1 citations
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April 2017 in “Journal of Investigative Dermatology” ZNF750 and MPZL3 are important in causing seborrheic dermatitis.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
37 citations
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February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
June 2018 in “Journal of Clinical Periodontology” A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
61 citations
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April 1980 in “Journal of the American Academy of Dermatology” A new syndrome may link skin, growth, mental, and hair issues.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
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.
1 citations
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August 1946 in “Archives of dermatology” The meeting highlighted the complexity and variability of skin conditions and differing opinions on their diagnoses and treatments.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
83 citations
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July 2008 in “Current Opinion in Chemical Biology” The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
April 2015 in “Journal of Nutritional Therapeutics” Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
29 citations
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October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
10 citations
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January 2012 in “Lupus” NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
19 citations
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August 2024 in “Cell Host & Microbe” January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
3 citations
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April 2015 in “Cleveland Clinic Journal of Medicine” The woman has scurvy and needs more vitamin C.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
April 2017 in “Plastic & Reconstructive Surgery Global Open” Hyaluronan from Has2 is important for proper wound healing and hair follicle development.
99 citations
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January 2004 in “Journal of Biological Chemistry” Methylprednisolone helps skin cells stick together better in pemphigus vulgaris.
2 citations
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May 2024 in “International Journal of Molecular Sciences” Targeting CD169+ skin macrophages may help treat psoriasis.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
291 citations
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January 2014 in “The Scientific World Journal” Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
8 citations
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October 2018 in “Journal of the European Academy of Dermatology and Venereology” Mohs micrographic surgery is effective for early-stage non-melanoma skin cancers on the lips, with basal cell carcinoma more common on the upper cutaneous lip and squamous cell carcinoma more common on the lower vermilion lip.
April 2026 in “Metabolites” Chronic skin diseases and metabolic syndrome are linked by shared inflammation pathways.