January 2016 in “Case reports in clinical medicine” A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
July 2022 in “British Journal of Dermatology”
10 citations
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January 2012 in “Lupus” NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
Type XVII collagen helps control skin cell growth and rejuvenates skin.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
January 2019 in “日本皮膚科学会雑誌”
19 citations
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August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
17 citations
,
January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
21 citations
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January 2016 in “Skin appendage disorders” Alfredo Rebora suggested a new, easier way to classify hair loss in Telogen Effluvium, adding a type possibly related to autoimmune diseases.
Early diagnosis of imperforate hymen is crucial to prevent complications.
1 citations
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January 2014 in “Indian journal of dermatology, venereology, and leprology” The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
3 citations
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January 2021 in “Therapeutic advances in infectious disease” A 9-year-old girl with a healthy immune system was successfully treated for a severe fungal scalp infection caused by Microsporum audouinii.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
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.
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.
2 citations
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November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
7 citations
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May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
29 citations
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September 1989 in “Journal of The American Academy of Dermatology” Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” Postmenopausal women with unusual hair growth should be checked for ovarian tumors.
14 citations
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November 1979 in “Pediatric Research” December 2021 in “Zenodo (CERN European Organization for Nuclear Research)” Long-COVID can cause lasting symptoms, but treatment with Erbisol drugs may help.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
January 2014 in “Progress of Digestive Endoscopy” Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
4 citations
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June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
10 citations
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April 2013 in “Veterinary dermatology” A new skin disease in four Labrador retrievers responded well to immunosuppressive treatment.
November 2023 in “Heliyon” A woman got a serious eye infection after a hair loss treatment due to improper procedure.
5 citations
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March 2008 in “DMW - Deutsche Medizinische Wochenschrift” A man was poisoned with thallium, treated successfully, but still had some nerve issues after 6 months.