research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
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research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research 190 A cross-sectional study evaluating skin, hair, nail and bone disease in patients with focal dermal hypoplasia
Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Left Testicular Hypoplasia and Right Cryptorchid Testes Seminoma in a German Shepherd Dog
Testicular abnormalities in dogs should be treated to prevent complications like seminoma.
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 Changes in eyebrow position following blepharoptosis surgery
Blepharoptosis surgery usually lowers the eyebrows, especially near the nose.
research Estudio clínico-patológico sobre el cáncer de próstata incidental en pacientes intervenidos bajo el supuesto diagnóstico de HBP sintomática
Incidental prostate cancer was found in 4.89% of patients undergoing surgery for benign prostatic hyperplasia.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Rare Case of Alopecia: Alopecia Neoplastica
A rare case of hair loss was linked to breast cancer spreading to the scalp, but treatment was effective.
research Normal Pubertal Development in Daughters of Women With PCOS: A Controlled Study
Daughters of women with PCOS generally experience normal puberty but may have more body hair and different body fat distribution.
research A Rare Case of Biotinidase Deficiancy
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
research Immunohistochemical Analysis of the Mechanistic Target of Rapamycin and Hypoxia Signalling Pathways in Basal Cell Carcinoma and Trichoepithelioma
The study found that analyzing certain cell signaling pathways is not a reliable method to tell apart two types of skin tumors.
research Alopecia triangular temporal bilateral simulando alopecia androgenética de padrão masculino em mulher adulta: relato de caso e revisão da literatura
Temporal triangular alopecia causes permanent hair loss and can be managed with treatments like minoxidil or hair transplantation.
research The Hair-An Syndrome: A Report of a Misdiagnosed Case with Unfortunate Outcome
A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
research Hair Shaft Abnormalities. Pili Bifurcati: A Scanning Electron Microscopy Analysis
The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Prepubertal pattern hair loss
Children under 10 can experience hair thinning without hormone issues, and it may improve with treatment.
research Evaluation of Premature Pubarche Cases: A Single CenterExperience
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Lack of Scalp and Body Hair on an 11-Month-Old Girl
An 11-month-old girl has no scalp or body hair, and the cause is being studied.
research Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
research Epidermoid Cyst with Foreign Body Granuloma Formation in Hip: A Case Misdiagnosed by Ultrasound
Epidermoid cysts can be better diagnosed with ultrasound by recognizing specific features and using clinical information.
research OSTEOPOROSIS
research The Common Ultrasonographic Features of Pilomatricoma
Ultrasonography improves pilomatricoma diagnosis accuracy.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Post-partum pituitary insufficiency and livedo reticularis presenting a diagnostic challenge in a resource limited setting in Tanzania: a case report, clinical discussion and brief review of existing literature
Early diagnosis and hormone therapy can significantly improve outcomes for post-partum pituitary insufficiency in resource-limited settings.