35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
Donor lymphocyte infusions effectively treated leukemia relapse but caused vitiligo and alopecia areata.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
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.
2 citations
,
February 2000 in “International Journal of Dermatology” Hepatitis C and alcohol abuse may lead to porphyria cutanea tarda.
105 citations
,
March 2014 in “British journal of dermatology/British journal of dermatology, Supplement” Alopecia areata patients often have low vitamin D levels, suggesting they might benefit from vitamin D supplements.
3 citations
,
September 2022 in “European Journal of Dermatology” 5 citations
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October 2012 in “Veterinary Pathology” A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
35 citations
,
January 2002 in “Dermatology” A woman's hair loss during treatment with specific hepatitis C drugs grew back after stopping the medication.
8 citations
,
April 2018 in “Journal of the European Academy of Dermatology and Venereology” Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
3 citations
,
April 2015 in “Cleveland Clinic Journal of Medicine” The woman has scurvy and needs more vitamin C.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
12 citations
,
July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
September 2011 in “Chinese Journal of Dermatology” A man's skin condition was misdiagnosed and later identified as a rare type of skin cancer, which did not improve with treatment.
3 citations
,
May 2017 in “BMJ Case Reports” A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
14 citations
,
February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
January 2018 in “Journal of Crohn s and Colitis” High-dose intravenous iron therapy doesn't interfere with treatment improvements in IBD patients with iron deficiency anemia.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
October 2021 in “Utah State Research and Scholarship (Utah State University)” Folic acid deficiency worsens rotaviral infection, while zinc deficiency affects physical health but not the infection.
7 citations
,
December 2017 in “Basrah Journal of veterinary Research” Zinc and copper deficiency harms sheep health and normal body functions.
9 citations
,
January 2015 in “Veterinary record case reports” A dog in Germany was successfully treated for a rare bacterial infection without spreading it to humans.
36 citations
,
November 2000 in “Journal of the American Academy of Dermatology” A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
Secukinumab treatment may cause HBV reactivation and hair discoloration.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
August 2024 in “Turkish Journal of Pediatric Disease” Zinc spray and cream effectively treated a baby's zinc deficiency disorder.
April 2023 in “Journal of Investigative Dermatology” An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.