188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
1 citations
,
August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
6 citations
,
November 1977 in “Archives of Dermatology” A 6-year-old girl in the U.S. had a rare scalp infection caused by *Trichophyton soudanense*.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
March 2012 in “Journal of The American Academy of Dermatology” Higher levels of certain nerve-related proteins are linked to hair loss in women with scalp pain.
27 citations
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June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
24 citations
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July 2005 in “Journal of the American Academy of Dermatology” A woman's eyelashes grew thicker and longer after taking topiramate, but returned to normal when she stopped the medication.
1 citations
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February 2005 in “The Journal of Laryngology & Otology” A fungal infection in the neck caused severe breathing issues, treated successfully with antibiotics and antifungal medication.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
March 2012 in “Journal of The American Academy of Dermatology” Temporal triangular alopecia usually starts in early childhood and treatment with Minoxidil has limited effectiveness.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
21 citations
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January 2010 in “International journal of trichology” Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
December 1972 in “Archives of Dermatology” The girl has an inflammatory type of scarring hair loss.
1 citations
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January 1995 in “Skin Cancer” Immunohistochemistry helps accurately identify and differentiate malignant trichilemmoma.
19 citations
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December 2006 in “Journal of Structural Biology” Type I and Type II keratin chains can form heterodimers despite sequence differences.
1 citations
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January 2018 in “International Journal of Trichology” Circle hairs are harmless, spiral-shaped body hairs that don't need medical treatment.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
17 citations
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April 1997 in “American Journal of Dermatopathology” PC-associated alopecia has unique microscopic features.
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.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
21 citations
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July 2005 in “European Journal of Emergency Medicine” Hair-tourniquet syndrome can cause serious toe injuries in infants but can be treated if found early.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
40 citations
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August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
1 citations
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
5 citations
,
March 1943 in “Archives of Dermatology and Syphilology” A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
1 citations
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August 2021 A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.