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660-690 / 1000+ resultsresearch Familial Dyskeratotic Comedones: A Case Report and Literature Review
Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Polycystic Ovary Syndrome
PCOS is a common hormonal disorder causing irregular periods and increased hair growth, linked to insulin resistance and long-term health issues.
research Polycystic Ovary Syndrome and Inflammation
Polycystic ovary syndrome causes chronic inflammation affecting all body systems, but proper nutrition, exercise, and supplements can improve the condition.
research In brief
Pilomatricomas don't follow the usual hair follicle cell differentiation process.
research POLYCYSTIC OVARY SYNDROME: DIVERSE CLINICAL PRESENTATIONS ACROSS ADOLESCENCE, REPRODUCTIVE AGE, AND MENOPAUSE
PCOS symptoms vary by age, affecting diagnosis and treatment.
research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research 607 Cutaneous overexpression of cyclooxygenase-2 models androgenetic alopecia in adult mice
Cyclooxygenase-2 overexpression in mice skin causes hair loss like human androgenetic alopecia.
research PREVALANCE OF POLYCYSTIC OVARY SYNDROME (PCOS) AND ITS PHENOTYPES: A CLINICAL ANALYSIS IN SWABI
About 26% of women in Swabi have PCOS, with hyperandrogenism being the most common symptom.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
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 BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
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 Tumour development in Lynch syndrome : genes load the gun, lifestyle pulls the trigger?
Lifestyle factors like BMI at young adulthood can increase cancer risk in women with Lynch Syndrome, but diet and height don't seem to affect this risk.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research Disruption of tubular Flcn expression as a mouse model for renal tumor induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research Cutaneous polyarteritis nodosa presenting with digital gangrene and breast ulcer
A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research A study to assess the co-morbidities and complications of polycystic ovarian syndrome
The study found that heart disease is common in people with PCOS and that being overweight is a major risk factor; lifestyle changes and medication are important for management.
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 Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Prevalence of polycystic ovary syndrome among reproductive females in Padgampora village of Pulwama, J&K, India
Raising awareness about PCOS in young females can help prevent long-term health issues.
research Curtailing PCOS
Lifestyle changes are the main treatment for PCOS, which is a complex condition requiring early management to reduce its health impacts.