autosomal recessive congenital ichthyosis 14

Autosomal Recessive Congenital Ichthyosis 14 (ARCI14) is a rare disorder of keratinization that affects the skin, causing it to become abnormally scaled over the body. This condition presents as either lamellar ichthyosis or non-bullous congenital ichthyosiform erythroderma, with potential overlap in phenotypes.

In individuals with ARCI14, the skin scaling can be severe and widespread, covering large areas of the body. The palms and soles are often severely thickened, leading to painful fissures and digital contractures. In some cases, ectropion (drooping eyelids) and eclabium (enlarged ears) may also occur.

ARCI14 is a genetic disorder caused by mutations in the SULT2B1 gene on chromosome 19q13. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition.

The symptoms and characteristics of ARCI14 can vary widely among affected individuals, but they often include:

• Abnormal skin scaling over large areas of the body
• Severe thickening of the palms and soles
• Painful fissures and digital contractures
• Potential overlap with other phenotypes, such as lamellar ichthyosis or non-bullous congenital ichthyosiform erythroderma

It's worth noting that ARCI14 is a rare condition, and more research is needed to fully understand its characteristics and implications. However, early recognition and management of the condition can help improve outcomes for affected individuals.

References:

• [1] The condition presents as either lamellar ichthyosis or non-bullous congenital ichthyosiform erythroderma, with potential overlap in phenotypes.
• [4] Ichthyosis, congenital, autosomal recessive 14 is a disorder of keratinization resulting in abnormal skin scaling over the body. It presents as lamellar ichthyosis or non-bullous congenital ichthyosiform erythroderma, with potential overlap in phenotypes.
• [5] Apr 20, 2023 — Palms and soles are often severely thickened (palmoplantar keratoderma), with painful fissures and digital contractures. Ectropion, eclabium, ...
• [6] Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling ...

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

• Skin Scaling: ARCI is characterized by abnormal skin scaling, which can range from mild to severe [5].
• Excessive Dry Scales: The presence of excessive amounts of dry surface scales on the skin is a hallmark symptom of ichthyosis, including ARCI [6].
• Large Scales: A rare form of ARCI is characterized by the presence of large scales all over the body without significant erythroderma [7].
• Nonsyndromic Forms: ARCI refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis, meaning they are not associated with other syndromes or conditions [8].

In addition to these primary symptoms, individuals with severe involvement of ARCI may also experience:

• Ectropion and Eclabium: Drooping eyelids (ectropion) and ear deformities (eclabium) can occur in some cases [3].
• Scarring Alopecia: Affected individuals may develop scarring alopecia involving the scalp and eyebrows, as well as loss of lashes [4].
• Palmoplantar Keratoderma: Thickening of the skin on the palms and soles (palmoplantar keratoderma) can occur, with painful fissures and digital contractures [1].

These symptoms can vary in severity and may be accompanied by other clinical features such as failure to thrive, short stature, malformed ears and digits, nail deformities, and more [9].

Autosomal Recessive Congenital Ichthyosis (ARCI) 10, also known as Lamellar Ichthyosis, is a rare genetic disorder that affects the skin's ability to produce natural moisturizing factors. Diagnostic tests for ARCI 14 are crucial in confirming the condition and ruling out other possible causes of similar symptoms.

Diagnostic Tests:

• Clinical Examination: A thorough physical examination by a dermatologist or pediatrician is essential in diagnosing ARCI 14. The doctor will look for characteristic skin features such as thick, plate-like scales, and dry, cracked skin.
• Light and Electron Microscopic Studies: These studies can help confirm the diagnosis by examining the structure of the skin's outer layer (epidermis) under a microscope [5].
• Biochemical Studies: Enzyme assays and substrate analysis can also be used to diagnose ARCI 14 by measuring the levels of certain enzymes and substrates in the skin [5].
• Genetic Testing: Genetic testing is available for some forms of ichthyosis, including ARCI 10. This test can identify mutations in specific genes associated with the condition [2][4].

Laboratory Work-up:

A laboratory work-up should include a liver function test to rule out any underlying liver issues that may be contributing to the skin symptoms [7].

Based on the available information, it appears that there are various treatment options for autosomal recessive congenital ichthyosis (ARCI), but no specific approved treatments have been mentioned.

• Topical retinoids and biologics may be explored as potential treatment options [5].
• Enzyme replacement therapy and gene therapy have shown promising developments in treating ARCI, although more research is needed [4].
• N-acetylcysteine has been studied as a potential treatment for lamellar ichthyosis, which is a type of ARCI [6].

It's worth noting that the available information suggests that there are no approved treatments specifically for ARCI. However, researchers and scientists are actively exploring various treatment options to address this condition.

References: [4] by MDW Joosten · 2022 · Cited by 49 [5] by E Lilly · 2023 · Cited by 13 [6] by DS Chulpanova · 2022 · Cited by 23

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 several other conditions that present with similar symptoms.

Conditions to Consider:

• Ichthyosis Vulgaris: A common form of ichthyosis that presents with dry, scaly skin. It is often inherited in an autosomal dominant pattern.
• Autosomal Recessive Congenital Ichthyosis (ARCI): A rare disorder characterized by large scales covering the body without significant erythroderma.
• Syndromic RLXI: A rare genetic disorder that presents with ichthyosis and other systemic features.
• Multiple Congenital Anomalies: A condition where multiple congenital anomalies are present, including ichthyosis.

Genetic Mutations:

The TGM1 gene was found to be mutated in 68.7% of the cases of ARCI, while the ALOXE3 gene was mutated in just 1 patient [3]. Other genes such as CARD14 were also implicated in some cases [2].

References:

• Rodríguez-Pazos, L. (2013). Autosomal recessive congenital ichthyosis. Journal of Dermatology, 40(5), 341-346.
• Peña-Corona, SI. (2023). Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. Journal of Dermatological Treatment, 34(2), 241-245.

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