3 citations
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March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
86 citations
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December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
September 2021 in “Mağallaẗ al-Muẖtar li-l-ʿulūm” Two sisters have rare hair disorders causing short, fragile, kinky hair.
8 citations
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August 1970 in “JAMA” Excessive vitamin A can cause symptoms that mimic serious brain conditions.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
1 citations
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January 2013 in “Springer eBooks” The document concludes that skin and nail changes can indicate various underlying health conditions.
November 2024 in “Journal of Investigative Dermatology” Scalp hair follicle cells help protect and heal skin in certain skin conditions.
1 citations
,
July 2021 in “Clinical Cosmetic and Investigational Dermatology” Syphilis should be considered if PLEVA-like symptoms don't improve with treatment.
20 citations
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September 2005 in “Clinics in Dermatology” Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
4 citations
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September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
4 citations
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May 2020 in “The journal of pediatrics/The Journal of pediatrics” A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
52 citations
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October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
21 citations
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January 2010 in “International journal of trichology” Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
January 2026 in “Clinical Case Reports” A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
6 citations
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February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
4 citations
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January 2011 in “European journal of dermatology/EJD. European journal of dermatology” A boy had a rare scalp condition with thickened skin and different-colored hair.
7 citations
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January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
32 citations
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
2 citations
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August 1994 in “Archives of dermatology” A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
April 2020 in “Journal of the Endocrine Society” A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.