June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
38 citations
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May 2017 in “Medical Science Monitor” Myositis in lupus patients is linked to skin rash, hair loss, blood issues, and high disease activity.
May 2025 in “The Journal of Rheumatology” Trans-esophageal echocardiography is crucial for accurately diagnosing heart issues in lupus patients.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
1 citations
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May 2025 in “The Journal of Rheumatology” Living with lupus as both a patient and doctor improved understanding and care for others.
April 2016 in “Journal of The American Academy of Dermatology” A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
November 2024 in “Rheumatology Advances in Practice” Visceral leishmaniasis can mimic rheumatoid arthritis symptoms, especially in immunocompromised patients.
7 citations
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January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
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.
March 2023 in “European journal of internal medicine” The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
August 2023 in “Annales de Dermatologie et de Vénéréologie” Non-scarring hair loss in lupus patients often responds well to treatment and doesn't lead to scarring.
16 citations
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March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
January 2023 in “Fiziksel tıp ve rehabilitasyon bilimleri dergisi” SLE should be considered when investigating the cause of a stroke to prevent more strokes.
9 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
42 citations
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January 2003 in “International Journal of Gynecological Pathology” PEH in vulvar LS is common and needs careful diagnosis to avoid confusion with cancer.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
March 2017 in “BIRDEM Medical Journal” Sarcoidosis can cause various skin issues, making diagnosis difficult.
September 2024 in “International Journal of Innovative Science and Research Technology (IJISRT)” Early diagnosis and aggressive treatment of lupus nephritis can prevent kidney damage and improve outcomes.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
10 citations
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June 2020 in “Journal of Cosmetic Dermatology” Frontal fibrosing alopecia may be linked to genital Lichen sclerosus through an autoimmune process.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
Lupus nephritis can cause severe kidney and blood vessel problems.