December 2023 in “Revista de la Facultad de Ciencias Médicas (Quito)” This case report describes a 15-year-old female whose initial systemic lupus erythematosus manifestations were fever and rash appearing separately, illustrating diagnostic challenges between SLE and infection.
October 2018 in “Emergency medicine news” This case report describes a 65-year-old man diagnosed with atraumatic splenic rupture, which is rare and can occur without trauma, following sudden-onset left-sided abdominal pain.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
This study suggests that finasteride might reduce SARS-COV-2 infectivity by inducing epigenetic changes in the TMPRss2 protein, which is crucial for viral activation and multiplication.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
13 citations
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January 2021 in “The American journal of gastroenterology” In this study, sirolimus treatment reduced the size of venous malformations and improved anemia, transfusion dependence, and quality of life in patients with blue rubber bleb nevus syndrome, though mild adverse effects were reported.
4 citations
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August 2002 in “British Journal of Ophthalmology” This study suggests that intralesional cidofovir might be a treatment option for SCC, as it showed a successful outcome without systemic toxicity in the reported case.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
March 2025 in “Nature Communications” This study used human stem cell-derived skin organoids to model EV-A71 infection, revealing that various skin cell types are susceptible to the virus and identifying a potential drug target and replication inhibitor, suggesting its utility for studying skin infectious diseases and drug screening.
October 2014 in “Archives of Disease in Childhood” This case study reported that growth hormone therapy dramatically improved rickets symptoms and growth in three children with vitamin-D dependent rickets type 2 who had not responded to standard treatments.
September 2023 in “Journal of the American Academy of Dermatology” Risankizumab effectively treats and maintains skin clearance in moderate-to-severe psoriasis.
40 citations
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August 2010 in “Archives of dermatology” This case report describes the youngest known patient with viral-associated trichodysplasia of immunosuppression, where systemic valganciclovir therapy improved facial papule eruptions following cardiac transplantation.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.
November 2025 in “International Journal of Bio-resource and Stress Management” This review discusses MRSA in dogs and its public health impact, highlighting interspecies transmission and the need for improved infection control and biosecurity measures, but reports no new experimental results.
2 citations
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June 2025 in “Medicina” This retrospective study in pediatric patients with Sjögren's syndrome found consistent indications of tear film instability and identified systemic features like arthralgia, Raynaud's phenomenon, and frequent autoantibody positivity, underscoring the value of integrating clinical and ophthalmological assessments for early diagnosis.
3 citations
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January 2022 in “Journal of Infection” This article discusses intra-host single-nucleotide variants in SARS-CoV-2, highlighting their potential to inform on virus strain diversity, immune escape, and drug design, but it reports no new clinical results.
March 2024 in “EMBO molecular medicine” This study found that the antiviral drug daclatasvir significantly improved fibrosis and quality of life in a mouse model of recessive dystrophic epidermolysis bullosa, suggesting potential for treating this and other fibrotic diseases.
12 citations
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January 2022 in “The Egyptian Journal of Internal Medicine” This review summarizes current knowledge of SARS-CoV-2, including its biology, epidemiology, risk factors, and the need for updated vaccines and drugs, but presents no new clinical findings.
November 2025 in “SKIN The Journal of Cutaneous Medicine” This study evaluated the long-term safety of ritlecitinib in adolescents with alopecia areata and found it to be well-tolerated without new safety concerns over approximately five years, with common adverse events including positive SARS-CoV-2 tests, acne, headache, and nasopharyngitis.
2 citations
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September 2022 in “Annals of Oncology” This study observed that MIRV improved gastrointestinal symptoms and other quality of life measures in patients with platinum-resistant ovarian cancer compared to chemotherapy.
March 2026 in “Journal of Sustainable Veterinary and Allied Sciences” In this case report, a 5-year-old female German shepherd diagnosed with canine babesiosis and ehrlichiosis fully recovered after receiving parenteral treatment for these infections and topical therapy for dermatitis at the University of Ilorin's Veterinary Teaching Hospital.
October 2010 in “EUR Research Repository (Erasmus University Rotterdam)” This case report describes the successful treatment of scedosporiosis-induced cellulitis with voriconazole and intermittent pneumatic compression in a 72-year-old Portuguese woman.
12 citations
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September 2017 in “JDR Clinical & Translational Research” In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.
18 citations
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November 2018 in “Annals of the Academy of Medicine Singapore” Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
2 citations
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October 2025 in “Antimicrobial Agents and Chemotherapy” This study found that cepharanthine may be a promising treatment for enterovirus infections, as it offered full protection to mice against lethal EV71 challenges and reduced viral titers and pathology.
7 citations
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January 2021 in “Biology” This study documented a variety of skin lesions in COVID-19 patients, indicating that skin rashes might be an early or sole symptom of the disease.
January 2023 in “International Journal of Contemporary Pediatrics” This case study describes a 5-year-old boy with vitamin D dependent rickets type 2, motor delays, and alopecia totalis who showed improved biochemical parameters with calcium and calcitriol treatment.
October 2025 in “Indian Journal of Paediatric Dermatology” This report describes a case of halo scalp ring, a pattern of transient alopecia in infants, which resolved without treatment over 17 months.