March 2026 in “Biomedicines” This study found that the Antera 3D® system provided an objective and sensitive method for assessing pediatric pathological scars, capturing significant changes in pigmentation, vascularity, and volume, compared to the traditional Vancouver Scar Scale and dermoscopy, which showed varied sensitivities across different scar parameters.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
9 citations
,
March 1989 in “The BMJ” Adding diltiazem to a beta blocker can cause dangerously slow heart rates.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
This study protocol aims to explore the prevalence of polycystic ovary syndrome among female pediatric patients with spina bifida, focusing on metabolic and phenotypic differences, but reports no new results yet.
October 2023 in “Journal of the Endocrine Society” This case report highlights that Sheehan's syndrome can still occur in developed countries due to factors like migration and delayed diagnosis, with diabetes insipidus sometimes masked by adrenal insufficiency.
17 citations
,
January 2011 in “The Korean Journal of Hepatology” This case report details an occurrence of Vogt-Koyanagi-Harada disease during pegylated interferon-α2b and ribavirin therapy for chronic hepatitis C.
January 2023 in “Burns & Trauma” This study introduced a volar skin excisional wound model that closely mirrors human wound healing and supports evaluation of skin regeneration with multiple appendages and innervation.
August 2024 in “Dermatology and Therapy” This report describes a case where a 44-year-old male treated with vorasidenib for diffuse low-grade gliomas developed unexpected hair growth, including in areas of severe hair loss, after one month, highlighting a previously undocumented side effect.
33 citations
,
August 2013 in “British Journal of Dermatology” Lack of small, fine hair on the front hairline is a key sign of frontal fibrosing alopecia.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
9 citations
,
July 2013 in “Clinical Neuroradiology” A man developed a rare blood vessel connection on his scalp after hair transplants, which was successfully treated with surgery.
16 citations
,
March 2015 in “Wiener Klinische Wochenschrift” Vitamin D deficiency is common in women with PCOS and linked to some metabolic problems, but not the main cause of their metabolic issues.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report reveals a diagnosis of scurvy in a 19-year-old woman, emphasizing the importance of considering vitamin C deficiency in patients with dietary restrictions presenting with specific skin and gum symptoms.
6 citations
,
October 2016 in “Pediatric Dermatology” This case report describes a unique instance of a 6-year-old girl developing angioedema after treatment with squaric acid dibutylester for alopecia areata.
May 2024 in “Clinical and experimental optometry” This case report describes a rare side effect of finasteride in a young male being treated for androgenic alopecia.
May 2025 in “The Journal of Rheumatology” This case report highlights a rare instance of diffuse alveolar hemorrhage in a patient with catastrophic antiphospholipid syndrome, emphasizing the importance of early recognition and multidisciplinary management.
December 2009 in “Pediatrics in review” This case study describes a 17-year-old girl initially thought to be experiencing a Crohn disease exacerbation, but ultimately found to have a trichobezoar causing small bowel obstruction.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
December 2025 in “Medical dosimetry”
4 citations
,
February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” In this study, only Vdr-knockout rats showed both abnormal skin formation and alopecia, which may provide insights into vitamin D receptor function and its role in the hair growth cycle.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, researchers developed ScalpViT, a novel deep learning model, to improve the automated diagnosis of visually similar scalp diseases, achieving 94.3% accuracy and outperforming existing models like ResNet-50 and EfficientNet-B3 when tested on a diverse dataset of 7,000 images.
1 citations
,
March 2023 in “Medicine” This case report details a patient with Satoyoshi syndrome presenting with uveitis and impending central retinal vein occlusion, a previously undocumented complication, suggesting uveitis as a potential complication of the syndrome.
10 citations
,
June 2019 in “Transplant infectious disease” This case study reported TSPyV DNA detection in blood and urine samples before trichodysplasia spinulosa skin lesions developed in a kidney transplant patient under immunosuppressive therapy.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
June 2024 in “The American journal of psychiatry” In this study by Sawada et al., the researchers developed a human striatal model using stem cells and postmortem samples, revealing accelerated neuronal maturation and specific gene expression changes linked to schizophrenia risk, which may inform future research on the disorder's developmental roots.
September 2020 in “Journal of Health, Medicine and Nursing” This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.
June 2025 in “Veterinární Medicína” In this veterinary study, uveodermatological syndrome in dogs was reported to cause skin depigmentation, alopecia, and eye issues such as granulomatous panuveitis, which leads to complications like cataracts and glaucoma; while immunosuppressive therapy often helps, recurrence and treatment side effects challenging therapeutic management.