September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
Surgical repigmentation can permanently restore color to white hair in vitiligo patients.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
PmtHEE is a better model for studying pigmented skin because it includes melanocytes and shows improved cell differentiation.
9 citations
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June 2017 in “The American journal of dermatopathology/American journal of dermatopathology” The study found increased skin pigmentation and variable melanocyte density in a patient with Addison's disease.
3 citations
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November 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Entrepreneurial companies are key to advancing dermatology treatments and patient care.
April 2010 in “The Journal of Urology” The research found that androgens help control blood flow in the rat prostate through a specific binding site.
January 2023 in “Skin appendage disorders” Hair restoration surgery can change the appearance of hair when examined with a special magnifying tool.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
142 citations
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August 2015 in “Arthritis & Rheumatology” Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
1 citations
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October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
5 citations
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October 2012 in “Veterinary Pathology” A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.
1 citations
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January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
4 citations
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November 2024 in “Current Opinion in Genetics & Development”
1 citations
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January 2015 in “Annals of Dermatology” Cocaine possibly mixed with levamisole caused a woman's skin condition and blood issues, which improved with treatment.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
December 2023 in “Clinical, cosmetic and investigational dermatology” The study found that white hair in vitiligo has specific patterns and structures, which vary with the stage of the disease and may be similar to another hair condition.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
2 citations
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June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Corneal regeneration relies on distinct stem cell compartments in the limbal niche.
64 citations
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June 2014 in “Journal of The American Academy of Dermatology” Researchers found a white halo around hair in most patients with a specific type of hair loss, which helps in early diagnosis and treatment.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
2 citations
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July 2018 in “Chinese Journal of Dermatology” Sebaceous nevus changes with age, and dermoscopy and RCM are effective for diagnosis.
March 2017 in “Dermatologic Surgery” 30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.