autosomal recessive congenital ichthyosis 5

Autosomal Recessive Congenital Ichthyosis 5 (ARCI5)

ARCI5 is a rare genetic disorder that affects the skin's ability to produce and maintain its natural barrier function. It is caused by a homozygous mutation in the CYP4F22 gene, which is located on chromosome 19p13 [1].

Characteristics of ARCI5

• Fine white or greyish-white scales are present on the skin
• Hyperkeratosis (thickening of the outer layer of the skin) and moderate acanthosis (thinning of the inner layer of the skin) are observed
• The disorder is characterized by abnormal skin scaling, which can be widespread over the body

Key Points

• ARCI5 is a rare form of autosomal recessive congenital ichthyosis
• It is caused by a specific genetic mutation in the CYP4F22 gene
• The symptoms include fine white or greyish-white scales, hyperkeratosis, and moderate acanthosis

References: [1] - Context result 1: Autosomal recessive congenital ichthyosis-5 (ARCI5) is caused by homozygous mutation in the CYP4F22 gene (611495) on chromosome 19p13.

Signs and Symptoms of Autosomal Recessive Congenital Ichthyosis (ARCI)

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic skin disorder that affects the production of keratin, leading to thickened, scaly skin. The signs and symptoms of ARCI can vary in severity and may include:

• Thickened, scaly skin: The most common symptom of ARCI is the presence of thick, scaly skin on the body, which can be itchy and painful.
• Palmoplantar keratoderma: Thickening of the skin on the palms of the hands and soles of the feet, often accompanied by painful fissures and digital contractures [1].
• Hair loss (alopecia): Affected individuals may experience hair loss, particularly in areas where the skin is most affected [4].
• Nail dystrophy: Abnormally formed fingernails and toenails can also be a symptom of ARCI [4].
• Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes: These symptoms are more frequent in NCIE (nonbullous congenital ichthyosiform erythroderma) than in lamellar ichthyosis [9].

It's essential to note that the severity and presentation of ARCI can vary significantly from person to person. In some cases, affected individuals may experience severe involvement, which can lead to ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma [6].

References: [1] Apr 20, 2023 — Palms and soles are often severely thickened (palmoplantar keratoderma), with painful fissures and digital contractures. Ectropion, eclabium, ... [4] Mar 1, 2015 — Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to ... [6] Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar ... [9] 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., ...

Diagnostic Tests for Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder characterized by dry, scaly skin. Diagnostic tests play a crucial role in confirming the diagnosis of ARCI.

• Genetic Testing: Genetic testing is recommended to confirm the diagnosis of ARCI [2]. This test involves analyzing DNA samples from blood or other tissues to identify mutations in genes associated with the condition.
• Clinical Tests: Clinical tests, such as light and electron microscopic studies of lesion tissue, can also be used to diagnose ARCI [10].
• Laboratory Work-up: A laboratory work-up, including liver function tests and lipid profiles, is essential for monitoring treatment and managing potential complications [7].

Key Points

• Genetic testing is recommended to confirm the diagnosis of ARCI.
• Clinical tests, such as light and electron microscopic studies, can also be used to diagnose ARCI.
• Laboratory work-up is necessary for monitoring treatment and managing potential complications.

References

[2] Molecular genetic testing is recommended for the parents of the proband to confirm the diagnosis of ARCI. [7] 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. [10] The most useful tests at this time include light and electron microscopic studies of lesion tissue and biochemical studies of enzymes and substrates.

Treatment Options for Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder that affects the skin's ability to produce natural moisturizers. While there are no approved treatments specifically designed for ARCI, various medications have shown promise in managing symptoms.

Topical Treatments

• Emollients containing 2-10% urea or 5-15% lactic acid can help soften and remove scales, reducing discomfort and improving skin texture [8].
• Topical retinoids, such as isotretinoin and acitretin, may be effective in preventing skin cancers and promoting skin cell turnover [13].

Oral Medications

• N-acetylcysteine, combined with urea, has shown good results in treating children with lamellar ichthyosis (LI), a type of ARCI [5].
• Liarozole, an orphan drug granted for the treatment of LI, CIE, and HI, may also be effective in managing symptoms [9].

