6 citations
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November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
1 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” This letter to the editor shares a case study of lentiginous melanoma that appears clinically malignant but histopathologically benign, involving the BRAFV600R mutation.
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, silencing P-cadherin in human scalp hair follicles reduced melanogenesis and associated protein expression, suggesting P-cadherin is crucial for normal hair pigmentation via GSK3β-mediated Wnt signaling.
4 citations
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October 2019 in “Skin Appendage Disorders” This case report describes the first known instance of hair and eyebrow hyperpigmentation in a patient after seven months of gefitinib treatment for non-small cell lung cancer.