September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
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.
April 2013 in “Journal of the American Academy of Dermatology” Diabetic patients often have ingrown nails due to obesity, high blood pressure, past injuries, bad nail trimming, nail fungus, weak foot pulse, and weak knee reflex.
1 citations
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October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
42 citations
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September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
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.
February 2022 in “Obstetrics and gynaecology cases - reviews” PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
7 citations
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January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
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.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
June 2026 in “Clinical Case Reports” Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
1 citations
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November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
3 citations
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April 2012 in “Internal and Emergency Medicine” The girl's swelling and skin issues improved with fluid restriction and diuretics.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
Trichorrhexis nodosa causes hair to break easily, often affecting young to middle-aged black women.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
2 citations
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June 2023 in “Clinical and Experimental Neuroimmunology” Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
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.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
35 citations
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September 2003 in “Archives of dermatology” Tiger tail bands in hair are caused by wavy hair fibers with melanin, unlike straight fibers in normal hair.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.