3 citations
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February 2022 in “Dermatology practical & conceptual” The study concludes that early diagnosis of Frontal Fibrosing Alopecia is important, as it is often found in postmenopausal women, may be related to Lichen Planopilaris, and eyebrow hair loss is a common sign.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
23 citations
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March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
1 citations
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February 2024 in “Journal of the European Academy of Dermatology and Venereology” Certain genetic factors may contribute to frontal fibrosing alopecia in Brazil.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
5 citations
,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
18 citations
,
November 2012 in “Australasian Journal of Dermatology” A 66-year-old man with a rare case of male frontal fibrosing alopecia did not regrow hair despite treatment.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
1 citations
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June 2021 in “Computer methods and programs in biomedicine” Children with cancer had slightly more unusual facial shapes than healthy kids, but not enough to easily tell them apart.
2 citations
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February 2021 in “Endocrinology, diabetes & metabolism case reports” A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
6 citations
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June 2016 in “Experimental Dermatology” Frontal Fibrosing Alopecia is a poorly understood condition that is hard to treat and causes distressing hair loss.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
8 citations
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January 2005 in “SKINmed Dermatology for the Clinician” FMF and mycosis fungoides are variants of the same disease, and bexarotene can be an effective treatment.
July 2024 in “Iranian journal of pathology” Frontal fibrosing alopecia mainly affects women over 50, causing hair loss and specific skin changes.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
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.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
1 citations
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September 2023 in “Portuguese Journal of Dermatology and Venereology” Trichoscopy can help diagnose and decide when to biopsy folliculotropic mycosis fungoides.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
August 2016 in “Journal of the Portuguese Society of Dermatology and Venereology” Two women with darker skin had both frontal hair thinning and skin discoloration.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
8 citations
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October 2016 in “Actas Dermo-Sifiliográficas” FFA in men, often mistaken for other hair loss types, may be more common than thought and needs larger studies for confirmation.