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.
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480-510 / 1000+ results research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research A case of antilaminin 332 mucous membrane pemphigoid showing a blister on the bulbar conjunctiva and a unique epitope on the α3 subunit
A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
research SAT320 Cyclic Cushing Syndrome Caused By An ACTH-Producing Pheochromocytoma
A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
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 Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Primary High‐Grade Ovarian Sertoli–Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz–Jeghers Syndrome
Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
research Becker’s Nevus Syndrome in a Pediatric Female Patient
A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Rapunzel Syndrome: A Rare Cause of Biliary Obstruction
Trichobezoars can cause serious health issues like biliary obstruction, and treatment includes surgery and therapy to prevent recurrence.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Two diagnoses become one? Rare case report of anorexia nervosa and Cushing’s syndrome
A woman with anorexia and Cushing's syndrome improved after tumor removal, highlighting the need to consider hormonal issues in psychiatric conditions.
research An Unusual Presentation of Mucous Membrane Pemphigoid
Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
research Characteristics associated with significantly worse quality of life in mycosis fungoides/Sézary syndrome from the Prospective Cutaneous Lymphoma International Prognostic Index ( PROCLIPI ) study
People with mycosis fungoides/Sézary syndrome have a much lower quality of life.
research Marie Antoinette Syndrome
Marie Antoinette syndrome causes sudden hair whitening, but its exact cause is unknown.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
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 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 Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research Borderline Tuberculoid leprosy of the scalp mimicking alopecia areata-vitiligo overlap syndrome: A case report
A woman's hair loss and skin discoloration were found to be caused by a rare case of leprosy on the scalp, not alopecia-vitiligo overlap.
research Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.