August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
November 2021 in “Research Square (Research Square)” A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.
January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
4 citations
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October 2008 in “International Journal of Dermatology” A toddler's chronic finger ulcer was successfully treated after removing a hair causing hair-thread tourniquet syndrome.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
January 2025 in “Case Reports in Medicine” Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.
6 citations
,
January 2018 in “Dermato-endocrinology” Darkened knuckles can be an early sign of insulin resistance.
2 citations
,
January 2018 in “PubMed” The man's symptoms improved and the tumor shrank after treatment with cabergoline.
October 2025 in “Journal of the Endocrine Society” Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
February 2025 in “International Journal of Impotence Research”
7 citations
,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
3 citations
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November 1977 in “JAMA” Hair casts can be mistaken for lice, causing unnecessary stress.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
13 citations
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March 2011 in “Acta Paediatrica” Tinea capitis needs systemic treatment to avoid severe outcomes.
10 citations
,
April 2003 in “Clinical neurology and neurosurgery” Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
4 citations
,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
Mechanical stress causes ligament thickening through WISP-1 and Hedgehog signaling.
13 citations
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December 2010 in “Annales de Dermatologie et de Vénéréologie” The conclusion is that skin, mucous, and eye problems after Stevens-Johnson syndrome and Lyell syndrome significantly affect patients' lives, highlighting the need for comprehensive care and eye check-ups.
6 citations
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January 2011 in “European Journal of Dermatology” It's important to consider genetic hair disorders when diagnosing hair loss.
10 citations
,
June 2019 in “Case reports in dermatology” LALPS causes non-scarring hair loss along the Blaschko line, with unique trichoscopic findings.
5 citations
,
July 2009 in “Clinical and experimental dermatology”
December 2025 in “Philippine Journal of Internal Medicine” Early recognition and tailored treatment are crucial for managing overlapping systemic lupus erythematosus and systemic sclerosis.
2 citations
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August 1993 in “Archives of Dermatology” A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.