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Netherton syndrome
ICD-10 Codes
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Description
Netherton syndrome is a rare genetic disorder that affects the skin, hair, and immune system.
Characteristics of Netherton Syndrome
- Skin Condition: The disease causes scaly skin, which can be red and inflamed in newborns [1].
- Hair Defect: People with Netherton syndrome have a distinctive hair shaft defect called trichorrhexis invaginata, where the hair is fragile and prone to breaking [5].
- Immune System Impact: The condition may also affect the immune system, making individuals more susceptible to infections [9].
Other Key Features
- Netherton syndrome is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [4].
- It is considered a severe and ultra-rare multisystem disorder with a life-altering impact on individuals [6].
Symptoms and Presentation
- The condition presents with ichthyosiform erythroderma, which is characterized by inflamed, red skin that can be scaly and sparse [3].
- Newborns with Netherton syndrome may have skin that is red and scaly, while older children and adults may experience a range of symptoms including skin lesions, hair loss, and immune system problems [2].
Overall, Netherton syndrome is a rare and complex condition that affects multiple systems in the body. Its symptoms can vary widely from person to person, but it often presents with skin, hair, and immune system abnormalities.
References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9
Additional Characteristics
- hair loss
- skin lesions
- scaly skin
- red and inflamed skin
- fragile and prone to breaking hair (trichorrhexis invaginata)
- immune system problems
Signs and Symptoms
Netherton syndrome is a rare inherited disorder that affects the skin, hair, and immune system. The condition presents with several distinct signs and symptoms.
Skin Manifestations
- Red, scaly, and inflamed skin (erythroderma) [2]
- Ichthyosiform erythroderma - inflamed, red, and scaly skin [3]
- Dry, flaky, and peeling skin [8]
Hair Characteristics
- Sparse, thin, and easily breakable hair [1]
- Spikey-looking hair shafts (trichorrhexis invaginata) [5]
Other Symptoms
- Increased susceptibility to allergies [1]
- Generalized redness and peeling at birth or shortly thereafter [8]
- Other symptoms associated with the condition, including spikey-looking hair shafts [9]
It's worth noting that Netherton syndrome is a rare disorder, and these symptoms may not be present in every individual affected by it. However, these characteristics are commonly associated with the condition.
References: [1] Oct 7, 2024 — The disease causes scaly skin sparse, thin, easily breakable hair and increased susceptibility to allergies and dry, flaky, red skin (atopic ... [2] Mar 1, 2014 — Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly. [3] Netherton syndrome is a rare inherited disorder that presents with the three following characteristics: Ichthyosiform erythroderma – inflamed, red, ... [5] Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis ... [8] Affected individuals present at birth or shortly thereafter with generalized redness, known as erythroderma, and peeling. [9] Mar 2, 2020 — In addition to having dry and red skin, individuals with NS usually have other symptoms associated with the condition, including spikey-looking, ...
Additional Symptoms
- Red, scaly, and inflamed skin (erythroderma)
- Ichthyosiform erythroderma - inflamed, red, and scaly skin
- Dry, flaky, and peeling skin
- Sparse, thin, and easily breakable hair
- Spikey-looking hair shafts (trichorrhexis invaginata)
- Increased susceptibility to allergies
- Generalized redness and peeling at birth or shortly thereafter
Diagnostic Tests
Netherton syndrome, a rare genetic disorder affecting the skin, hair, and immune system, can be diagnosed through various diagnostic tests.
Clinical Examination: A thorough clinical examination by a healthcare professional is essential to identify the symptoms of Netherton syndrome. This includes observing the characteristic red and scaly skin in newborns [5].
Genetic Testing: Genetic testing is required for diagnosis, which involves analyzing the SPINK5 gene [9]. DNA tests can also be used for prenatal diagnosis, early postnatal testing, and carrier testing.
Skin Biopsy: A skin biopsy can help confirm the diagnosis by revealing LEKTI deficiency through immunohistochemistry [4].
Hair Examination: Trichoscopy of the hair can reveal characteristic features such as trichorrhexis invaginata, which is a diagnostic sign of Netherton syndrome [7].
Other Diagnostic Tests: Other tests used to diagnose Netherton syndrome include DNA testing, skin biopsy, and assessment of hair through trichoscopy [8]. These tests help confirm the diagnosis and rule out other conditions.
It's essential to consult with a healthcare professional for accurate diagnosis and treatment. They can guide you on the best course of action and provide referrals to specialists as needed [6].
References: [4] - context #4 [5] - context #5 [6] - context #6 [7] - context #7 [8] - context #8 [9] - context #9
Additional Diagnostic Tests
- Skin biopsy
- Skin Biopsy
- Genetic Testing
- DNA testing
- Trichoscopy
- Clinical Examination
- Hair Examination
Treatment
Netherton syndrome (NS) is a rare genetic disorder characterized by skin symptoms, including ichthyosis and atopic dermatitis. While there are no definitive treatments for NS, various medications have been explored to manage its symptoms.
