The Journal of dermatology最新文献

Mammalian skin appendages, such as hair follicles and sweat glands, are essential for both esthetic and functional purposes. Conditions such as burns and ulcers can lead to dysfunction or loss of skin appendages and result in hair loss and dry skin, posing challenges in their regeneration. Existing animal models are insufficient for studying acquired dysfunction of skin appendages without underlying genetic causes. This study aimed to develop more clinically relevant mouse models by evaluating two approaches: keratinocyte transplantation and grafting of skin at varying thicknesses. green fluorescent protein (GFP)-expressing keratinocytes were transplanted into ulcers on nude mice, leading to re-epithelialization with minimal skin appendages at 4 weeks after transplantation. However, the re-epithelialized area was largely derived from recipient cells, with the grafted cells contributing to only 1.31% of the area. In the skin-grafting model, donor skin from GFP transgenic mice was grafted onto nude mice at three thicknesses: full thickness, 10/1000 inch, and 5/1000 inch. The grafted area of the 5/1000-inch grafts remained stable at 89.5% of its original size 5 weeks after transplantation, ensuring a sufficiently large skin area. The 5/1000-inch grafts resulted in a significant reduction in skin appendages, with a mean of only 3.73 hair follicles per 5 mm, compared with 69.7 in the control group. The 5/1000-inch skin grafting in orthotopic autologous transplantation also showed the achievement of skin surfaces with a minimal number of skin appendages. Therefore, a mouse model with skin grafting demonstrated stability in producing large areas of skin with minimal appendages. In conclusion, these two models with acquired skin appendage dysfunction and no underlying genetic causes provide valuable tools for researching skin appendage regeneration, offering insights into potential therapeutic strategies for conditions involving skin appendage loss.

Comprehensive studies of the genetic profiles of cutaneous squamous cell carcinoma (cSCC) in Japanese patients have been lacking, although an understanding of these profiles is crucial for improving treatment outcomes. Since 2019, comprehensive genomic profiling (CGP) has been covered by Japan's health insurance, and the resulting data have been compiled into a comprehensive database by the country's Center for Cancer Genomics and Advanced Therapeutics (C-CAT). In this retrospective study, we used CGP data from the C-CAT database to analyze genomic characteristics of cSCC in Japanese patients. The patients' clinical and genomic data, including the chemotherapy regimens, tumor mutational burden (TMB), and survival status, were obtained. We analyzed the cases of 152 patients, with only those evaluated by the FoundationOne® CDx included for accuracy. Among the 152 patients, the most common gene oncogenic alterations were observed in TP53 (67%), CDKN2A (54%), TERT (49%), CDKN2B (33%), and NOTCH1 (18%). TMB-high (≥10 mut/Mb) was observed in 27% (n = 41) of the patients, with a median age of 75 years for this group. TMB-low (<10 mut/Mb) was observed in 73% (n = 111) of the patients; their median age was 67 years.

Bullous pemphigoid (BP) is the most prevalent autoimmune blistering disorder, triggered by autoantibodies targeting hemidesmosome components. It is associated with substantial morbidity and increased mortality. No studies comprehensively evaluate all comorbidities before and after diagnosing patients with BP. We aimed to investigate all BP-associated comorbid diseases and their patterns of associations. This nationwide population-based study included 5066 patients with BP and 10 132 controls between 2011 and 2021. We performed an automated mass screening of 546 diagnostic codes to identify BP-associated comorbidities 5 years before and after BP diagnosis, and analyzed associations patterns of comorbidities. Patients with BP had increased odds of having pressure ulcers, intracerebral hemorrhage, scabies, neuropsychiatric disorders, psoriasis, drug eruption, and acute renal failure before BP diagnosis. After BP diagnosis, they had increased odds pneumonia, sepsis, chronic renal disease, and cardiac arrest. Strong interrelationships were observed between five neuropsychiatric conditions before BP diagnosis and a strong bidirectional association between Alzheimer's dementia and pneumonia after BP diagnosis. This large case-control study of patients with BP thoroughly identified all relevant comorbidities before and after BP diagnosis, highlighting their clinical significance as predisposing and prognostic factors in patients with BP.

Hereditary palmoplantar keratoderma (hPPK) comprises a clinical and heterogeneous group of skin disorders characterized by hyperkeratosis of the palms and soles. Variants of SERPINA12 have been implicated in autosomal recessive diffuse hPPK, which shares similarities with Nagashima-type PPK due to biallelic variants in SERPINB7. To date, seven SERPINA12 variants have been found in 11 patients with biallelic SERPINA12 variants worldwide. Herein, we described six new cases of hPPK caused by biallelic SERPINA12 variants from southwestern China. Our study showed commonly extensive distribution of skin lesions and various comorbidities in patients with SERPINA12-related hPPK. Moreover, we revealed the variant c.635-7A>G was a founder variant in patients with SERPINA12-related hPPK in southwestern China. Our work is helpful to improve the knowledge of clinical and genetic characteristics of SERPINA12-related hPPK.