research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
Search
for
Sort by
Research
30-60 / 946 results
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Cutaneous Syndromes Produced as Side Effects of Triparanol Therapy
Triparanol therapy can cause hair loss and skin dryness without inflammation or damage to hair follicles or skin structures.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling and Therapy
Effective management of ichthyoses requires genetic counseling and appropriate treatments.
research Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
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 A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
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 Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.