53 citations
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March 2006 in “Biopolymers” TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
7 citations
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January 2014 in “Case reports in pediatrics” A baby's toe was severely damaged by a hair tourniquet, leading to bone and tendon damage, but improved after surgery and treatment.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
January 2024 in “Arquivos de Neuro-Psiquiatria” Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
1 citations
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
7 citations
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October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
29 citations
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January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
October 2025 in “Journal of the Endocrine Society” Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
1 citations
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January 2016 in “Dermatology Online Journal” Triangular temporal alopecia can occur in adults and should be correctly identified to prevent misdiagnosis.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
3 citations
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April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
42 citations
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September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
2 citations
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August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
1 citations
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January 2013 in “International Journal of Trichology” A girl with red hair developed hair-pulling and body image disorders after being bullied for her hair color.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
July 2025 in “Dermatology Practical & Conceptual” A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery” 2 citations
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January 2014 in “Dermatology Online Journal” Hair-thread tourniquet syndrome needs more awareness and discussion in dermatology.
July 2025 in “Dermatology Practical & Conceptual” Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
January 2019 in “Clinical neuropharmacology” A girl's hair-pulling condition improved greatly after she started vitamin D treatment.