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GlossaryNetherton Syndrome

rare genetic disorder causing skin inflammation and brittle hair

Netherton Syndrome is a rare genetic disorder characterized by chronic skin inflammation, a distinctive hair shaft abnormality called trichorrhexis invaginata (bamboo hair), and a predisposition to allergies and infections. It is caused by mutations in the SPINK5 gene, which affects the skin's barrier function, leading to symptoms like red, scaly skin and brittle hair.

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research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings

124 citations , January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.

research Netherton's syndrome and ichthyosis linearis circumflexa.

15 citations , April 1970 in “PubMed”

Netherton's syndrome may have a familial link and doesn't always include atopy.

research Canestick Lesion of Vellus Hair in Netherton's Syndrome

9 citations , April 1985 in “Archives of Dermatology”

Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.

research Recurrent bacterial vaginosis and Netherton's syndrome

4 citations , March 1999 in “International Journal of STD & AIDS”

Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.

research [Netherton's syndrome in two sisters].

3 citations , June 2002 in “PubMed”

Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.

research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA

2 citations , April 1970 in “Archives of Dermatology”

Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.

research Trichorrhexis Invaginata and Netherton’s Syndrome

January 2012

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

research Netherton's Syndrome.

January 1998 in “The Nishinihon Journal of Dermatology”

A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.

research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype

87 citations , January 2017 in “PLoS Genetics”

Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.

research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome

30 citations , February 2015 in “Anais Brasileiros de Dermatologia”

Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.

research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome

October 2025 in “Indian Journal of Paediatric Dermatology”

Trichoscopy is a helpful tool for diagnosing Netherton syndrome.

research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder

September 2025 in “OBM Genetics”

Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.

research Trichoscopy in Unveiling the Triad of Netherton Syndrome

January 2025 in “Clinical Dermatology Review”

Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.

research Vulvovaginal involvement in Netherton syndrome: A case report

January 2024 in “JAAD case reports”

Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.

research Severe Hypernatremia as Presentation of Netherton Syndrome

November 2023 in “Global Medical Genetics”

Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.

research Successful management of Netherton syndrome using IVIG and dupilumab: A case report

1 citations , June 2025 in “Journal of Allergy and Clinical Immunology Global”

A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.

research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report

April 2017 in “IOSR journal of dental and medical sciences”

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

research Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses

59 citations , September 2021 in “Journal of Allergy and Clinical Immunology”

Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.

research Successful induction of oral tolerance in Netherton syndrome

11 citations , October 2011 in “Allergologia et immunopathologia”

A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.

research Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control

5 citations , November 2024 in “Journal of Clinical Immunology”

Dupilumab effectively controls symptoms in infants with Netherton syndrome.

research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine

5 citations , January 2011 in “Archives de Pédiatrie”

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome

3 citations , January 2020 in “Acta Dermato Venereologica”

Netherton Syndrome can cause severe skin lesions in rare cases.

research LEKTI: Netherton Syndrome and Atopic Dermatitis

1 citations , February 2013 in “InTech eBooks”

LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.

research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.

May 2025 in “PubMed”

Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.

research Netherton Syndrome – Responding to Oral Retinoids

May 2025 in “International Journal of Trichology”

Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.

research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome

July 2024 in “Journal of Investigative Dermatology”

DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.

research 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome