29 citations
,
January 2003 in “KARGER eBooks” In this study, researchers concluded that hereditary 1,25-dihydroxyvitamin D-resistant rickets, characterized by specific mutations in the vitamin D receptor gene, may resolve metabolic abnormalities with age, though associated alopecia remains.
March 2024 in “International journal of molecular sciences” In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.
1 citations
,
December 2020 in “Case reports in dermatological medicine” This case report discusses a 67-year-old male with pre-existing pemphigus vulgaris who showed nearly 90% resolution of his skin lesions after two weeks of acyclovir treatment, accompanied by continued use of systemic steroids.
3 citations
,
February 2016 in “Pediatric dermatology” This report describes two cases of Rapp–Hodgkin ectodermal dysplasia where refractory scalp erosions improved significantly with potent topical steroids; it also suggests a potential link between these scalp conditions and erosive pustular dermatosis of the scalp in elderly patients.
April 2015 in “Journal of the American Academy of Dermatology” This case study suggests that the most likely diagnosis for the patient with a pink, scaling rash is secondary syphilis.
August 2023 in “Rheumatology” In this case report, researchers describe a 17-year-old African male with an overlapping condition of juvenile dermatomyositis and systemic scleroderma, highlighting the importance of thorough history-taking and physical examination for accurate diagnosis and suggesting early referral to a pediatric rheumatologist to prevent severe outcomes.
4 citations
,
August 2023 in “Frontiers in Pediatrics” This study observed that children with multisystem inflammatory syndrome associated with COVID-19 exhibited physical intolerance and fatigue shortly after the acute phase, but significant improvements in exercise capacity, laboratory markers, and cardiac health were reported by six months post-discharge.
6 citations
,
July 1990 in “The Journal of Pediatrics” A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
June 2015 in “Annals of the Rheumatic Diseases” This clinical case report describes a 44-year-old male whose initial diagnosis of rheumatoid arthritis progressed over a decade to include systemic lupus erythematosus and Sjögren's Syndrome, highlighting the complexity of managing multiple autoimmune syndromes.
February 2026 in “American Journal of Case Reports” This case report describes a 26-year-old woman with an uncommon presentation of varicella zoster virus interstitial keratitis misdiagnosed as corneal intraepithelial neoplasia; the correct identification using diagnostic tools such as AS-OCT prevented unnecessary surgical interventions and allowed for effective antiviral treatment.
October 2023 in “CHEST Journal” This case report illustrates that diffuse alveolar hemorrhage can be a serious initial manifestation of systemic lupus erythematosus, characterized by progressive dyspnea, hemoglobin decrease, and respiratory symptoms.
13 citations
,
November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
3 citations
,
May 2022 in “Pediatric Critical Care Medicine” This case report describes a 19-year-old patient with undiagnosed severe portopulmonary hypertension who experienced acute right ventricular failure and cardiac arrest following liver transplantation, subsequently managed with ECMO and a paracorporeal lung-assist device.
9 citations
,
March 2012 in “Experimental dermatology” This meeting report discusses the first symposium on natural gene therapy for skin, preceding the 41st annual meeting of the European Society for Dermatological Research, and reports no new experimental findings.
July 2020 in “Indian journal of sexually transmitted diseases and AIDS” This article highlights the importance of an algorithmic approach to manage multiple opportunistic infections in HIV-infected patients due to the risk of drug interactions and complications, but reports no new clinical results.
6 citations
,
August 2024 in “Aesthetic Plastic Surgery” This study analyzed RSN complications in 18 hair transplantation patients and found that smoking, diabetes, and hypertension may increase risk, highlighting the need for prevention strategies and timely treatment.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
1 citations
,
September 2024 in “Porto Biomedical Journal” This case report illustrates the diagnostic challenges and importance of early detection in primary vitreoretinal lymphoma, highlighting a successful treatment outcome with systemic chemotherapy in preventing CNS progression.
May 2022 in “Annals of the Rheumatic Diseases” This case report describes two cases of systemic lupus erythematosus (SLE) onset occurring within two months after COVID-19 vaccination, but it remains unclear if the vaccination contributed to these cases.
June 2025 in “Revista Ciencia Multidisciplinaria CUNORI” In this study, 86% of pregnant women with SARS-CoV-2 received timely thromboprophylaxis based on their sepsis-induced coagulopathy scores, with most scoring between one and two.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
10 citations
,
September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
June 2023 in “Small animal advances” This case report describes successful treatment of mange in a rabbit using topical selamectin over two weeks.
9 citations
,
June 2020 in “Korean Journal of Parasitology” This case report describes the first documented instance of sarcoptic mange in a pet rabbit in Korea, with successful treatment using weekly ivermectin injections leading to full recovery.
31 citations
,
March 1963 in “American journal of diseases of children” This report details a case of acrodermatitis enteropathica in a 4-month-old infant, noting the disorder's rarity and familial transmission, and includes a literature review with no new clinical results.
62 citations
,
January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
1 citations
,
September 2022 in “European Journal of Dermatology” This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.
6 citations
,
February 1985 in “Archives of Dermatology” This report describes a case where a 23-year-old woman with juvenile rheumatoid arthritis developed generalized ichthyosiform eruption due to sarcoidosis after long-term use of systemic corticosteroids.
October 2021 in “Utah State Research and Scholarship (Utah State University)” This study found that folic acid deficiency in infant mice moderately worsened rotaviral disease, while zinc deficiency did not significantly affect rotaviral disease progression.