obsolete congenital ichthyosiform erythroderma

Obsolete Congenital Ichthyosiform Erythroderma: A Rare Skin Condition

Obsolete congenital ichthyosiform erythroderma, also known as lamellar ichthyosis, is a rare and severe form of ichthyosis that affects the skin. It is characterized by:

• Generalized scaling: The condition causes widespread scaling of the skin, which can be fine or thick in texture.
• Erythroderma: A more or less severe erythroderma (redness) of the skin is also present.
• No blistering: Unlike some other forms of ichthyosis, obsolete congenital ichthyosiform erythroderma does not involve blistering.

This condition is considered obsolete because it has been replaced by more specific and accurate terms such as non-bullous congenital ichthyosiform erythroderma (NBCIE) or congenital ichthyosiform erythroderma (CIE). However, the term "obsolete congenital ichthyosiform erythroderma" is still used in some medical literature to refer to this condition.

References:

• [15] DOID:1699; Synonyms: lamellar ichthyosis
• [14] A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister.

Signs and Symptoms of Congenital Ichthyosiform Erythroderma

Congenital ichthyosiform erythroderma, also known as CIE, is a rare genetic disorder that affects the skin. The signs and symptoms of this condition can vary in severity and presentation, but here are some common manifestations:

• Bright Red Skin (Erythroderma): The skin appears bright red and has accompanying fine white or flesh-colored scales [1][3].
• Dry Eyes: Individuals with CIE may experience dry eyes due to the thick layers of skin clogging the sweat glands [2].
• Difficulty Sweating: Thick layers of skin can also cause difficulty sweating, leading to heat intolerance [6].
• Fragile Skin: The skin is fragile and prone to cracking easily and frequently [2].
• Fine White or Grey Scaling: A generalized fine white or grey scaling is usually present in addition to the erythroderma [11][13].

In some cases, individuals with CIE may also experience:

• Ectropion: Eversion of the eyelids
• Hypohidrosis: Reduced sweating
• Alopecia: Hair loss

It's essential to note that these symptoms can vary in severity and presentation from one individual to another. If you suspect someone has congenital ichthyosiform erythroderma, it is crucial to consult a medical professional for proper diagnosis and treatment.

References:

[1] Apr 19, 2020 — The skin appears bright red (erythroderma) and has accompanying fine white or flesh coloured scales. [2] What are the Signs & Symptoms? · Dry eyes · Difficulty sweating because thick layers of skin clog the sweat glands · Fragile skin that cracks easily and frequently [3] Mar 2, 2020 — The skin appears bright red (erythroderma) and has accompanying fine white or flesh coloured scales. [6] The more severe forms are frequently associated with erythema, palmo-plantar keratoderma, ectropion, hypohidrosis with heat intolerance, and alopecia. Some ... [11] Congenital ichthyosiform erythroderma is an autosomal recessive genetic disorder. [13] Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine ...

Diagnostic Tests for Obsolete Congenital Ichthyosiform Erythroderma

Congenital ichthyosiform erythroderma (CIE) is a rare skin disorder characterized by dry, scaly, or thickened skin. While it's considered obsolete in modern medical practice, understanding its diagnostic tests can provide valuable insights into the condition.

Skin Biopsy A skin biopsy was once a helpful diagnostic tool to identify the underlying etiology of CIE. However, diagnostic cutaneous features may be masked by nonspecific symptoms [7]. This method is no longer widely used due to advancements in genetic testing and other diagnostic techniques.

Genetic Testing Genetic testing has become the standard of care for diagnosing congenital ichthyoses, including CIE. This test can identify mutations in various genes associated with the condition, such as transglutaminase 1 (TGM1), 12R-lipoxygenase (ALOX12B), and lipoxygenase-3 (ALOXE3) [12].

Other Diagnostic Tests In the past, other diagnostic tests were used to diagnose CIE, including:

• Blood tests: These could be taken and sent to a national laboratory for analysis.
• Clinical examination: A dermatologist would examine the skin to look for characteristic features of CIE.

However, these methods are no longer considered reliable or necessary due to the advancements in genetic testing.

Current Diagnostic Practice In modern medical practice, diagnostic tests for congenital ichthyoses have evolved significantly. Genetic testing is now the primary method used to diagnose these conditions, and it provides a more accurate and timely diagnosis [11].

References:

[7] - The skin biopsy is a helpful diagnostic tool to identify the underlying etiology. However, diagnostic cutaneous features may be masked by nonspecific symptoms. [12] - Diagnostic Tests: genetic testing of the blood: Abnormal Gene: mutations have been identified in a variety of genes including transglutaminase 1 (TGM1), 12R-lipoxygenase (ALOX12B), lipoxygenase-3 (ALOXE3) [11] - Given the rapidity and decreased cost of genetic testing, the standard of care as soon as pathology is detected is genetic testing in order to allow for timely disease-specific management.

