March 2026 in “Skin Appendage Disorders” Diagnosing and treating monilethrix is challenging when it occurs with other hair disorders.
37 citations
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
4 citations
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December 2024 in “International Journal of Dermatology” Mohs micrographic surgery is more effective than surgical excision for treating pilomatrix carcinoma, with no recurrences.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
July 2019 in “Cancer Research” Bone marrow and hair follicle cells help form skin tumors, suggesting new treatment targets.
5 citations
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September 2012 in “Journal of Investigative Dermatology” Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
November 2023 in “BMJ case reports” A man in his 30s had patchy hair loss on his leg due to primary follicular mucinosis.
86 citations
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December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
150 citations
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October 2010 in “The American Journal of Pathology” The document concludes that more research is needed to better understand and treat primary cicatricial alopecias, and suggests a possible reclassification based on molecular pathways.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
20 citations
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April 1959 in “A M A Archives of Dermatology” Alopecia mucinosa causes red, raised skin patches and hair loss.
2 citations
,
January 2018 The document reports the 19th global case of a rare skin condition in a patient from Colombia.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
November 2023 in “International surgery journal” A man's neck lump was a trichilemmal cyst, not cancer, and should be fully removed due to rare risk of becoming malignant.
9 citations
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August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
October 2025 in “Portuguese Journal of Dermatology and Venereology” Accurate diagnosis of facial skin tumors requires detailed analysis to distinguish between benign and malignant types.
99 citations
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August 2009 in “Nature Genetics” Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
Laser hair removal may cause skin changes that prevent hair regrowth.
22 citations
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March 2007 in “European journal of pediatrics” Certain types of mucopolysaccharidoses cause significant hair abnormalities.
May 1979 in “Archives of Dermatology” Alopecia can be linked to autoimmune issues, vitiligo, nail problems, and sometimes cancer treatments.
July 1974 in “Archives of dermatology” The woman's widespread skin condition did not improve despite various treatments.
10 citations
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May 2017 in “Wound Repair and Regeneration” Overexpression of ALK2 in hair follicles disrupts skin development and slows wound healing.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
November 2021 in “Transplantation direct” A 68-year-old man improved after being correctly diagnosed and treated for a skin condition caused by mites, following a stem cell transplant.
January 2016 in “Dermatology online journal” A 15-year-old girl has a benign skin tumor on her neck.
January 2005 in “Journal of Cutaneous Pathology” A new benign nail tumor called onychoblastoma was identified.