research Polycystic ovary syndrome
Polycystic Ovary Syndrome (PCOS) is a common condition in women that can cause metabolic, reproductive, and psychological issues, and requires lifestyle changes and medication for management.
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research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Polycystic ovarian syndrome: Prevalence and impact on the wellbeing of Australian women aged 16-29 years
Many young Australian women think they have PCOS, but only a few are diagnosed correctly, causing unnecessary worry.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research 20th Annual Symposium of the British Society of Paediatric Dermatology, 11-12 November 2005, Newcastle upon Tyne, U.K.
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research Metabolic aspects of different phenotypes of polycystic ovary syndrome: Iranian PCOS Prevalence Study
The study suggests that being overweight or obese, not PCOS itself, is strongly linked to insulin resistance.
research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research Syringolymphoid hyperplasia with alopecia and anhidrosis in a 12‐year‐old boy: a case report from rural south India
A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Conditional knock out of N-WASP in keratinocytes causes skin barrier defects and atopic dermatitis-like inflammation
N-WASP is essential for healthy skin and preventing inflammation.
research Rates of polycystic ovary syndrome (PCOS) symptoms in relatives of patients with PCOS
Female relatives of PCOS patients have a higher chance of showing PCOS symptoms.
research Prevalence and accurate diagnosis of polycystic ovary syndrome in adolescents across world regions: a systematic review and meta-analysis
PCOS affects about 6.3% of teens globally, and ongoing checks are advised for those with irregular cycles or high androgen levels.
research Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
research [Sodium valproate-induced kinky hair].
A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
research Prevalence and characteristics of polycystic ovary syndrome in Brazilian women: protocol for a nation-wide case–control study
PCOS is common in Brazilian women and linked to metabolic and reproductive issues.
research Clinical Approaches to PCOS: A Survey of the NASPAG Membership
Doctors vary in how they initially test for PCOS, but most agree on using oral contraceptives and lifestyle changes as first treatments.
research Clinical, Microscopic and Ultrastructural Findings in a Case of Short Anagen Syndrome
The study found that Short Anagen Syndrome results in short hair growth not due to hair fragility, and hair may grow longer after puberty.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
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 Polycystic Ovaries: A Cross Sectional Study on Unmarried Girls in KSA
PCOS affects many young women in KSA, with mild cases being most common.
research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Case 5: A Very Tall 7-year-old Boy with Medulloblastoma
A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
research Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.