Topical Treatments
Several topical medications have been used to treat NS:
- Topical corticosteroids: These are commonly used to reduce inflammation and itching in the skin (3). However, long-term use can lead to skin thinning and other side effects.
- Retinoids: Topical retinoids, such as tazarotene cream, have been used to improve skin symptoms in NS patients (5).
- Topical keratolytics: These medications help break down thickened skin cells and may be beneficial for ichthyosis symptoms (5).
Oral Medications
Several oral medications have also been explored:
- Anakinra: This interleukin-1 receptor antagonist has been used to treat NS, with some patients experiencing improvement in skin lesions and increased strength (6).
- Dupilumab: As a biologic medication targeting interleukin-4 and interleukin-13, dupilumab may be beneficial for NS symptoms such as pruritus and scaling (7).
- Abrocitinib: This oral selective Janus kinase 1 inhibitor has been reported to rapidly improve skin symptoms in one case of NS (2).
Biologic Medications
Other biologic medications have also been investigated:
- Ixekizumab: A humanized antibody targeting interleukin-17A, ixekizumab may be beneficial for NS symptoms (1).
- Interleukin 13 inhibitors: These medications are being explored as a possible treatment option before trying immunosuppressants (8).
Other Treatments
In addition to these medications, other treatments have been used:
- Skin cleansing and bleach baths: Regular skin cleansing and bleach baths may help manage ichthyosis symptoms.
- Emollients/moisturizers: These can help soothe and protect the skin in NS patients (9).
- Calcineurin inhibitors: Topical calcineurin inhibitors, such as tacrolimus and pimecrolimus, have been used to treat inflammatory skin diseases like psoriasis and atopic dermatitis (11).
It is essential to note that each patient's response to treatment may vary, and a comprehensive treatment plan should be tailored to individual needs. Consultation with a healthcare professional is recommended for personalized guidance.
References:
- M Pontone · 2022 · Cited by 12
- CC Zheng · 2023 · Cited by 7
- AEM Nouwen · 2022 · Cited by 15
- AB Steuer · 2020 · Cited by 55
- Oct 7, 2024
- M Pontone · 2022 · Cited by 12
- F Barbati · 2021 · Cited by 33
- Jul 26, 2023
- P Kostova · 2024
- E Petrova · 2020 · Cited by 32
Recommended Medications
- Topical corticosteroids
- Dupilumab
- Retinoids
- Topical keratolytics
- Anakinra
- Abrocitinib
- Ixekizumab
- Interleukin 13 inhibitors
- Skin cleansing and bleach baths
- moisturizers
- Calcineurin inhibitors
💊 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
What is Differential Diagnosis? Differential diagnosis refers to the process of identifying and ruling out other possible causes of a patient's symptoms, in order to arrive at an accurate diagnosis.
Differential Diagnoses for Netherton Syndrome:
Netherton syndrome is a rare genetic disorder that affects the skin, hair, and immune system. When diagnosing this condition, it's essential to consider several differential diagnoses, which are conditions that may present with similar symptoms. Here are some of the key differential diagnoses for Netherton syndrome:
- Autosomal Recessive Congenital Ichthyosis: This is a rare genetic disorder characterized by scaly skin and other symptoms similar to those seen in Netherton syndrome.
- Omenn Syndrome: A rare genetic disorder that affects the immune system, causing symptoms such as scaly skin, hair loss, and anemia.
- Generalized Seborrheic Dermatitis: A common skin condition characterized by a red, itchy rash on the scalp, face, and other areas of the body.
- Erythrodermic Psoriasis: A rare form of psoriasis that causes widespread redness and scaly skin.
Key Features to Consider:
When considering these differential diagnoses, several key features should be taken into account:
- Genetic Testing: Genetic testing is essential for confirming a diagnosis of Netherton syndrome. However, it's also important to consider genetic testing for other conditions that may present with similar symptoms.
- Skin and Hair Symptoms: The presence of scaly skin, hair shaft abnormalities (such as trichorrhexis invaginata), and immune system dysregulation are key features of Netherton syndrome.
- Age of Onset: Netherton syndrome typically presents in infancy or early childhood.
References:
- [3] Netherton syndrome is a rare autosomal recessive disorder of cornification characterized by the classic triad of congenital ichthyosiform erythroderma, a specific hair shaft abnormality termed trichorrhexis invaginata ("bamboo hair"), and an atopic diathesis.
- [5] Netherton syndrome should be at the top of the differential diagnosis list in a newborn with erythroderma and abnormal-looking scalp hair.
- [9] Differential diagnoses included autosomal recessive congenital ichthyosis, Omenn syndrome, generalized seborrheic dermatitis, and erythrodermic psoriasis.
Additional Differential Diagnoses
Additional Information
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.