3 citations
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August 2012 in “The American Journal of Dermatopathology” A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
1 citations
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March 2000 in “PubMed” A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
June 2011 in “European Journal of Pediatric Dermatology” An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
6 citations
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April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
1 citations
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October 2020 in “Journal of Cosmetic Dermatology” Possible link between hair loss and metabolic syndrome, with RANTES as a potential clue.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
April 2017 in “Our Dermatology Online” A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
January 2014 in “International Journal of Trichology” A man had an unusual type of hair loss that didn't match known patterns and didn't improve with treatment.
January 2024 in “Journal of Clinical Rheumatology and Immunology” Monitor for early signs of myelosuppression, like hair loss, in patients on azathioprine to manage side effects.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
2 citations
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January 2016 in “Gynecological Endocrinology” A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
December 2023 in “Curēus” A woman with lupus had rare severe symptoms but improved with treatment.
13 citations
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February 2007 in “British Journal of Dermatology” EF and PXE not closely related.
1 citations
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September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
October 2024 in “Developmental Dynamics” Recent advances show zebrafish can model anemia, Alx4 affects craniofacial and hair development, and mTORC1 is crucial for retinal development.
1 citations
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August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
October 2024 in “Medicine” Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
5 citations
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March 2013 in “International journal of surgical pathology” Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
11 citations
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January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
June 2025 in “International Medical Case Reports Journal” Timely diagnosis and treatment of complex autoimmune diseases like APS2 are crucial to prevent complications and improve life quality.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.