autosomal recessive congenital ichthyosis 10

Autosomal Recessive Congenital Ichthyosis 10 (ARCI10) is a rare genetic disorder that affects the skin's ability to produce and maintain its natural barrier function.

• Causes: ARCI10 is caused by mutations in the PNPLA1 gene, which plays a crucial role in the production of lipids essential for maintaining healthy skin. The mutation leads to abnormal skin scaling and other symptoms.
• Inheritance pattern: As the name suggests, ARCI10 follows an autosomal recessive inheritance pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

According to search result [4], ARCI10 is caused by homozygous or compound heterozygous mutation in the PNPLA1 gene on chromosome 6p21. This genetic defect disrupts the normal functioning of the skin, resulting in the characteristic symptoms of ARCI10.

It's worth noting that ARCI10 is a rare and specific subtype of autosomal recessive congenital ichthyosis (ARCI), which encompasses a broader group of disorders with similar characteristics [5][6][7].

Based on the provided context, here are the signs and symptoms of autosomal recessive congenital ichthyosis:

• Severe skin thickening: The palms and soles are often severely thickened (palmoplantar keratoderma), with painful fissures and digital contractures [3].
• Ectropion and eclabium: Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis [8].
• Scalp and eyebrow involvement: Scarring alopecia involving the scalp and eyebrows can occur in individuals with severe involvement [1].
• Skin appearance: The skin may have a shellacked appearance, being taut, dark, and split [6].
• Generalized scaling: Generalized scaling accompanied by a more or less severe erythroderma (redness of the skin) is characteristic of autosomal recessive congenital ichthyosis [7].

These symptoms can vary in severity and may be present at birth. It's essential to note that autosomal recessive congenital ichthyosis is a rare genetic disorder, and these signs and symptoms may not be present in all individuals affected by the condition.

References: [1] Context result 1 [3] Context result 3 [6] Context result 6 [7] Context result 7 [8] Context result 8

Diagnostic Tests for Autosomal Recessive Congenital Ichthyosis 10

Autosomal recessive congenital ichthyosis

Based on the provided context, here are some potential treatment options for autosomal recessive congenital ichthyosis:

• Topical treatments are a first-choice strategy due to their ease of application and cost [1]. However, enteral administration of retinoids offers an alternative option.
• Enzyme replacement therapy is being considered as one of the treatments for ichthyosis [2].
• Skin barrier repair formulas containing ceramides or cholesterol, moisturizers with petrolatum or lanolin, and emollients containing 2–10% urea are used to treat lamellar ichthyosis, which is a type of autosomal recessive congenital ichthyosis [3][5].
• Acitretin, a retinoid, is approved by the European Medical Agency (EMA) for treating ichthyosis and usually dosages of 0.5 mg/kg/day are sufficient [6].
• N-acetylcysteine, together with urea, has shown good results in the treatment of children with lamellar ichthyosis [7].
• A novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar ichthyosis [8].

It's worth noting that each individual may respond differently to these treatments, and a healthcare professional should be consulted for personalized advice.

References: [1] by SI Peña-Corona · 2023 [2] by E Lilly · 2023 [3] [5] [6] [7] by DS Chulpanova · 2022 [8] by DF Murrell · 2023

The differential diagnosis for autosomal recessive congenital ichthyosis (ARCI) includes several conditions that can present with similar symptoms.

• Syndromic forms of ichthyosis, such as:
  • Recessive X-linked ichthyosis: This condition is caused by mutations in the STS gene and presents with a similar scaling pattern to ARCI [3].
  • Semidominant ichthyosis vulgaris: This condition is characterized by a mild scaling disorder that can be confused with ARCI, especially in its early stages [3].
• CIE (Congenital Ichthyosiform Erythroderma): This rare condition presents with generalized scaling and erythroderma, similar to some forms of ARCI [6].

It's essential to note that a proper diagnosis of ARCI requires a comprehensive evaluation, including clinical examination, family history, and genetic testing. A differential diagnosis is crucial in distinguishing ARCI from other conditions that may present with similar symptoms.

References: [3] - Context result 3 [6] - Context result 6