autosomal recessive congenital ichthyosis

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

Autosomal recessive congenital ichthyosis (ARCI) is a rare group of disorders that affect the skin, characterized by abnormal scaling and desquamation. This condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Key Features:

• Abnormal Skin Scaling: ARCI is primarily marked by excessive skin scaling, which can range from mild to severe.
• Desquamation: The condition is also characterized by desquamation, a process where the outer layer of the skin sheds or peels off.
• Variable Severity: The severity of ARCI can vary greatly among affected individuals, with some experiencing mild symptoms and others having more severe manifestations.

Causes and Inheritance:

• Genetic Causes: ARCI is caused by mutations in genes responsible for keratinization, a process that helps maintain the integrity of the skin.
• Autosomal Recessive Pattern: The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene to develop the disorder.

References:

• [1] Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. [Source 3]
• Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the body. [Source 5]
• The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. [Source 6]

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare genetic skin disorder that affects newborns. The main symptoms of ARCI include:

• Very dry, scaly skin: The skin may be thick and rough, covering large areas of the body including the arms, legs, and torso [5].
• Giant scales: Large scales cover most of the body, which can crack and split apart [6].
• Decreased ability to sweat: This can cause sensitivity to heat [6].
• Hair loss: Affected individuals may experience hair loss (alopecia) [7].
• Abnormal fingernails and toenails: The nails may be abnormally formed or dystrophic [7].

These symptoms are typically present at birth or early infancy, and the condition is characterized by a lifelong scaling of the skin. In some cases, ARCI can be severe and even life-threatening.

References:

[5] - The main symptom of ichthyosis is very dry, scaly skin that may also be thick and rough. [6] - Symptoms · Giant scales that cover most of the body · Decreased ability to sweat, causing sensitivity to heat · Hair loss · Abnormal finger and toenails · Skin of ... [7] - Mar 1, 2015 — Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to ...

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

• Genetic testing: This is a recommended test to confirm the diagnosis in individuals with a molecular diagnosis established in their proband. It involves testing the parents of the proband to confirm the presence of the disease-causing gene mutation [2].
• Skin biopsy: A skin biopsy can be used to diagnose ARCI, particularly in cases where the condition is suspected based on clinical findings [14].
• Serum cholesterol sulfate: This test can also be used as a diagnostic tool for ARCI [14].
• Lipoprotein electrophoresis: Another test that can be ordered to help diagnose ARCI [14].
• Steroid sulfatase activity: This enzyme activity test can also be used to aid in the diagnosis of ARCI [14].

Additionally, genetic testing can identify the specific gene mutations responsible for ARCI. The genes most commonly associated with ARCI include:

• TGM1 (transglutaminase 1): Mutations in this gene are found in many cases of ARCI [12].
• ATP-binding cassette sub-family A: Mutations in this gene have also been reported in some cases of AR

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare genetic disorder characterized by severe skin dryness and scaling. While there are no FDA-approved treatments for ARCI, various medications have been explored to manage its symptoms.

Topical Treatments

• Topical steroids, such as cortisone creams, can help reduce inflammation and itching.
• Topical calcineurin inhibitors, like tacrolimus ointment, may also be used to alleviate skin symptoms.
• Narrow band UVB phototherapy has been shown to improve skin condition in some patients.

Oral Medications

• Acitretin is often considered the drug of choice due to its shorter plasma half-life, which reduces side effects. Prior to its introduction, mortality rates were around 70% in severe cases.
• Ustekinumab, imsidolimab, and secukinumab are currently being investigated in clinical trials for their potential use in treating ichthyosis patients.

Gene Therapy

• Topical KB105 gene therapy has been explored as a treatment option for TGM1-deficient autosomal recessive congenital ichthyosis (ARCI).

It's essential to note that individualized treatment plans are often necessary, taking into account the specific type of ichthyosis and personal preferences. Consultation with a healthcare professional is recommended to determine the most suitable course of treatment.

References:

• [1] by SI Peña-Corona · 2023 · Cited by 1 — Especially the use of ustekinumab, imsidolimab, secukinumab is in phases of clinical trials with ichthyosis patients.
• [2] by E Lilly · 2023 · Cited by 13 — These conditions can be treated using topical steroids, topical calcineurin inhibitors, narrow band UVB phototherapy, and dupilumab.
• [8] Acitretin is the drug of choice because of its shorter plasma half-life, which reduces side effects. Prior to its introduction, mortality was around 70% in the ...
• [9] by AS Paller · Cited by 2 — RELATED TOPICS. Autosomal recessive congenital ichthyoses ... Treatment is individualized according to ichthyosis type and personal preference.
• [5] Jun 27, 2023 — Currently, there are no FDA-approved treatments for ichthyosis; however, we are hopeful that this may change in the near future,” Mohamad

Differential Diagnosis of Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder characterized by the presence of excessive amounts of dry surface scales on the skin. The differential diagnosis of ARCI includes several other conditions that present with similar symptoms.

Conditions to Consider:

• Ichthyosis Vulgaris: This is the most common form of ichthyosis, inherited in an autosomal semidominant pattern. It typically presents with dry skin or light gray fine scales as well as palmoplantar hyperlinearity.
• Recessive X-linked Ichthyosis: This condition mainly affects males and is caused by a loss-of-function mutation in the STS gene. Females are protected by having a normal second X chromosome.
• Syndromic Forms of Ichthyosis: These include conditions such as lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis, which are all part of the autosomal recessive congenital ichthyoses (ARCI) spectrum.
• Self-improving Collodion Ichthyosis: This is a milder form of ARCI that typically presents with moderate degrees of erythema and scaling.

Key Points to Consider:

• The differential diagnosis of ARCI includes several other conditions that present with similar symptoms, making accurate diagnosis crucial for proper management.
• Genetic analysis using hair samples can be a powerful tool for diagnosing ARCI.
• The severity and presentation of ARCI can vary widely among individuals, ranging from severe and life-threatening to milder forms.

References:

• [5] Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. (Context 5)
• [6] Differential diagnosis includes ichthyosis vulgaris, autosomal recessive congenital ichthyosis (ARCI), namely lamellar ichthyosis, syndromic RLXI, or multiple other conditions. (Context 6)
• [9] Autosomal recessive congenital ichthyoses (ARCI) are lifelong skin disorders with generalized scaling and variable erythema that typically manifest at birth or shortly thereafter. (Context 9)
• [10] The differential diagnosis of autosomal recessive congenital ichthyosis (ARCI) includes the disorders summarized in Table 2