April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
65 citations
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August 2016 in “Metabolic brain disease” Children with autism have lower levels of essential and toxic trace elements in their hair.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
September 2021 in “CRC Press eBooks” CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
2 citations
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March 2020 in “JAAD case reports” A leukemia patient showed skin peeling similar to kwashiorkor, a severe protein deficiency.
32 citations
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
22 citations
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May 2005 in “Journal of the European Academy of Dermatology and Venereology” People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
December 1972 in “Archives of Dermatology” The girl has an inflammatory type of scarring hair loss.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
20 citations
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July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
Iron deficiency worsens inflammatory skin diseases by disrupting iron balance and increasing inflammation.
November 2022 in “Journal of the Endocrine Society” Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.
2 citations
,
May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
9 citations
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July 2022 in “EMBO molecular medicine” Blocking certain immune signals can reduce skin damage from radiation therapy.
May 2025 in “The Journal of Rheumatology” Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
12 citations
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
11 citations
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January 2013 in “Indian Dermatology Online Journal” CCCA is a common, progressive hair loss condition that may not always be linked to hair care practices and requires a biopsy for diagnosis.
February 2026 in “Dermatology Reports” Trichoscopy helps diagnose and treat dissecting cellulitis early, preventing scarring.
11 citations
,
November 1991 in “Journal of Neuropathology & Experimental Neurology” Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
13 citations
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June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
15 citations
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March 2008 in “The Journal of Dermatology” Topical squaric acid dibutylester worsened discoid lupus erythematosus in a patient.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.