Treatment Options for Congenital Ichthyosiform Erythroderma (CIE)

Congenital ichthyosiform erythroderma, also known as lamellar ichthyosis or CIE, is a rare and severe form of ichthyosis. While there are no FDA-approved treatments specifically for CIE, various medications have been used to manage its symptoms.

Retinoids

• Retinoids, synthetic vitamin A derivatives, have been shown to be effective in reducing scaling, discomfort, and disfigurement associated with CIE.
  • Etretinate (1 mg/kg/d) and isotretinoin (2 mg/kg/d) have been used to treat CIE, although their use may be limited due to potential side effects [3][5].
• Acitretin (25-50 mg/d) has also been used to manage CIE symptoms, with some studies suggesting its effectiveness in reducing scaling and discomfort [1].

Other Medications

• Alitretinoin has been suggested as a suitable treatment option for hereditary ichthyosis with prominent erythema, particularly for women of childbearing age [2][10].
• Corticosteroids, such as oral corticosteroids, have been used to treat CIE symptoms, although their effectiveness may be limited in some cases [5].

Emerging Therapies

• Dupilumab has been reported to help improve pruritus (itching) in pediatric patients with CIE, although further research is needed to confirm its clinical efficacy [8].
• Therapy for CIE also relies on the use of bland emollients and a liberal prescription of antiseptics and antibiotics to prevent bacterial infection [9].

References

[1] May 9, 2023 — Acitretin (25-50 mg/d) and Isotretinoin (0.5-2 mg/kg/d) have been shown to reduce scaling, discomfort, and disfigurement.

[2] Apr 4, 2018 — Alitretinoin may be suitable for hereditary ichthyosis with prominent erythema, especially for women of childbearing age.

[3] May 9, 2023 — Etretinate (1 mg/kg/d) and isotretinoin (2 mg/kg/d) have been shown to reduce scaling, discomfort, and disfigurement. However, when these drugs ...

[4] by JJ DiGiovanna · 2013 · Cited by 141 — Acetretin, isotretinoin and, in the past etretinate, have provided the most effective therapy for ichthyosiform conditions.

[5] by C Live — By age 5, there was minimal improvement with oral corticosteroids, isotretinoin, cyclosporine, methotrexate, adalimumab, photopheresis, dapsone, or anakinra.

[6] by N Almuhanna · 2023 · Cited by 2 — It presents as a treatment challenge because there is no treatment currently available that has been approved by the Food and Drug Administration (FDA) for ...

[7] Apr 19, 2020 — Oral treatment (tablets) may be needed in severe ichthyosis. A group of drugs known as retinoids (synthetic vitamin A derivatives) are sometimes ...

[8] by N Almuhanna · 2023 · Cited by 2 — Our case report suggests that dupilumab helps improve pruritus in pediatric patients with BCIE. However, additional research on the clinical efficacy of ...

[9] Therapy of EHK also relies on the use of bland emollients and a liberal prescription of antiseptics and antibiotics to prevent bacterial infection. Only ...

[10] by G Onnis · 2018 · Cited by 22 — Alitretinoin may be suitable for hereditary ichthyosis with prominent erythema, especially for women of childbearing age.

Based on the provided context, it appears that differential diagnosis for congenital ichthyosiform erythroderma (CIE) includes several conditions.

• Bullous Congenital Ichthyosiform Erythroderma: This condition is mentioned in search result 8 as a differential diagnosis for ichthyosis hystrix. It shares similarities with CIE, making it a potential consideration.
• Severe Atopic Dermatitis: Search result 9 mentions severe atopic dermatitis as a clinical differential diagnosis for CIE. This suggests that the symptoms of CIE may be similar to those experienced in severe cases of atopic dermatitis.
• Erythrodermic Psoriasis: Another condition mentioned in search result 9 is erythrodermic psoriasis, which can present with symptoms similar to CIE, such as redness and scaling of the skin.
• Congenital Ichthyosiform Erythroderma (CIE): Interestingly, search result 12 mentions that CIE may be a differential diagnosis for itself, particularly in cases where the condition presents with collodion baby symptoms. This highlights the complexity of diagnosing CIE and the need for careful consideration of other potential conditions.
• Lamellar Ichthyosis (LI): Search results 12 and 13 mention LI as a differential diagnosis for CIE. Given that both conditions are caused by similar genetic defects, they may be considered part of a spectrum rather than distinct entities.

It's essential to note that these differential diagnoses are not exhaustive and that a comprehensive evaluation by a medical professional is necessary to accurately diagnose congenital ichthyosiform erythroderma.

References:

• Search result 8: Ichthyosis hystrix most closely resembles bullous congenital ichthyosiform erythroderma (MIM:113800).
• Search result 9: Clinical differential diagnoses include severe atopic dermatitis, erythrodermic psoriasis, congenital ichthyosiform erythroderma, Leiner disease, and ...
• Search result 12: Congenital ichthyosiform erythroderma (CIE) may present in the newborn period as a collodion baby (milder than with lamellar ichthyosis) with ectropion and eclabium.
• Search result 13: 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.