1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
January 2026 in “Indian Journal of Ophthalmology - Case Reports” Trichilemmal cysts can appear on children's eyelids and may be mistaken for other conditions.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
2 citations
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May 2016 in “Journal of dermatology” Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
3 citations
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February 2017 in “The American journal of dermatopathology/American journal of dermatopathology” Sarcoidosis can mimic other skin disorders, making diagnosis challenging.
May 2025 in “Journal of Inflammation Research” A combination of ixekizumab and tofacitinib successfully treated severe scalp cellulitis, leading to hair regrowth.
17 citations
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June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
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.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
May 2025 in “JAAD reviews.” Current treatments for neutrophilic alopecias in children are limited and often ineffective, especially for males and those of Afro-Caribbean descent.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
April 2025 in “Pediatric Dermatology” Scalp biopsies are essential for diagnosing congenital alopecia areata.
87 citations
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July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
33 citations
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February 2011 in “International Journal of Dermatology” Orange spots in scalp trichoscopy can help diagnose scalp sarcoidosis.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
5 citations
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January 2009 in “International Journal of Trichology” Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
3 citations
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August 2018 in “Therapeutics and Clinical Risk Management” Corticosteroid therapy for alopecia areata can cause severe hip bone damage.
January 1983 in “Archives of Dermatology” Penicillium might rarely cause scalp infection in children.
2 citations
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July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
5 citations
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June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
January 2017 in “Springer eBooks” 18 citations
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November 2003 in “Australasian Journal of Dermatology” Hair loss in this case was caused by a tumor, not typical baldness.