January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
26 citations
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August 2014 in “Veterinary Dermatology” Sphynx cats have abnormal hair follicles and keratinization affecting their skin.
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
1 citations
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July 2024 in “International Journal of Biological Research” Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
March 2026 in “Indian Dermatology Online Journal” Dermoscopy can help diagnose secondary syphilis by distinguishing it from other skin issues.
20 citations
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June 2003 in “Neurology” Tacrolimus and corticosteroids can improve symptoms of Satoyoshi syndrome.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
73 citations
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July 1977 in “Archives of Dermatology” Applying safflower oil to the skin reversed fatty acid deficiency symptoms in 21 days.
December 2020 in “Journal of clinical and investigative dermatology” A man with syphilitic alopecia and neurosyphilis was successfully treated with penicillin, leading to symptom improvement and resolution of hair loss.
October 2022 in “International journal of research in dermatology” A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
22 citations
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July 2006 in “Annals of The Royal College of Surgeons of England” Hair or fiber wrapped tightly around a toe can lead to serious injury if not treated quickly.
13 citations
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January 2019 in “Skin appendage disorders” FAPD is a possible diagnosis for hair loss in patients of color and requires multiple evaluations for accurate diagnosis.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
1 citations
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June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
1 citations
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February 1994 in “Drug Investigation” Sulfasalazine might cause hair loss, especially in women, and stopping it can reverse the hair loss.
32 citations
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October 2005 in “PubMed” Scurvy, caused by lack of vitamin C, can be mistaken for other conditions but improves with vitamin C supplements.
November 2024 in “Rheumatology Advances in Practice” Timely diagnosis of SLE is crucial due to symptom overlap with fibromyalgia.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
6 citations
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January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
April 2016 in “Journal of The American Academy of Dermatology” People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.