9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
10 citations
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January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
16 citations
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January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
Alopecia universalis may be linked to Down syndrome due to genes on chromosome 21.
5 citations
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January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
37 citations
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April 2013 in “PLoS ONE” Thymosin Beta 4 helps human dental pulp cells develop into tooth-forming cells, suggesting it could aid dental regeneration.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
April 2018 in “Journal of Investigative Dermatology” People with palmoplantar pustulosis, especially with bone issues, have different mouth bacteria compared to healthy people.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
January 2024 in “Srpski arhiv za celokupno lekarstvo” Long-term diabetes, smoking, and poor blood sugar control increase the risk of artery disease in diabetic retinopathy patients.
22 citations
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May 2007 in “Molecular Biotechnology” 1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
September 2024 in “Journal of the American Academy of Dermatology”
January 2016 in “Human & Experimental Toxicology” A specific DNA sequence caused hair loss in male mice by activating immune cells and increasing a certain immune signal.
September 2021 in “CRC Press eBooks” Erosive pustular dermatosis of the scalp causes painful, scarring skin lesions on the scalp, mainly in elderly people with sun-damaged skin.
30 citations
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June 2013 in “Optometry and vision science” Following a specific clinical sequence can help diagnose and treat Demodex mites in the eyes.
December 2025 in “Journal of Veterinary Clinics” CO₂ laser surgery successfully healed a dog's chronic paw condition.
January 2024 in “Wiadomości Lekarskie” Virtual surgical planning improves efficiency, coordination, and precision in complex surgeries.
1 citations
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March 2024 in “PubMed” Surgery with a carbon-dioxide laser successfully treated a Labrador's tongue condition, but some hair regrew.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
101 citations
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July 1985 in “Journal of the American Academy of Dermatology” Biotin improved hair growth and combability in one child with uncombable hair syndrome.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
Additional surgeries are often needed to fix facial issues in patients with orofacial clefts.
3 citations
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September 2018 in “Journal of Structural Biology” Oxidized trichocyte keratin has a helical dislocation in its structure.
April 2024 in “Anais Brasileiros de Dermatologia”
December 2025 in “Clinical Cosmetic and Investigational Dermatology” Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.