research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
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research Polycystic Ovarian Syndrome in Female players
PCOS is common, affects fertility, and needs early diagnosis and lifestyle changes for management.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Christmas article: Case of uncombable hair syndrome discovered after publication of article in Ugeskrift for Læger
Digital access to medical info can help identify rare conditions.
research Polycystic Ovary Syndrome
PCOS treatment should address both symptoms and metabolic risks, starting with lifestyle changes and possibly including medication.
research A patient with Cronkhite-Canada syndrome whose entire digestive tracts was examined endoscopically
Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
research Cardiometabolic and neuroimaging correlates of cognitive function in polycystic ovary syndrome
Women with PCOS have altered brain structure and reduced cognitive performance.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Antimüllerian hormone to determine polycystic ovarian morphology
A blood test level of 3.2 ng/mL of Antimüllerian hormone is good for identifying polycystic ovarian morphology in European women aged 25–45.
research Polycystic ovary syndrome in adult women
PCOS is a common hormonal disorder in women that can affect skin, fertility, and metabolism, and treatment is tailored to individual needs.
research AN OVERVIEW ON POLYCYSTIC OVARIAN SYNDROME
PCOS is a hormonal disorder affecting many women, leading to symptoms like acne and irregular periods, and increasing the risk of diabetes and heart disease.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Effect of a combination of ethinylestradiol and desogestrel in adolescents with oligomenorrhea and ovarian hyperandrogenism
The treatment temporarily improved symptoms of hyperandrogenism in adolescents.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Teacher CPD: towards a broader perspective
Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
research The pathophysiology of polycystic ovary syndrome: trying to understand PCOS and its endocrinology
The conclusion is that PCOS is caused by ovarian sensitivity to hormones and disrupted hormone control, possibly due to ovarian factors, and more research is needed.
research Metabolic Aspects of Polycystic Ovary Syndrome
Women with PCOS often have metabolic issues like insulin resistance and a higher risk of diabetes and abnormal lipid levels.
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.
research Presence of polycystic ovary syndrome is associated with longer anogenital distance in adult Mediterranean women
Women with polycystic ovary syndrome tend to have a longer distance between the clitoris and anus.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Onychomatricoma in the Light of the Microanatomy of the Normal Nail Unit
Onychomatricoma is a unique nail tumor that mimics the entire nail unit and is not related to other hair-related tumors.
research The emerging roles of N6-methyladenosine (m6A) deregulation in polycystic ovary syndrome
m6A deregulation plays a key role in PCOS and could lead to new treatments.