11 citations
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December 2010 in “Archives of Dermatology” A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
December 2022 in “The journal of pediatrics/The Journal of pediatrics” A young girl's foot lesion was actually a rare condition caused by a hair fragment under the skin, not a parasite.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
21 citations
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June 2010 in “Anais Brasileiros De Dermatologia” The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
June 2025 in “Indian Journal of Dermatology” A rare skin condition was identified and planned for treatment in an elderly man.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
99 citations
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
34 citations
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March 2015 in “Clinical and Experimental Dermatology” People with pemphigus are more likely to have conditions like hypothyroidism, inflammatory bowel disease, and diabetes.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
August 2019 in “Anais Brasileiros de Dermatologia”
3 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” Some people with primary cicatricial alopecia also have inflammatory bowel disease, suggesting a possible connection.
47 citations
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March 2017 in “Clinical, cosmetic and investigational dermatology” Certain skin conditions may indicate or increase the risk of Parkinson's disease.
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
105 citations
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October 2018 in “Nature” A small group of slow-growing cells causes basal cell carcinoma to return after treatment.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
10 citations
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April 2013 in “Veterinary dermatology” A new skin disease in four Labrador retrievers responded well to immunosuppressive treatment.
August 2018 in “Journal of Investigative Dermatology” A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
August 2025 in “Brazilian Journal of Hair Health” Hair-related body dysmorphic disorder is common in hair loss patients and needs early recognition for proper treatment.
1 citations
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
59 citations
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November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
2 citations
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January 2022 in “JAAD Case Reports” The rash resolved after stopping ponatinib.
3 citations
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October 2013 in “International Journal of Rheumatic Diseases” A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.
13 citations
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June 2011 in “PubMed” The patient improved significantly after treatment, with only one small scar remaining.
4 citations
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
2 citations
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March 2012 in “Hiroshima University Acedemic Information Repository (Hiroshima University)” Kainar syndrome symptoms may be linked to nuclear test exposure effects.
12 citations
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November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.