research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
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780-810 / 1000+ resultsresearch Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Patient-reported outcome assessment and objective evaluation of chemotherapy-induced alopecia
The Hair Check tool can measure hair loss, but patients' own reports are more reliable for assessing hair loss during chemotherapy.
research Categorization of long-lasting hair changes in patients after hematopoietic stem cell transplants
Patients often experience long-lasting changes to their hair after stem cell transplants.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research Premature isolated adrenarche in a six-year-old girl
A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
research Study on Changes of 19 Steroids in Plasma From 9 Diagnosed Patients With P450 Oxidoreductase Deficiency
Certain hormone levels can help diagnose P450 oxidoreductase deficiency.
research Single nucleotide polymorphisms associated with elevated alanine aminotransferase in patients receiving asunaprevir plus daclatasvir combination therapy for chronic hepatitis C
Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
research PCOS:Hindsgavl gynækologisk guideline
The guideline offers recommendations for diagnosing and managing PCOS and its complications.
research LB922 CyTOF immune profiling uncovers sex- and race-specific differences and cellular biomarkers for biologic response in Hidradenitis suppurativa
Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Celiac disease associated with alopecia areata: A multicenter case-control study
People with celiac disease have a higher risk of developing alopecia areata.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research A woman with headaches and blurred vision
The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Segmented heterochromia in scalp hair
Iron therapy cured the boy's hair color issue.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research Unilateral nevoid hyperkeratosis of the nipple and areola in a Saudi female
Calcipotriol cream reduced skin thickening and itching in a rare nipple condition.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Androgenetic alopecia and coronary artery disease in women
Women under 55 with hair loss (AGA) may have a higher risk of heart disease (CAD).
research The Malnourished Heart: An Unusual Case of Heart Failure
A woman's heart failure improved after she added vitamins and changed her diet from only cheese chips and cake.
research Acute generalized exanthematous pustulosis induced by hydroxychloroquine prescribed for COVID-19
A patient developed a severe skin reaction and died after taking hydroxychloroquine for COVID-19.
research Scalp hair 17‐hydroxyprogesterone and androstenedione as a long‐term therapy monitoring tool in congenital adrenal hyperplasia
Scalp hair 17-OHP and androstenedione levels can help monitor treatment in CAH patients.
research Central Centrifugal Cicatricial Alopecia
CCCA is a common, scarring hair loss in Black women that needs early detection.
research Treatment of hirsutism with cimetidine: a prospective randomized controlled trial
Cimetidine did not reduce hair growth in women with hirsutism.
research Reticulocyte Hemoglobin Content as a Best Indicator of Iron Deficiency in Female Patients with Diffuse Non-Scarring Hair Loss
Reticulocyte hemoglobin content is the best indicator of iron deficiency in women with diffuse non-scarring hair loss.
research LB1020 Scurvy: A forgotten illness?
Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.