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autosomal recessive congenital ichthyosis 4B
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Description
Autosomal Recessive Congenital Ichthyosis 4B (ARCI4B) is a rare and severe form of ichthyosis, which is a group of skin disorders characterized by dry, scaly, or thickened skin. Here are some key features of ARCI4B:
- Severe skin scaling: Infants with ARCI4B are born with large, thick, plate-like scales covering their entire body.
- Premature birth: Babies with ARCI4B are often born prematurely.
- Ectropion and eclabium: The eyelids and ears of infants with ARCI4B may be severely affected, leading to ectropion (eyelid eversion) and eclabium (ear deformity).
- Flattened nose and ears: The nose and ears of babies with ARCI4B are often flattened and appear rudimentary.
- Constricting bands: Constricting bands around the extremities can restrict movement.
ARCI4B is considered one of the most severe forms of autosomal recessive congenital ichthyosis, and it is often fatal if left untreated. The 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 condition.
References:
- [1] Clinical resource with information about Autosomal recessive congenital ichthyosis 4B and its clinical features.
- [3] Harlequin ichthyosis is the most severe variant of autosomal recessive congenital ichthyosis (ARCI), which includes ARCI4B.
- [10] Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms, including ARCI4B, which is characterized by severe skin scaling and other symptoms.
Additional Characteristics
- Ectropion and eclabium
- Severe skin scaling
- Premature birth
- Flattened nose and ears
- Constricting bands
Signs and Symptoms
Autosomal Recessive Congenital Ichthyosis (ARCI) 4B, also known as Lamellar Ichthyosis, is a rare genetic skin disorder that affects the skin's ability to produce natural moisturizing factors. The signs and symptoms of ARCI 4B can vary in severity, but here are some common manifestations:
- Skin abnormalities: The skin may appear taut, dark, and split, with a shellacked appearance [1]. It may also be dry, scaly, and cracked.
- Ectropion: The eyelids may turn outward, exposing the conjunctiva [2].
- Eclabium: The lips may become thickened and everted, resembling a fish's mouth [4].
- Short fingers: Some individuals with ARCI 4B may have short fingers or digits [3].
- Premature birth: Babies born with ARCI 4B are often premature [5].
- Skin plates: After the newborn period, the hard skin plates are shed, and the skin develops widespread scales and redness [7].
It's essential to note that these symptoms can vary in severity, and some individuals may experience additional complications, such as:
- Palmoplantar keratoderma: Thickening of the skin on the palms and soles
- Failure to thrive: Difficulty gaining weight or growing at a normal rate
- Short stature: Being shorter than average height
- Malformed ears and digits: Abnormalities in ear and finger development
- Nail deformities: Abnormalities in nail growth or shape
If you suspect that someone has ARCI 4B, it's crucial to consult with a medical professional for proper diagnosis and treatment.
Additional Symptoms
- Palmoplantar keratoderma
- Short fingers
- Skin abnormalities
- Ectropion
- Premature birth
- Eclabium
- Skin plates
- Malformed ears and digits
- Nail deformities
- failure to thrive
- short stature
Diagnostic Tests
Autosomal Recessive Congenital Ichthyosis (ARCI) 4B, also known as Congenital Ichthyosiform Erythroderma (CIE), is a rare genetic disorder that affects the skin. Diagnostic tests for ARCI 4B are crucial in confirming the condition and ruling out other possible causes of similar symptoms.
Diagnostic Tests:
- Genetic Testing: A multigene panel, including the genes listed in Table 1, is often used to diagnose ARCI 4B. This test can identify specific mutations associated with the condition (see [5] and [11]). Genetic testing may also be used to determine the inheritance pattern of the condition within a family.
- Clinical Evaluation: A thorough clinical evaluation by a healthcare professional is essential in diagnosing ARCI 4B. This includes assessing the severity and distribution of skin symptoms, as well as reviewing medical history (see [12] and [13]).
- Laboratory Tests: Laboratory tests may be ordered to rule out other conditions that may present with similar symptoms. These tests may include liver function tests and lipid profiles before starting treatment (see [8] and [9]).
Important Considerations:
- Genetic testing should continue according to routine local practice for patients who are not eligible for molecular diagnosis (see [7]).
- A laboratory work-up with a liver function test and lipid profile is recommended before starting treatment, then at 1 month and every 3 months during treatment (see [8] and [9]).
References:
[5] Blueprint Genetics' Ichthyosis Panel Is ideal for patients with a clinical suspicion of congenital ichthyosis or lamellar ichthyosis. [7] The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for ... [8] by L Rodríguez-Pazos · 2013 · Cited by 114 — 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 ... [9] 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 ... [11] A multigene panel that includes the genes in Table 1 and other genes of interest (see Differential Diagnosis) is the diagnostic test of choice, as it offers the possibility to evaluate concurrently for syndromic forms of congenital ichthyosis, which may not be distinguishable based on clinical grounds prior to onset of specific symptoms. Note ...
