February 2026 in “Clinical Cosmetic and Investigational Dermatology” A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
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.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
September 2021 in “CRC Press eBooks” CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
22 citations
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January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
September 2021 in “CRC Press eBooks” Fibrosing alopecia in a pattern distribution is a type of hair loss that may often be overlooked, especially in men.
July 1974 in “Archives of dermatology” The woman's widespread skin condition did not improve despite various treatments.
2 citations
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December 2018 Alopecia frontal fibrosante affects facial vellus hair and can be diagnosed with dermatoscopy.
1 citations
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April 2010 in “Expert Review of Dermatology” The document concludes that early diagnosis and treatment are crucial for managing rare hair loss disorders and that more research is needed to improve treatment strategies.
February 2013 in “Journal of the American Academy of Dermatology”
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.
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.
June 2023 in “JAAD case reports” A rare scalp condition, cutis verticis gyrata, was found in a woman with primary scarring alopecia.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
61 citations
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January 2019 in “American Journal of Clinical Dermatology” The cause of Frontal Fibrosing Alopecia is unclear, diagnosis involves clinical evaluation and various treatments exist, but their effectiveness is uncertain.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
10 citations
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October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
5 citations
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July 1988 in “British journal of dermatology/British journal of dermatology, Supplement” Diphencyprone therapy can effectively treat severe hair loss in motivated patients.
July 2023 in “Nasza Dermatologia Online” More research is needed on CCCA in children, especially Black and Asian adolescents.
13 citations
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July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.
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.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
9 citations
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March 2017 in “JAAD Case Reports” A woman's scalp condition improved with specific ointment after a hair piece caused skin issues.
1 citations
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August 2018 in “Journal of the American Academy of Dermatology” June 2020 in “Journal of Drugs in Dermatology” Frontal fibrosing alopecia can be misdiagnosed as androgenetic alopecia in African American women.
2 citations
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January 2019 in “Skin appendage disorders” Early diagnosis and quick treatment improve life quality for FFA patients.