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.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Abnormal contraction of connective tissue in hair follicles causes hair loss by killing off important cells, and treating this could improve hair growth.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
Iron supplements may reverse premature graying in iron-deficient individuals; ingrown nails are common in diabetics with certain risk factors; topical finasteride may reduce scalp DHT as effectively as oral finasteride; monilethrix treatment is challenging but some medications can help.
2 citations
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April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
10 citations
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January 1925 in “Archives of Dermatology” Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
April 2025 in “Indian Journal of Paediatric Dermatology” Trichorrhexis invaginata can occur with tinea capitis, though it's rare.
November 2025 in “Frontiers in Oral Health” Accurate diagnosis and management of rare genian fistulas require combined clinical, radiologic, and histopathologic evaluations.
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.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
7 citations
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July 2006 in “Journal of cutaneous pathology” A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
1 citations
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June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
2 citations
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September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
12 citations
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March 1981 in “International Journal of Dermatology” External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
7 citations
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March 2018 in “Journal of The American Academy of Dermatology” Skin changes like hair loss, white patches, and nail changes are common in children after bone marrow transplants, often linked to chronic rejection.
7 citations
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January 2015 in “Case reports in endocrinology” The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
21 citations
,
February 2012 in “Journal of the European Academy of Dermatology and Venereology” Late-onset alopecia areata in Taiwanese patients is more common in women, usually starts at age 57, often involves less than 10% hair loss, and may have a minimal link to thyroid issues.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
7 citations
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January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
July 2019 in “Dermatology practical & conceptual” The study found that alopecia areata is strongly linked to autoimmune diseases and may indicate a genetic predisposition to such conditions.
July 2023 in “International journal of physiology” Hypertrichosis lanuginosa causes excessive fine hair growth, often linked to genetics or cancer, with limited treatment options.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
38 citations
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March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
February 2022 in “International journal of reproduction, contraception, obstetrics and gynecology” Acanthosis nigricans in teenage girls with PCOS is a sign of obesity, not insulin resistance or glucose intolerance.
2 citations
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October 2017 in “Journal of The American Academy of Dermatology” Focal atrichia helps diagnose female pattern hair loss.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
January 2016 in “Dermatology online journal” A 15-year-old girl has a benign skin tumor on her neck.
1 citations
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November 2024 in “Veterinary Dermatology” The cat's hair loss was linked to a type of cancer.