January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
April 2023 in “Journal of Investigative Dermatology” An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
June 2010 in “Institutional Repositories DataBase (IRDB)” Self-induced vomiting in anorexia can lead to rare gout complications.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare lupus case on the chin was successfully treated with steroids and immunomodulators after accurate diagnosis using advanced imaging techniques.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
November 2015 in “Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca Veterinary Medicine” Most dogs with Cushing's syndrome have pituitary tumors causing varied symptoms, complicating diagnosis.
5 citations
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May 2008 in “Annals of saudi medicine/Annals of Saudi medicine” Cabergoline helped a boy with Cushing disease get better after surgery and radiotherapy didn't work.
March 2023 in “Pediatrics & neonatology” A baby girl had two brain-related growths removed and is developing normally.
5 citations
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
November 2008 in “British Journal of Hospital Medicine” Non-drug methods effectively managed agitation in a patient with a heart device, leading to improved mental function.
41 citations
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December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
21 citations
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June 2010 in “Anais Brasileiros De Dermatologia” The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
1 citations
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November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
7 citations
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July 2019 in “Scientific Reports” Finasteride helps reduce heart enlargement in heart failure patients.
April 2021 in “The journal of heart and lung transplantation/The Journal of heart and lung transplantation” Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
2 citations
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July 2022 in “Cureus” Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
April 2026 in “Clinical Case Reports” A strict gluten-free diet can improve liver issues in celiac disease.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
April 2016 in “Journal of The American Academy of Dermatology” People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
13 citations
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February 2016 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Mice without active or present vitamin D receptors maintain normal blood sugar control and islet gene expression when calcium levels are normal.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
July 2023 in “Media Dermato Venereologica Indonesiana” Vitamin D supplements should be used cautiously in sarcoidosis patients, with regular monitoring to avoid high calcium levels.
2 citations
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September 2019 in “Acta Cardiologica” Women with non-classic congenital adrenal hyperplasia have higher risk for heart and metabolic problems.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
June 2026 in “The Journal of Sexual Medicine” Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.
1 citations
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
April 2019 in “Journal of the Endocrine Society” A rare adrenal tumor in a woman only made DHEA-S, causing hair thinning, and was removed, fixing the hormone level.
33 citations
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October 2018 in “BMJ Case Reports” Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.