January 2014 in “Pathology” RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
Controlling Tslp can improve health in AEC syndrome patients.
89 citations
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August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
July 2025 in “Frontiers in Medicine” Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
July 2022 in “Indian Journal of Otology” A rare ear-area hair cyst was successfully removed from a 10-year-old boy.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
August 2018 in “Journal of The American Academy of Dermatology” A 16-year-old girl's skin rash was likely caused by an infection and improved with topical steroids.
7 citations
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January 2012 in “International Journal of Trichology” Two siblings both had a rare case of alopecia areata at the same time.
Dissecting cellulitis of the scalp mainly affects Black males and requires early diagnosis and management.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
4 citations
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December 2012 in “Human Biology” The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
35 citations
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March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
1 citations
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January 2022 in “Advances in Dermatology and Allergology” Most patients with cutaneous lupus erythematosus in Bangladesh are young women, with chronic forms and photosensitivity being common.
January 2022 in “Skin Appendage Disorders” Areata-like lupus can mimic alopecia areata but is a form of cutaneous lupus erythematosus.
April 2016 in “Journal of Investigative Dermatology” Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
44 citations
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
June 2025 in “British Journal of Dermatology” Better diagnostic and treatment strategies are needed for acne keloidalis nuchae, especially in high-risk groups.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
17 citations
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December 1994 in “International Journal of Dermatology” Recognizing both trichostasis spinulosa and eruptive vellus hair cysts together is crucial for accurate diagnosis and treatment.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
March 2021 in “Revista da Associação Médica Brasileira”
5 citations
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May 2021 in “BMC surgery” A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
1 citations
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July 2024 in “Journal of Investigative Dermatology” Immune cells boost stem cell activity in hairy moles, causing more hair growth.
33 citations
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
33 citations
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April 2020 in “Journal of Clinical Investigation” Stress in hair follicle stem cells causes inflammation in a chronic skin condition through a specific immune response pathway.
October 2011 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Certain gene variations are significantly linked to hair loss, especially in white people.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.