research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
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research Polycystic ovary syndrome (PCOS)
The French Endocrine Society suggests diagnosing PCOS with two of three signs, recommends lifestyle changes and clomiphene for treatment, and calls for more research on certain treatments and tests.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Polycystic Ovarian Syndrome in Adolescents
PCOS in teens causes hormonal imbalances, irregular periods, and can lead to infertility and other health issues.
research LBMON232 A Hairy Situation: Ovarian Sex Cord Stromal Tumor As A Rare Cause Of Hyperandrogenism
A rare ovarian tumor caused high testosterone and excess hair in a woman, which was resolved after tumor removal.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research Cronkhite–Canada Syndrome Diagnosis in the Absence of Gastrointestinal Polyps
Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
research Cutaneous xanthomas in homozygous familial hypercholesterolemia: A 12-year follow-up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
research Definitions, prevalence and symptoms of polycystic ovaries and polycystic ovary syndrome
Polycystic ovaries are defined by having 12 or more small follicles in each ovary and are found in up to 33% of women, while Polycystic Ovary Syndrome (PCOS) is the most common hormone disorder in women of reproductive age, potentially increasing risk of obesity, diabetes, and heart diseases.
research Mania in Hyperandrogenism, Insulin Resistance, and Nigricans Acanthosis Syndrome
Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
research Criteria for Diagnosis of Polycystic Ovary Syndrome during Adolescence: Literature Review
Diagnose PCOS in teens using irregular periods and high androgen levels, not ultrasound.
research A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome
The study investigated the association between the -866G/A polymorphism in the promoter of the uncoupling protein-2 (UCP2) gene and polycystic ovary syndrome (PCOS), a condition linked to obesity and insulin resistance. The research involved 277 PCOS patients and 152 healthy controls, using genotyping methods to analyze the UCP2 polymorphism. The results indicated no significant association between the -866G/A polymorphism and PCOS, with a P-value of 0.7168, suggesting that this genetic variation did not contribute to the pathogenesis of PCOS.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research MON-LB044 Bilateral Ovarian Hyperthecosis: A Benign and Unusual Cause of Postmenopausal Hirsutism
Bilateral ovarian hyperthecosis is a rare but treatable cause of increased facial hair in postmenopausal women.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
research Oligomenorrhoea in Exercising Women
Irregular menstrual cycles in exercising women may be linked to energy deficiency or hormonal imbalances, requiring careful diagnosis for proper treatment.
research Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries
Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.
research 7745 Hirsutism in young girls, Beyond PCOS
Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
research Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control
Dupilumab effectively controls symptoms in infants with Netherton syndrome.
research Polycystic Ovarian Syndrome in Taiwanese Women
Obesity is a major risk factor for insulin resistance in Taiwanese women with PCOS, which is also an independent risk factor for metabolic syndrome.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research A RARE ENCOUNTER
Surgical removal of an adrenal tumor resolved hormonal issues in a young woman.