December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
1 citations
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December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
1 citations
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September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
7 citations
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December 2016 in “British Journal of Dermatology” The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
4 citations
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October 2019 in “Case Reports” A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
1 citations
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January 2022 in “Springer eBooks” 8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
1 citations
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November 2022 in “Journal of the Academy of Consultation-Liaison Psychiatry”
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
28 citations
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June 2010 in “Pediatric dermatology” Short anagen syndrome causes short hair that may grow longer after puberty.
32 citations
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April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
3 citations
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April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
6 citations
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June 2023 in “Journal of the European Academy of Dermatology and Venereology” Inflammation damages sweat ducts, causing sweat gland injury.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
32 citations
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January 2006 in “Acta dermato-venereologica” SACUMAN, a rare condition causing hair loss without clear signs, is often misdiagnosed and needs scalp biopsies for accurate detection.
15 citations
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November 2009 in “Journal of diabetes and its complications” Patients with Type 1 diabetes should be screened for pernicious anemia.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
12 citations
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October 2001 in “Pediatric Dermatology” Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
April 2016 in “The Journal of Sexual Medicine” 1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
January 2022 in “Dermatology Review” EGFR inhibitors can cause unusual localized hair growth.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
June 2025 in “British Journal of Dermatology” Consider amyloidosis in patients with specific nail changes and check for systemic issues.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.