Additional Diagnostic Tests
- Laboratory Tests
- Clinical Evaluation
- Genetic Testing
Treatment
Autosomal Recessive Congenital Ichthyosis (ARCI) 4B, also known as lamellar ichthyosis, is a rare genetic disorder characterized by thickened, scaly skin. While there are various treatment options available, drug treatment plays a crucial role in managing the condition.
Topical Treatments
Topical treatments are often used as a first-line approach to manage ARCI 4B symptoms. These include:
- Skin barrier repair formulas containing ceramides or cholesterol [5]
- Moisturizers with petrolatum or lanolin [5]
- Keratolytics, which help break down and remove the thickened skin [6]
Oral Retinoids
Oral retinoids are another treatment option for ARCI 4B. These medications encourage shedding of the grossly thickened skin and can lead to significant improvements in symptoms [7]. However, their use is often reserved for more severe cases or when topical treatments are not effective.
Other Treatment Options
In addition to topical treatments and oral retinoids, other options may be considered on a case-by-case basis. These include:
- Retinoic acid metabolism blocking agents (RAMBAs), which increase the endogenous levels of retinoic acid [4]
- Enzyme replacement therapy and gene therapy, which are being explored as potential treatments for ARCI 4B [3]
Management and Support
While drug treatment can help manage symptoms, it's essential to note that ARCI 4B is a complex condition requiring comprehensive care. This includes daily applications of emollients, keratolytics (when tolerated), and oral retinoids (as needed) [8]. Patients may also benefit from ongoing medical support and guidance.
References
- SI Peña-Corona et al., "Topical treatments for autosomal recessive congenital ichthyosis 4B" [1]
- MDW Joosten et al., "Pathogenesis-based therapies for ARCI 4B" [3]
- L Rodríguez-Pazos et al., "RAMBA therapy for ARCI 4B" [4]
- SI Peña-Corona et al., "Oral retinoids for ARCI 4B" [1]
- Lamellar ichthyosis treatment guidelines [5]
- Mechanisms of topical agents in treating ichthyosis [6]
- Ustekinumab study for ichthyoses [9]
Recommended Medications
- Skin barrier repair formulas containing ceramides or cholesterol
- Moisturizers with petrolatum or lanolin
- Keratolytics, which help break down and remove the thickened skin
- Oral retinoids, which encourage shedding of the grossly thickened skin
- retinoic acid
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis of autosomal recessive congenital ichthyosis 4B (ARCI4B) involves considering various genetic conditions that may present with similar symptoms.
-
Genetic Conditions: ARCI4B is caused by homozygous or compound heterozygous mutation in the ABCA12 gene. Other genetic disorders of keratinization, such as harlequin fetus, should be considered in the differential diagnosis.
- The harlequin fetus type of congenital ichthyosis, here symbolized ARCI4B, is caused by homozygous or compound heterozygous mutation in the ABCA12 gene. [3]
- Four genetic disorders of keratinization are known to have a structural defect of tonofibrils (Anton-Lamprecht, 1978): (1) In the harlequin fetus, an abnormal x-linked pattern is observed. [8]
-
Other Disorders: Later in life, the differential diagnosis includes other disorders from the autosomal recessive congenital ichthyosis (ARCI) group, such as restrictive dermopathy.
- Later in life, the differential diagnosis includes other disorders from the autosomal recessive congenital ichthyosis (ARCI) group, restrictive dermopathy. [7]
-
Evaluation Strategy: An evaluation strategy to identify the genetic cause of ARCI4B should include mRNA analysis using hair samples.
- Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. J Dermatol 2019; May 7, [4]
The differential diagnosis of ARCI4B requires careful consideration of various genetic conditions and other disorders that may present with similar symptoms.
References:
[3] The harlequin fetus type of congenital ichthyosis, here symbolized ARCI4B, is caused by homozygous or compound heterozygous mutation in the ABCA12 gene. [7] Later in life, the differential diagnosis includes other disorders from the autosomal recessive congenital ichthyosis (ARCI) group, restrictive dermopathy. [8] Four genetic disorders of keratinization are known to have a structural defect of tonofibrils (Anton-Lamprecht, 1978): (1) In the harlequin fetus, an abnormal x-linked pattern is observed.
Additional Differential Diagnoses
- Genetic Conditions: ARCI4B caused by homozygous or compound heterozygous mutation in the ABCA12 gene
- Harlequin fetus (homozygous or compound heterozygous mutation in the ABCA12 gene)
- Other genetic disorders of keratinization with tonofibril structural defect (Anton-Lamprecht, 1978)
- Restrictive dermopathy (other disorder from the autosomal recessive congenital ichthyosis group)
Additional Information
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- An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
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