research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
Search
for
Sort by
Research
570-600 / 1000+ results 
research Bi-directional association between female pattern hair loss and polycystic ovary syndrome: A systematic review and meta-analysis.
Female pattern hair loss and polycystic ovary syndrome are often linked.
research Cavitating Osmotic Demyelination Syndrome Following Correction of Chronic Hyponatremia in Sheehan’s Syndrome: A Novel Case Report
Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
research Maladies systémiques associées à la cirrhose biliaire primitive : à propos de 10 cas
Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.
research Fluoroscopy-induced morphea
A man developed a painful skin condition after multiple heart procedures involving radiation.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research A case of loose anagen hair syndrome associated with trichotillomania in a 14-year-old girl
A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Evaluation of changes in meibomian glands in polycystic ovary syndrome by noncontact infrared meibography
People with polycystic ovary syndrome have worse meibomian gland and ocular surface conditions.
research 6 Current concepts of polycystic ovary syndrome
PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.
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 Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Protein-Losing Enteropathy, Anasarca and Dermatological Manifestations on People of Advanced Age: Don't Overlook the Diagnostic Hypothesis of a Cronkhite Canada Syndrome
Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Prevalence of Body Dysmorphia in Polycystic Ovary Syndrome ( PCOS) Patients
Body dysmorphia is common in women with PCOS, affecting their quality of life.
research Long-COVID symptoms after multisystem inflammatory syndrome in children during different pandemic waves
Long-COVID symptoms in children after MIS-C are similar across different COVID-19 variants, with older age being a key factor.
research Graham-Little-Piccardi-Lassueur Syndrome: Two Case Reports and Review of the Literature
The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
research Coexistent frontal fibrosing alopecia with ophiasis pattern alopecia areata in a young female: A case report and review of the literature
Recognizing rare hair loss patterns in young females can improve understanding and treatment.
research Connective Tissue Disorders
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Hair Loss and Polyposis in Cronkhite-Canada Syndrome
Prednisone treatment helped a woman with Cronkhite-Canada syndrome recover from hair loss and digestive issues.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Acquired uncombable hair
A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Bone infarcts in a woman with systemic lupus erythematosus and antiphospholipid antibody syndrome
A woman with lupus and antiphospholipid syndrome had bone damage, showing the need for careful treatment.
research Perforating folliculitis with jaundice in an Indian male: a rare case with sclerosing cholangitis
Surgery resolved the man's skin and liver issues, and he stayed symptom-free for a year.