8 citations
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June 2019 in “Orphanet journal of rare diseases” Corticosteroids are the most effective treatment for Satoyoshi syndrome.
Early diagnosis and management of Sheehan's syndrome are crucial for improving quality of life and fertility.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
37 citations
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June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
55 citations
,
May 1970 in “New England Journal of Medicine” Scurvy may cause symptoms similar to Sjögren's syndrome, which disappear with vitamin C.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
372 citations
,
December 2004 in “Nature Genetics” July 2025 in “Dermatology Practical & Conceptual” Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
6 citations
,
April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
January 2022 in “Journal of Morphological Sciences” A woman's rare ovarian tumor was treated with surgery, which stopped her symptoms and normalized her hormone levels.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
October 2025 in “Journal of the Endocrine Society” Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
11 citations
,
November 2020 in “Movement Disorders Clinical Practice” A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
2 citations
,
January 2016 in “Gynecological Endocrinology” A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
1 citations
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September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
1 citations
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July 2025 in “Dermatology Reports” Syphilis treatment resolved hair loss and eye symptoms, highlighting its importance in diagnosing unusual alopecia.
March 2026 in “JCEM Case Reports” Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.
1 citations
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January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
July 2023 in “Research Square (Research Square)” Two patients got Cushing's syndrome after treatment with Triamcinolone Acetonide for mouth fibrosis, but recovered after stopping the treatment.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
4 citations
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May 2022 in “Journal of Nepal Medical Association” Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
1 citations
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December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
33 citations
,
December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
2 citations
,
October 1931 in “Archives of Dermatology and Syphilology” A rare scalp infection in a child developed into a kerion with additional skin symptoms.
1 citations
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September 2002 in “European Journal of Endocrinology” Triple H syndrome exists and can vary in symptoms.