. [6] E Lilly (2023) - Since there are no approved treatments for any ichthyosis type, work to validate the use of topical retinoids, biologics, and anti-inflammatory agents. [7] DS Chulpanova (2022) - N-acetylcysteine has shown good results in treating children with lamellar ichthyosis. [8] C Live (2023) - Basic emollients and low-dose acitretin slightly alleviated scaling, erythema, and itch in a patient with ARCI. [9] L Rodríguez-Pazos (2013) - Retinoic acid metabolism blocking agents can increase endogenous levels of retinoic acid.

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. The differential diagnosis for ARCI includes:

• Ichthyosis vulgaris: A common form of inherited ichthyosis, also known as "dry skin" or "fish scale disease". It typically presents with fine scales on the legs and arms.
• Autosomal recessive lamellar ichthyosis (ARLI): A rare form of ARCI caused by mutations in the TGM1 gene. It is characterized by large, plate-like scales covering the body.
• Syndromic RLXI: A rare genetic disorder that presents with ichthyosis and other systemic features such as intellectual disability and heart defects.
• Multiple congenital anomalies (MCA): A condition where multiple birth defects occur simultaneously.

These conditions can be distinguished from ARCI based on their clinical presentation, genetic causes, and associated systemic features. For example, ichthyosis vulgaris typically presents with fine scales on the legs and arms, whereas ARCI is characterized by large scales covering the entire body [6][8].

In addition to these differential diagnoses, it's also worth noting that ARCI can be distinguished from other forms of ichthyosis based on its genetic causes. For example, mutations in the ABCA12 gene are associated with Harlequin ichthyosis (HI), a rare and severe form of ARCI [2].