research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
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810-840 / 1000+ results research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Anti-Müllerian hormone confirms the novel classification of female functional androgenization including polycystic ovary syndrome
Anti-Müllerian hormone is a specific marker for ovarian issues in women with conditions like PCOS.
research SAT-224 Polycystic Ovary Syndrome with Adrenal Hyperandrogenemia and Refractory Hirsutism
Glucocorticoid treatment lowered androgen levels but didn't improve hirsutism or ovulation and caused weight gain.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
research KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP
A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Contemplation on Polycystic Ovarian Syndrome
PCOS is a common hormonal disorder in women, causing symptoms like acne and irregular periods, and is managed with medication and lifestyle changes.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Comparison of Levels of Androgenic Hormones in various Phenotypes of Polycystic Ovarian Syndrome in High School Girls aging 14 to 18 Years
Girls with PCOS and menstrual disorders have notably higher androgen hormone levels.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Polycystic ovarian syndrome in patients with schizophrenia treated with atypical anti-psychotics: A case control study
Women with schizophrenia on atypical antipsychotics are more likely to have polycystic ovarian syndrome (PCOS) than women without schizophrenia.
research Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research Cardiometabolic and neuroimaging correlates of cognitive function in polycystic ovary syndrome
Women with PCOS have altered brain structure and reduced cognitive performance.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Simplify your approach to the diagnosis and treatment of PCOS
The conclusion is to diagnose PCOS with just hyperandrogenism and irregular periods, and treat with lifestyle changes and basic medications.
research Trichoscopy findings in loose anagen hair syndrome: rectangular granular structures and solitary yellow dots
Rectangular black granules, solitary yellow dots, and mostly single-hair follicles suggest Loose Anagen Hair Syndrome.
research Metabolic syndrome
Metabolic syndrome can cause serious health issues and should be considered when treating women with severe acne.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Case of alopecia universalis accompanied by minimal change nephrotic syndrome
A possible link exists between minimal change nephrotic syndrome and complete hair loss.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Landing Eyes on Unnoticed Disorder: A Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is a common but often undiagnosed disorder in women that can cause irregular periods, infertility, and other symptoms, and can be managed with lifestyle changes, medication, and sometimes surgery.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Polycystic ovary syndrome and iron overload: biochemical link and underlying mechanisms with potential novel therapeutic avenues
Polycystic ovary syndrome and iron overload share similar symptoms and can be potentially treated with blood removal, diet changes, and probiotics.
research POLYCYSTIC OVARY SYNDROME (PCOS)–AN OVERVIEW
PCOS is a hormonal disorder causing symptoms like irregular periods and acne, and increases the risk of diabetes and heart disease.