January 2020 in “JAAD case reports” Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
August 2025 in “Ophthalmic Plastic and Reconstructive Surgery” Selumetinib significantly reduced tumor size and improved vision in a child with neurofibromatosis type 1.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
14 citations
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April 2017 in “Dermatology practical & conceptual” Yellow dots are common in severe alopecia areata.
21 citations
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January 2014 in “International Journal of Trichology” The study concluded that yellow dots are a common and useful sign for diagnosing alopecia areata in dark-skinned individuals and may indicate the severity of the condition.
61 citations
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March 2009 in “The Journal of the American Board of Family Medicine” Early diagnosis and treatment of discoid lupus erythematosus improve outcomes.
2 citations
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July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
3 citations
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April 2011 in “Journal of the American Academy of Dermatology” A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
1 citations
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January 2008
12 citations
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January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
1 citations
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July 2015 in “Microscopy Research and Technique” Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
21 citations
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January 2008 in “Indian Journal of Dermatology Venereology and Leprology”
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
3 citations
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August 2024 in “Skin Research and Technology” LC-OCT can help identify lupus-related scarring hair loss by spotting unique features.
4 citations
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March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
March 2026 in “Scientific Journal” Early recognition and evaluation of nevus sebaceus are crucial to detect and manage potential cancerous changes.
5 citations
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July 2009 in “Clinical and experimental dermatology” 158 citations
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December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
October 2024 in “Indian Journal of Dermatology” Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
Moles may stop growing due to cell cooperation, not just because of individual cell aging.
1 citations
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September 2022 in “Canadian Journal of Ophthalmology” Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
6 citations
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January 2014 in “Pediatric annals” A 21-day-old baby had a skin rash that didn't improve with cream and wasn't caused by a fungus.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.