autosomal recessive congenital ichthyosis 7

Autosomal Recessive Congenital Ichthyosis (ARCI)

Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This condition is characterized by abnormal skin scaling over the whole body, which can lead to various symptoms and complications.

Key Features:

• Abnormal skin scaling over the entire body
• Rare disorders of keratinization
• Classified as nonsyndromic forms of ichthyosis

According to [7], ARCI is a group of rare disorders that affect the skin's ability to produce normal skin cells, leading to abnormal scaling. This condition can have significant impacts on an individual's quality of life.

References:

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

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare genetic skin disorder that presents at birth. The signs and symptoms of ARCI can vary in severity, but they often include:

• Taut, dark, and split skin: Newborns with ARCI may have skin that appears shellacked or has a characteristic "shell" appearance [6].
• Ectropion: Eversion of the eyelids, which can cause the eyes to appear prominent or bulging [1][4].
• Eclabium: Eversion of the lips, which can cause them to appear split or cracked [6].
• Palmoplantar keratoderma: Thickening of the skin on the palms and soles, which can lead to cracking and splitting [4].
• Limited movement of arms and legs: Restricted mobility due to the thickened skin and associated joint stiffness [8].

It's worth noting that ARCI is a rare disorder, and not all individuals with the condition will exhibit all of these symptoms. The severity and presentation of ARCI can vary significantly from one individual to another.

References: [1] Context result 1 [4] Context result 4 [6] Context result 6 [8] Context result 8

Autosomal Recessive Congenital Ichthyosis (ARCI) Type 7, also known as Lamellar Ichthyosis, is a rare genetic disorder characterized by the presence of large scales all over the body without significant erythroderma.

Diagnostic Tests:

• Genetic testing of the blood to confirm mutations in the gene associated with ARCI Type 7.
• Molecular genetics tests such as deletion/duplication analysis, targeted variant analysis, and sequence analysis of the entire coding region can be used to identify the genetic cause of the condition [2][4].
• Light and electron microscopic studies of lesionai tissue can also be performed to confirm the diagnosis.

Genes associated with ARCI Type 7:

• The gene CYP4F22 is associated with Autosomal Recessive Congenital Ichthyosis, specifically Type 7 [9].

It's worth noting that a molecular diagnosis has been established in some cases, and molecular genetic testing is recommended for the parents of the proband to confirm the presence of mutations in the affected gene [1].

Treatment Options for Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic skin disorder that affects the production of lipids in the skin. While there are no FDA-approved treatments specifically for ARCI, various drug therapies have shown promise in managing its symptoms.

Topical Treatments

While not explicitly mentioned in the context, topical treatments such as moisturizers and keratolytic agents can help manage dryness and scaling associated with ARCI [6].

Systemic Retinoid Treatment

One treatment option for ARCI is systemic retinoid therapy. However, this approach may have limitations due to potential side effects and the need for long-term administration [5].

Enzyme Replacement Therapy (ERT)

Promising developments have been made in pathogenesis-based therapies, such as ERT, which can help restore normal lipid production in the skin [3]. This treatment option is still under investigation.

Gene Therapy

Another potential therapeutic approach for ARCI is gene therapy. By correcting the genetic defect responsible for the condition, this treatment aims to restore normal lipid production and improve skin health [3].

Other Therapeutic Options

N-acetylcysteine, in combination with urea, has shown good results in treating children with lamellar ichthyosis, a subtype of ARCI [8]. Additionally, liarozole, an orphan drug granted status for the treatment of LI, CIE, and HI, may also be considered for ARCI patients.

Current Status

While these treatments hold promise, it's essential to note that there are no FDA-approved treatments specifically for ARCI. Researchers continue to explore new therapeutic options, and further studies are needed to determine their efficacy and safety [4].

References: [3] by MDW Joosten · 2022 · Cited by 48 [5] by L Rodríguez-Pazos · 2013 · Cited by 114 [6] Three important mechanisms are involved in the action of topical agents used in the treatment of ichthyosis: hydration, lubrication and keratolysis. [7] Aug 10, 2020 — Lamellar ichthyosis (LI) is a rare genetic skin disorder that is present at birth. It is one of three genetic skin disorders called autosomal recessive ... [8] by DS Chulpanova · 2022 · Cited by 23

Differential Diagnoses for Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) can be challenging to diagnose due to its rarity and overlapping symptoms with other skin conditions. The differential diagnosis of ARCI includes several genetic disorders that present with ichthyosis at birth.

• Verrucae vulgares: This condition also shows vacuolated cells, but in KID/HID syndrome, these persist in the stratum corneum. Vacuolization is absent in ARCI.
• Ichthyosis vulgaris (I. vulgaris or IV): A common form of ichthyosis that presents with dry, scaly skin, often on the lower extremities.
• X-linked ichthyosis: A rare genetic disorder that affects males and presents with scaling skin, similar to ARCI