72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
6 citations
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August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
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.
23 citations
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November 2018 in “Journal of the European Academy of Dermatology and Venereology” The study concluded that severity of Frontal fibrosing alopecia is not linked to how long someone has it, can start before menopause, and eyebrow loss may be an early sign.
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.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
May 2025 in “Skin Appendage Disorders” Frontal fibrosing alopecia can be diagnosed by examining facial areas and treated with specific medications to stop its progression.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
2 citations
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April 2018 in “Journal of Investigative Dermatology” Frontal fibrosing alopecia shows increased inflammation and JAK-STAT pathway activity without reduced hair proteins.
5 citations
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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.
9 citations
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January 2005 in “Pediatric Dermatology” Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
68 citations
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May 2016 in “Experimental dermatology” FFA's causes may include environmental triggers and genetic factors.
13 citations
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January 2019 in “Skin appendage disorders” FAPD is a possible diagnosis for hair loss in patients of color and requires multiple evaluations for accurate diagnosis.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
July 2001 in “Pediatrics in review” The girl's increased hair growth and other symptoms were due to a hormone-secreting ovarian tumor, which was successfully treated with surgery.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
45 citations
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July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
March 2025 in “Journal of Clinical Medicine” Frontal fibrosing alopecia in men is often misdiagnosed and needs better diagnostic criteria and treatment strategies.
9 citations
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January 2020 in “Postepy Dermatologii I Alergologii” Frontal fibrosing alopecia is a poorly understood condition with increasing cases and unclear treatment effectiveness.
1 citations
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August 2018 in “Journal of the American Academy of Dermatology” A young woman developed facial bumps before hair loss, which is unusual for her condition.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
February 2026 in “Pediatric Dermatology”