4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
6 citations
,
November 1977 in “Archives of Dermatology” A 6-year-old girl in the U.S. had a rare scalp infection caused by *Trichophyton soudanense*.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
Understanding genetics is crucial for treating heart and skin diseases.
October 2023 in “CHEST Journal” Early recognition and treatment of severe SLE symptoms can improve outcomes.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
May 2025 in “The Journal of Rheumatology” Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
November 2021 in “European Heart Journal Supplements” SLE can increase the risk of blood clots, leading to heart failure, but treatment can improve heart function.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
1 citations
,
January 2020 in “Journal of Crohn's and colitis” Many people with inflammatory bowel disease have a vitamin C deficiency, which can lead to scurvy symptoms.
1 citations
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June 2025 in “Frontiers in Pediatrics” Early detection and infection prevention are crucial for improving survival in pediatric lupus patients with aplastic anemia.
July 2016 in “Reumatología Clínica (English Edition)” The patient with Ankylosing Spondylitis had shoulder joint damage and bone changes.
February 2023 in “European biophysics journal” 10 citations
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October 1992 in “PubMed” Anti-phospholipid antibodies in SLE can cause thrombosis and bone necrosis.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
4 citations
,
December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
5 citations
,
July 2018 in “Pediatrics” A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
16 citations
,
November 2003 in “Journal of the American Academy of Dermatology” Iron therapy cured the boy's hair color issue.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
2 citations
,
August 2014 in “Journal of the American Academy of Dermatology” A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.