research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
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research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Vulvovaginal involvement in Netherton syndrome: A case report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses
Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.