research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
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240-270 / 1000+ results research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Ovarian hyperthecosis in a 62-year-old woman presenting with hyperandrogenism and elevated testosterone
Early diagnosis and surgery can improve symptoms of ovarian hyperthecosis in postmenopausal women.
research Case Report: Exceptional Association of Leydig Cell Ovarian Tumor and Primary Hyperparathyroidism in a Postmenopausal Patient
A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
research ERG induces androgen receptor-mediated regulation of SOX9 in prostate cancer
ERG increases SOX9, promoting prostate cancer growth and invasion.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research 7452 A Diagnostically Challenging Case of Hyperandrogenism in Postmenopausal Woman
The case highlights the complexity of diagnosing high testosterone in older women and the need for thorough testing.
research Skin tumors with matrical differentiation: lessons from hair keratins, beta‐catenin and PHLDA ‐1 expression
Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research Melanotrichoblastoma: A Histopathological Case Report of a Rare Pigmented Variant of Trichoblastoma
A rare pigmented skin tumor called melanotrichoblastoma was diagnosed in a 51-year-old woman.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Cylindroma as Tumor of Hair Follicle Origin
Cylindromas likely originate from hair follicle stem cells, not sweat glands.
research Desmoplastic Trichoepithelioma: Histopathologic and Immunohistochemical Criteria for Differentiation of a Rare Benign Hair Follicle Tumor From Other Cutaneous Adnexal Tumors
The document concludes that recent studies help tell apart desmoplastic trichoepitheliomas from other skin tumors, but more research is needed for clear differentiation.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Critères dermoscopiques d’un onychomatricome
Onychomatricome is a benign nail tumor with specific dermoscopic features that help distinguish it from cancer.
research What was your diagnosis?
The dog had a Sertoli cell tumor, which was successfully removed with surgery.
research Leydig cell ovarian tumour: a rare cause of hyperandrogenism
Leydig cell tumors can cause high testosterone in women and are treated by removing the ovaries.
research Anogenital distance as a biomarker for incomplete masculinization : Molecular mechanisms in the perineum
A short male anogenital distance may indicate incomplete masculinization due to disrupted androgen action.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA
Genetics may play a significant role in gender dysphoria.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Case Report: A Virilizing Adrenal Oncocytoma
A woman's symptoms of increased body hair and testosterone were caused by a rare adrenal tumor, which was removed successfully.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Expression of type I hair keratins in follicular tumours
Pilomatrixomas likely originate from the hair matrix due to changes in hair keratin expression.
research Aggressive squamous cell carcinoma developing in a giant epidermal cyst of the abdomen
A woman died from cancer that spread from a long-standing cyst on her abdomen.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research A Large Benign Adrenocortical Adenoma Cosecreting Testosterone and Cortisol
A woman's rare benign tumor that released both cortisol and testosterone was successfully removed, improving her health.
research Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.