6 citations
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October 2001 in “British Journal of Ophthalmology” Intralesional cidofovir may be a viable treatment for conjunctival lesions in Melkersson-Rosenthal syndrome without systemic toxicity.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
6 citations
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
53 citations
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January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
1 citations
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September 2022 in “Canadian Journal of Ophthalmology” Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
October 2025 in “Clinical Case Reports” PRP injection for hair growth can cause reversible vision loss due to inflammatory optic neuropathy.
June 2025 in “Veterinární Medicína” Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
52 citations
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January 2001 in “Eye” Treating cystoid macular oedema in uveitis is difficult and risky.
8 citations
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December 2015 in “JAMA ophthalmology” A young man had vision loss, hair loss, and other symptoms, but tests showed mostly normal results except for slightly high protein in spinal fluid.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
September 2024 in “Dermatology Reports” Sonidegib often causes hair loss, and LC-OCT helps identify early signs.
February 2026 in “American Journal of Case Reports” AS-OCT is crucial for diagnosing VZV interstitial keratitis and avoiding unnecessary treatments.
Oral Minoxidil can cause serious eye problems, but stopping it can improve vision.
January 2023 in “Malaysian Journal of Medical Research” Early and proper treatment is crucial for children with allergic conjunctivitis to avoid complications.
July 2024 in “JAAD Case Reports” Corticosteroid injections for hair loss may cause eye problems, so caution is needed.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
84 citations
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June 1970 in “Journal of Investigative Dermatology” 30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
67 citations
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September 2001 in “American Journal Of Pathology” Inhibiting ODC can prevent UV-induced skin cancer.
August 2024 in “Case Reports in Ophthalmology” Older patients with new retinal lesions may have cancer, and local radiation might not stop it from spreading.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
1 citations
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December 2019 in “Acta Medica Medianae” Connubial contact dermatitis is often missed, making treatment harder.
5 citations
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November 2020 in “EBioMedicine” Disruptions in sleep-wake cycles can cause health problems like mental, metabolic, and heart diseases, and cancer.
May 2025 in “The Journal of Rheumatology” Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
35 citations
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September 2006 in “American Journal Of Pathology” Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
May 2026 in “BMC Medicine” ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.