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.
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research 5048 A Rare Cause of Hyperandrogenism in Postmenopausal Women: Ovarian Stromal Hyperplasia
Ovarian stromal hyperplasia can cause high testosterone in postmenopausal women and is treated by removing the ovaries.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling
Blocking CXCR4 may help treat hidradenitis suppurativa.
research Epidemiology, diagnosis and management of hirsutism: a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome Society
Experts recommend using evidence-based methods to diagnose and treat hirsutism, focusing on symptoms and underlying causes.
research Sexuality in Patients with Hidradenitis Suppurativa: Beliefs, Behaviors and Needs
Hidradenitis suppurativa negatively affects patients' sexual lives and relationships, highlighting the need for better support and communication about sexual health.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research 15485 Evaluating the safety and efficacy of intense pulsed light with radiofrequency in US patients with hidradenitis suppurativa: A split-body study
Intense pulsed light with radiofrequency showed mixed results in improving quality of life for hidradenitis suppurativa patients, with no clinical improvements.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research The prevalence of idiopathic hirsutism and polycystic ovary syndrome in the Tehran Lipid and Glucose Study
About 13% of women had idiopathic hirsutism and 8.5% had polycystic ovary syndrome in a group of Iranian women.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
research Hidradenitis suppurativa: an-androgen-dependent disorder
Hidradenitis suppurativa improves with antiandrogen therapy.
research Hyposecretion of the adrenal androgen dehydroepiandrosterone sulfate (DHEA-S) in the majority of the alopecia areata patients: Is it a primitive and pathogenic perturbation of hypothalamic-pituitary-adrenal axis?
Low DHEA-S levels might be linked to alopecia areata and could be a potential treatment target.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research The effect of hormones of the hypothalamic-pituitary-target gland axes in a kidney-yang deficiency syndrome model
Kidney-yang deficiency syndrome causes hormonal imbalances and various physical symptoms.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome
A patient with a rare chromosome condition also had a rare type of hair loss.
research Disorders of excessive hair growth in the adolescent
Hirsutism in teen girls is common, usually harmless, but can sometimes signal serious issues and is treatable.
research Short anagen hair syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Advances in molecular pathogenesis of hidradenitis suppurativa: Dysregulated keratins and ECM signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research IDIOPATHIC HYPOPARATHYROIDISM; A REPORT OF 2 CASES
Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
research Dizziness and rash in an HIV positive man
The man likely has secondary syphilis affecting his nervous system.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.