21 citations
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January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
14 citations
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February 2013 in “PubMed” Patients treated with long-term intralesional corticosteroids for alopecia areata should be monitored for bone density changes and advised on osteoporosis prevention.
13 citations
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July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
6 citations
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November 2023 in “Clinical Pharmacokinetics” Ritlecitinib shows promise as a versatile treatment for various autoimmune and inflammatory diseases.
October 2024 in “Dermatologica Sinica” Recognizing unusual symptoms in Crohn's disease is crucial for proper treatment.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
October 2025 in “Modern pediatrics Ukraine” Early diagnosis of celiac disease in children is crucial for effective treatment.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
10 citations
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October 1993 in “Archives of dermatological research” Vitamin D compounds may help treat psoriasis by promoting skin cell differentiation.
December 2023 in “Journal of Ayub Medical College Abbottabad” Ritlecitinib effectively treats alopecia areata in patients 12 and older with fewer side effects.
1 citations
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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.
81 citations
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June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
September 2024 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” COVID-19 vaccination may be linked to MIS-C in children, highlighting the need for quick diagnosis and treatment.
7 citations
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December 2016 in “British Journal of Dermatology” The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
July 2022 in “Clinical dermatology review” Most patients with chronic kidney disease had skin issues like paleness and dry skin, and treating these can improve their lives.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
June 2026 in “Quality in Sport” Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a complex autosomal recessive disorder affecting adrenal steroidogenesis, leading to cortisol and aldosterone deficiency and excess adrenal androgens. This systematic review highlights the disorder's broad clinical spectrum, necessitating a multidisciplinary approach for diagnosis and treatment. Universal newborn screening using 17OHP measurement has reduced mortality from adrenal crises, especially in boys. Current treatments with hydrocortisone and fludrocortisone are effective but imperfect, as they do not mimic the natural circadian rhythm of cortisol and carry long-term risks. Future therapeutic options, such as CRF receptor antagonists, ACTH secretion inhibitors, and gene therapy, are promising but not yet standard practice.
7 citations
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July 1979 in “Archives of Dermatology” Patients with renal disease should be cautious with vitamin A supplements due to risk of toxicity.
2 citations
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October 1931 in “Archives of Dermatology and Syphilology” A rare scalp infection in a child developed into a kerion with additional skin symptoms.
1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
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.
4 citations
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April 2024 in “Journal of Drugs in Dermatology” Ruxolitinib cream may help treat severe hair loss in children.
1 citations
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January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
7 citations
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May 1985 in “Archives of dermatology” Vitamin D is important for more than just bone health.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
17 citations
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April 1997 in “American Journal of Dermatopathology” PC-associated alopecia has unique microscopic features.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.