11 citations
,
March 2013 in “Journal of Ophthalmic Inflammation and Infection” This report describes two cases of VKH disease and SO where severe alopecia, likely due to incomplete treatment, improved following systemic steroid therapy.
29 citations
,
November 2014 in “Experimental Dermatology” This study found that α-MSH administration before skin wounding in adult mice reduced inflammation and scar area, suggesting a potential pathway to more regenerative healing.
3 citations
,
October 2010 in “Dermatologic Surgery” The new surgical technique for vitiligo is effective, safe, and cost-efficient.
10 citations
,
September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
133 citations
,
May 2016 in “Cell Host & Microbe” In this study, human dermal fibroblasts were identified as natural host cells that support productive Merkel cell polyomavirus infection, and the MEK antagonist trametinib was introduced as an effective inhibitor to control the virus.
107 citations
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March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
1 citations
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May 2021 in “BMC Proceedings” This study found that frequent attenders at Cork University Hospital's emergency department accounted for a disproportionate amount of visits and were more likely to require admission for further care.
May 2024 in “Endocrine practice” In this case report, researchers identified Vitamin A toxicity as the cause of refractory hypercalcemia in a nonverbal patient, emphasizing the difficulty of diagnosing this rare condition due to its nonspecific symptoms.
62 citations
,
December 1966 in “Endocrinology” This study observed that injecting mice with α-MSH resulted in black hair regrowth in shaved and plucked areas, suggesting a potential link to the agent darkening hair in animals with a specific pituitary tumor.
17 citations
,
October 2001 in “British Journal of Ophthalmology” This report highlights a case where intralesional cidofovir successfully treated squamous cell carcinoma without systemic toxicity, suggesting it may be a viable alternative to surgical excision.
September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” This review discusses the clinical features of hypopigmented mycosis fungoides in primary cutaneous T cell lymphoma and reports no new clinical results.
2 citations
,
October 2019 in “Dermatologic Therapy” This study suggests using a handheld dermatoscope may allow for simple and efficient differentiation of eruptive vellus hair cysts by detecting vellus hair shafts, as demonstrated in a familial case involving five women.
14 citations
,
February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that the development of Merkel cell carcinoma from hair follicles in mice can be driven by in vivo reprogramming with ATOH1 and relies on p53 loss for progression.
166 citations
,
February 2005 in “Behavioural brain research” This study found that VDR knockout mice exhibited muscle and motor impairments affecting locomotor behavior, while cognitive functions such as exploration, working memory, and anxiety appeared unaffected.
June 2025 in “British Journal of Dermatology” In this report, two cases of melanocytic matricoma, a rare benign hair follicle lesion that mimics melanoma and basal cell carcinoma, were described and successfully treated with complete surgical excision. Histological analysis was crucial for differentiation from similar malignant lesions.
20 citations
,
February 2003 in “Facial Plastic Surgery” This article reviews the classification and treatments of vascular anomalies, such as hemangiomas and vascular malformations, and reports no new clinical results; it emphasizes the importance of managing patient expectations due to treatment limitations.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
March 2014 in “Journal of The American Academy of Dermatology” Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
May 2024 in “Rossijskaâ oftalʹmologiâ onlajn” In this case report, a 17-year-old Korean female with Vogt–Koyanagi–Harada syndrome showed positive improvement in her symptoms following systemic glucocorticosteroid pulse therapy, highlighting the rarity and importance of early disease detection.
1 citations
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September 2025 in “Viruses” This study of HCPS survivors in Chile found that 61.9% reported incomplete recovery at 3-6 months post-symptom onset, with ECMO users experiencing more motor dysfunction and palpitations, highlighting the need for multidisciplinary care to address persistent symptoms.
May 2020 in “International journal of dermatology and venereology” This study introduces the term "hair matrix cyst" for a cyst with both pilomatricoma and epidermal cyst characteristics, highlighting its potential for misdiagnosis among similar skin conditions.
March 2025 in “Laboratory Investigation” This study examined the clinicopathologic features of mesothelioma of the tunica vaginalis testis in 14 patients, finding that the disease mostly presented as epithelioid type, with a propensity for high-grade tumors, and BAP1 and MTAP loss was uncommon.
January 2023 in “Integrative Journal of Medical Sciences” This report presents a case of a child with hypothyroidism and poorly controlled type 1 diabetes developing both Mauriac syndrome and Van Wyk–Grumbach syndrome, two rare complications.
2 citations
,
January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.
3 citations
,
May 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This report highlights the diagnostic challenge of distinguishing autoimmune hepatitis from visceral leishmaniasis in children, revealing the importance of excluding infectious causes closely mimicking autoimmune features before initiating immunosuppressive therapy.
14 citations
,
June 1989 in “Journal of dermatology” This report describes the first documented occurrence of Vohwinkel's disease combined with congenital alopecia universalis in siblings from the same family, both unresponsive to prior treatments.
19 citations
,
February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
8 citations
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July 1986 in “International Journal of Dermatology” This article discusses eruptive vellus hair cysts, detailing their appearance, distribution, histology, and potential spontaneous resolution, but reports no new clinical findings on treatment.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” This case report describes an 18-year-old male with a rare acquired smooth muscle hamartoma on his face, characterized by hyperpigmented plaques and increased hair growth, suggesting a histological overlap with folliculosebaceous cystic hamartoma.