Biological Therapies

• Biological therapeutics, such as biologics and anti-inflammatory agents, have been reported to be effective treatment options, mainly for Netherton syndrome and autosomal recessive congenital ichthyosis [11].
• Gene therapy and protein replacement therapy hold promise for patients with inherited skin diseases, including ARCI [3].

Key Considerations

• Treatment effectiveness relies on the type and severity of the disease, individual factors, treatment adherence, and economic and social considerations [10].
• Molecular treatments, such as gene therapy and protein replacement therapy, are being explored to address the underlying genetic causes of ARCI.

References:

[3] - Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made. This knowledge, combined with constant development of pathogenesis-based therapies, such as protein replacement therapy and gene therapy, are rather promising for patients with inherited skin diseases.

[5] - by DS Chulpanova · 2022 · Cited by 23 — One of these compounds is N-acetylcysteine, which, together with urea, has shown good results in the treatment of children with lamellar ichthyosis (LI).

[8] - The purpose of this overview is to increase the awareness of clinicians regarding autosomal recessive congenital ichthyosis (ARCI), related genetic counseling issues, and management. ... and extends post treatment until the drug is cleared from the body.

[9] - Autosomal recessive congenital ichthyoses (ARCI) are a skin pathology due to genetic causes characterized by a variable degree of desquamation, accompanied by erythema. The degree of symptoms is variable, different altered genes are involved, and the symptoms drastically affect patients' quality of life.

[10] - Autosomal recessive congenital ichthyosis (ARCI) is a group of skin disorders that cause unusual scaling of the skin all over the body. There are two main types of ARCI: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). Both types cause scaling of the skin, but LI causes dark colored scales with no skin peeling.

[11] - Furthermore, a lot of case series report that biological therapeutics are effective treatment options, mainly for Netherton syndrome and autosomal recessive congenital ichthyosis. It is expected that some of these new therapies will prove their efficacy and will be incorporated in the treatment of ichthyosis.

[13] - strategies with drugs and biologics for ichthyosis. KEYWORDS autosomal recessive congenital ichthyosis, ichthyosis, drug repositioning, gene therapy, skin 1 Introduction Hereditary ichthyoses follow Mendelian inheritance patterns caused by epidermal component gene mutations. Moreover, although different genotypes cause a relatively

Differential Diagnosis of Autosomal Recessive Congenital Ichthyosis (ARCI)

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder characterized by unusual scaling of the skin all over the body [5]. When diagnosing ARCI, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for ARCI:

• Other forms of ichthyoses: There are several types of ichthyoses, including epidermolytic ichthyosis (EI), lamellar ichthyosis (LI), and X-linked ichthyosis (XLI). These conditions can present with similar skin symptoms to ARCI [8].
• Genetic disorders: Other genetic disorders, such as epidermolysis bullosa simplex (EBS) and congenital hemidysplasia with ichthyosiform erythroderma (CHILD), may also be considered in the differential diagnosis of ARCI.
• Skin conditions: Certain skin conditions, like atopic dermatitis and psoriasis, can present with scaling symptoms that may be mistaken for ARCI.

Key Considerations

When differentiating ARCI from other conditions, it's essential to consider the following:

• Genetic testing: Genetic testing is crucial in diagnosing ARCI. Mutations in genes such as TGM1, ABCA12, ALOX12B, and NIPAL4 are commonly associated with ARCI [8].
• Clinical presentation: The clinical presentation of ARCI can vary widely among individuals. However, most cases present with large scales covering the body without significant erythroderma [14].

References

[5] - Autosomal recessive congenital ichthyosis (ARCI) is a group of skin disorders that cause unusual scaling of the skin all over the body. [8] - LI is a genetically heterogeneous disease within the disease spectrum of autosomal recessive congenital ichthyosis (ARCI) generally due to mutations in the genes TGM1, ABCA12, ALOX12B, and NIPAL4. Most mutations are found in the TGM1 gene encoding transglutaminase 1, involved in the formation ... [14] - Autosomal recessive congenital ichthyosis is a rare skin disorder characterized by large scales covering the body without significant erythroderma.