research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
Search
for
Sort by
Research
570-600 / 1000+ results
research Polycystic Ovary Syndrome and Its Differential Diagnosis
The document concludes that correct diagnosis and management of PCOS are important, and more research is needed on its risks and treatments.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Localized trichorrhexis nodosa
Localized trichorrhexis nodosa is a hair condition where hair becomes fragile and breaks easily due to damage.
research Ptosis in childhood
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Approach to the Patient: Diagnostic Challenges in the Work Up for Polycystic Ovary Syndrome
Diagnosing PCOS is challenging due to its complex and varied symptoms.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Ovarian Hilus-Cell Hyperplasia and High Serum Testosterone in a Patient With Postmenopausal Virilization
A woman's male-like symptoms and high testosterone were due to ovarian hilus-cell hyperplasia, which improved after surgery.
research Vertex Accentuation in Female Pattern Hair Loss
Vertex accentuation is a common pattern in female hair loss.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research The polycystic ovary syndrome
Polycystic Ovary Syndrome (PCOS) is a complex disorder with both immediate and long-term health effects, including menstrual issues, infertility, and increased risk of diabetes and heart disease.
research Short anagen syndrome in a girl with curly dark hair and consanguineous parents
A 3-year-old girl has short anagen syndrome, causing her hair to stay short.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research Description and characterization of a hair coat disorder in schipperkes
The hair coat disorder in Schipperkes is similar to Alopecia X and involves increased androstenedione levels and hair cycle arrest.
research Polycystic Ovary Syndrome: Clinical Presentation, Diagnostic Challenges, and Evolving Management Approaches
Early detection and comprehensive care improve long-term health in PCOS.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Μελέτη των πολυμορφισμών IΙe 49 Ser του γονιδίου της αντιμυλλεριανικής ορμόνης (ΑΜΗ) ΚΑΙ 482 Α>G του υποδοχέα τύπου ΙΙ της αντιμυλλεριανικής ορμόνης (AMHR) σε γυναίκες με σύνδρομο των πολυκυστικών ωοθηκών (PCOS)
The AMHR2-482A>G gene change is linked to higher PCOS risk.
research Você conhece esta síndrome? * Do you know this syndrome? *
Loose anagen hair syndrome causes easily pulled, thin hair in kids but is harmless and temporary.
research Síndrome de ovario poliquístico
PCOS is a common disorder in women causing hormonal imbalance and fertility issues, often managed with lifestyle changes and medication.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Polycystic ovary syndrome (PCOS) trilogy: a translational and clinical review
The document concludes that more multidisciplinary research is needed to understand and treat PCOS, a condition that significantly affects women's health and quality of life.
research Polycystic ovary syndrome in North America
PCOS is a common and costly condition in North American women, causing various health issues like obesity, diabetes, and fertility problems.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
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.