Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
6 citations
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December 2011 in “Clinical and Experimental Dermatology” A woman developed rare, unexplained curly hair on her scalp and eyelashes.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
1 citations
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January 2009 in “The Open Dermatology Journal” Chemotherapy caused nail grooves and separation, but they healed after treatment stopped.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
4 citations
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January 2025 in “Clinical Cosmetic and Investigational Dermatology” Papular acantholytic dyskeratosis of the vulva is a rare, benign skin condition that can be managed conservatively.
April 2025 in “Revista Digital de Postgrado” Severe malnutrition in young children causes various skin and nail issues, mainly pigmentation changes and extreme thinness.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
6 citations
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January 2014 in “Pediatric annals” A 21-day-old baby had a skin rash that didn't improve with cream and wasn't caused by a fungus.
17 citations
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July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
November 2020 in “Journal of The American Academy of Dermatology” Ankle braces reduce motion, while external focus improves hip and knee movements.
July 2025 in “Case Reports in Dermatology” Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.
33 citations
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August 2013 in “Current Opinion in Ophthalmology” Frontalis suspension surgery using autologous fascia lata is effective for treating unilateral congenital ptosis with poor levator function.
Mutations in specific genes cause different types of ectodermal dysplasias.
9 citations
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January 2001 in “Dermatology” Pili anulati may cause hair loss, proper diagnosis and treatment needed.
1 citations
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March 2006 in “Journal of Cosmetic Dermatology” The woman's forehead lesion was caused by ointment use and resolved with treatment.
31 citations
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August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
May 2015 in “Journal of The American Academy of Dermatology” The Nd:YAG laser is a successful and safe way to treat ingrown and pincer nails.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
88 citations
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March 2004 in “Journal of Investigative Dermatology” 11 citations
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January 2015 in “JOURNAL OF HEALTH SCIENCE” A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
26 citations
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October 1999 in “Archives of Dermatology” Curly hair in certain scalp areas can be an early sign of hair loss.
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
25 citations
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January 2003 in “Plastic & Reconstructive Surgery” Nail-matrical fibroblasts can make non-nail cells produce hard keratin, useful for nail repair.
7 citations
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November 2017 in “Cureus” Ear creases might indicate heart disease risk, needing more research.
1 citations
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January 2021 in “Dermatology Review” A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
1 citations
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June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
8 citations
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August 2019 in “ACR Open Rheumatology” Defective repair processes may cause immune activation and inflammation in psoriatic disease.