research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
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180-210 / 1000+ results research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Śródskórne iniekcje acetonidu triamcynolonu w leczeniu Zespołu Grahama-Little’a — opis przypadku
Intralesional triamcinolone acetonide can effectively limit the progression of GLPLS.
research Thrombophilia and Polycythemia in a Woman With Budd-Chiari Syndrome
A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
research A RARE PRESENTATION OF A SOLITARY RIGHT LOBE THYROID NODULE IN THE BACKGROUND OF MULTINODULAR GOITER
Thorough evaluation and treatment are crucial for thyroid nodules.
research Classic Sweet sydrome: A case report
A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
research Sertoli-Leydig Cell Tumour of Ovary with Menorrhagia: A Rare Case Report
Sertoli-Leydig cell tumors are rare ovarian tumors that can cause symptoms like menorrhagia.
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research Unusual Presentation of Rapunzel Syndrome in an 8-Year-Old Girl
Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research Bilateral morphea en coup de sabre: a rare presentationof linear morphea
A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
research SAT-LB2 Elevated Testosterone Secondary to Leydig Cell Hyperplasia in Bilateral Ovaries
A woman's high testosterone and related symptoms were caused by overactive cells in her ovaries.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
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 Sertoli-Leydig tumor in a 17-year-old girl: a case report
A 17-year-old girl was diagnosed with a rare ovarian tumor, emphasizing the need for fertility preservation and psychosocial care.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Clinical Manifestations of Toxic Shock Syndrome
Toxic Shock Syndrome mainly affects menstruating women, can recur, and is linked to staph bacteria, with rapid treatment being crucial.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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 Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research A RARE PRESENTATION OF A SOLITARY RIGHT LOBE THYROID NODULE IN THE BACKGROUND OF MULTINODULAR GOITER
The thyroid nodule was benign, and surgery was successful with a smooth recovery.
research GEOGRAPHIC TONGUE IN TWO CHILDREN WITH NONPUSTULAR PSORIASIS
Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
research Cronkhite-Canada Syndrome Associated with Serrated Adenoma and Malignant Polyp: A Case Report and a Literature Review of 13 Cronkhite-Canada Syndrome Cases in Korea
First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
research TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.