12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
14 citations
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June 2005 in “PubMed” A rare ear cyst contained hair fragments.
1 citations
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January 2018 in “Indian journal of otolaryngology and head and neck surgery” The new surgery method successfully healed the patient's nasal wound without complications.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
May 2024 in “Anais Brasileiros de Dermatologia”
6 citations
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July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
2 citations
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June 2003 in “American Journal of Dermatopathology” A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
1 citations
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January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
November 2025 in “Frontiers in Oral Health” Accurate diagnosis and management of rare genian fistulas require combined clinical, radiologic, and histopathologic evaluations.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
24 citations
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July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
2 citations
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October 2024 in “Indian Journal of Orthopaedics” 41 citations
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January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
28 citations
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June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
14 citations
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October 2003 in “Annals of Oncology” About half the patients treated with capecitabine and docetaxel developed severe hand-foot syndrome.
September 2024 in “Journal of the American Academy of Dermatology”
1 citations
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May 2023 in “Cureus” A rare hair follicle tumor in the hand was successfully removed with no return after four years.
3 citations
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February 2021 in “Pediatric rheumatology online journal” A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
16 citations
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May 2017 in “Journal of Clinical Ultrasound” A rare finger tumor was imaged, showing a unique pattern not seen before.
8 citations
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May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
January 2026 in “Cellular and Molecular Bioengineering” A 3D model of Dupuytren’s disease was developed for better drug testing.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
May 2021 in “Indian journal of forensic medicine and toxicology” Two patients with heart issues had successful surgeries and improved symptoms.
September 1998 in “Journal of The European Academy of Dermatology and Venereology” Old people's nails often have problems due to body changes, more diseases, and self-care difficulties, affecting their movement and hand use.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.