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.
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research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1
Two new gene clusters important for hair formation were found on human chromosome 11.
research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Graham-Little Syndrome — a rare entity of both scarring and non-scarring alopecia concomitance
Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
research Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family
KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
research Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.
Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
research Acquired progressive kinking of hair affecting the scalp and eyelashes in an adult woman
A woman developed rare, unexplained curly hair on her scalp and eyelashes.
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes
KAP genes show significant genetic variability, but its impact on hair traits is unclear.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Hyperandrogenism in Women: Polycystic Ovary Syndrome
The document concludes that more research is needed to create suitable diagnostic criteria and understand PCOS in Korean women, and genetics may allow for personalized treatment.