January 2023 in “Integrative Journal of Medical Sciences” A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
22 citations
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March 2007 in “European journal of pediatrics” Certain types of mucopolysaccharidoses cause significant hair abnormalities.
January 2018 in “Springer eBooks” Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
10 citations
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January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
2 citations
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November 2017 in “Case Reports” A baby boy's toe was saved from damage caused by hair strangulation by quick surgical treatment.
May 2017 in “Journal of The American Academy of Dermatology” An intact skin barrier is crucial to prevent infection in cases of tether-induced tenosynovitis.
264 citations
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October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
93 citations
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May 2002 in “Journal of Investigative Dermatology” Overexpressing thrombospondin-1 in mice skin prevents UVB-induced skin damage.
1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
26 citations
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
8 citations
,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
7 citations
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January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
January 2015 in “프로그램북(구 초록집)” A 25-year-old man had an unusual case of benign skin tumors and hair loss.
April 2023 in “Pediatric Dermatology” A 1-year-old boy developed excessive hair growth from exposure to a hair growth treatment.
1 citations
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January 2019 in “Pan African Medical Journal” Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
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.
4 citations
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July 2024 in “Radiotherapy and Oncology” A standardized scoring system is needed to improve model reliability for predicting hair loss in brain tumor patients treated with proton therapy.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
September 2025 in “Egyptian Journal of Dermatology and Venerology” Dermoscopy is crucial for diagnosing rare scalp tumors like trichofolliculoma.
ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
9 citations
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August 2017 in “Journal of comparative pathology” Trichoblastomas in rabbits are linked to uncontrolled embryonic hair growth and have distinct histological features.
26 citations
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February 1991 in “PubMed” Trichotillomania can be identified by a "Friar Tuck sign" and nail-biting.
October 2025 in “Portuguese Journal of Dermatology and Venereology” Accurate diagnosis of facial skin tumors requires detailed analysis to distinguish between benign and malignant types.
December 2023 in “Journal of ethnopharmacology” Tribuloside can increase skin pigmentation by enhancing melanin production and distribution.
3 citations
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September 1973 in “Archives of dermatology” Applying a tretinoin cream can remove hair plugs and treat trichostasis spinulosa.