research Thallium poisoning: emphasis on early diagnosis and response to haemodialysis
Early diagnosis and haemodialysis can effectively treat thallium poisoning.
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research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Pseudo-Cushing Syndrome
Pseudo-Cushing's symptoms disappear once the underlying issue is resolved.
research A STUDY OF MUCOCUTANEOUS MANIFESTATIONS IN AUTOIMMUNE CONNECTIVE TISSUE DISORDERS AT TERTIARY CARE CENTRE
Skin and mucous symptoms are key for diagnosing autoimmune connective tissue diseases.
research Serum concentrations of dihydrotestosterone are associated with symptoms of hypogonadism in biochemically eugonadal men
Higher DHT levels are linked to fewer hypogonadism symptoms in men with normal testosterone levels.
research Turner's syndrome associated with psoriasis and alopecia areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
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 Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research Congenital and Hereditary Skin Diseases
Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.
research Description and characterization of a hair coat disorder in schipperkes
The hair coat disorder in Schipperkes is similar to Alopecia X and involves increased androstenedione levels and hair cycle arrest.
research An unusual variant of granulomatous adnexotropic cutaneous T-cell lymphoma
A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
research Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus.
A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
research An autopsy case of unicentric C astleman's disease associated with bronchiolitis obliterans
A woman with Castleman's disease died from respiratory failure due to bronchiolitis obliterans.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Metastatic Embryonal Cell Carcinoma with High Testosterone and Absence of Secondary Sexual Characteristics
Treatment restored normal sexual characteristics and blood condition in a patient with testicular cancer.
research Tumid Lupus Erythematosus and Systemic Lupus Erythematosus: A Report on Their Rare Coexistence
A woman with both TLE and SLE improved with hydroxychloroquine treatment.
research SUN-439 Hypothalamic-Pituitary-Adrenal Axis Disruption from Unregulated Glucocorticoid Use: A Case Series
Unregulated glucocorticoid use can disrupt hormone balance and cause serious health issues.
research Thyroid and gonadal regulation of hair growth during the seasonal molt in the male European badger, Meles meles L
Thyroid and gonadal hormones control seasonal hair growth and molting in male European badgers.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research An Unusual Case of Elevated Testosterone: When Testosterone by Dialysis Saves the Day
Equilibrium dialysis can accurately measure testosterone levels when lab results are inconsistent.
research Comprehensive Case Analysis: Diagnosing and Managing Myositis in Newly Diagnosed Systemic Lupus Erythematosus Patients in Indonesia.
Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
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 Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Isosexual Precocious Pseudopuberty Secondary to a Testosterone-Secreting Leydig Cell Testicular Tumour: True Isosexual Development Early After Surgery*
A boy's early puberty caused by a testicular tumor returned to normal after surgery.