UNASSIGNED: A 55-year-old male patient developed a mass in the left inguinal area with left lower limb swelling and first visited a local hospital 3 months earlier because of unrelieved pain. An MRI scan suggested left suprapubic branch and left acetabular bone destruction, abnormal soft tissue signals within the iliopsoas muscle of the anterior edge of the left iliac bone, and enlarged lymph nodes in the left iliac fossa and left inguinal region. The patient subsequently underwent left pelvic lesion open biopsy and inguinal lymph node resection biopsy. According to pathological reports, the left inguinal mass was considered to be a malignant tumor of cutaneous accessory origin (pilomatrix carcinoma) with extensive vitreous changes. The suprapupubis branch mass was considered to be a bone metastatic pilomatrix carcinoma. Immunohistochemistry (IHC) revealed a PDL1 combined positive score (CPS) of 8. DNA next-generation sequencing (NGS) showed CDKN2A L65Rfs*53 mutation. The patient received three cycles of gemcitabine and nedaplatin. However, the lesion progressed.
UNASSIGNED: Chemotherapy is not effective for treating pilomatrix carcinoma. PDL1 antibodies and CDK4/6 inhibitors might be treatment options for pilomatrix carcinoma.

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The contribution of gut microbiota to the pathogenesis of polycystic ovary syndrome (PCOS) is controversial. The causal relationship to this question is worth an in-depth comprehensive of known single nucleotide polymorphisms associated with gut microbiota.
We conducted bidirectional Mendelian randomization (MR) utilizing instrumental variables associated with gut microbiota (N = 18,340) from MiBioGen GWAS to assess their impact on PCOS risk in the FinnGen GWAS (27,943 PCOS cases and 162,936 controls). Two-sample MR using inverse variance weighting (IVW) was undertaken, followed by the weighted median, weighted mode, and MR-Egger regression. In a subsample, we replicated our findings using the meta-analysis PCOS consortium (10,074 cases and 103,164 controls) from European ancestry.
IVWMR results suggested that six gut microbiota were causally associated with PCOS features. After adjusting BMI, SHBG, fasting insulin, testosterone, and alcohol intake frequency, the effect sizes were significantly reduced. Reverse MR analysis revealed that the effects of PCOS features on 13 gut microbiota no longer remained significant after sensitivity analysis and Bonferroni corrections. MR replication analysis was consistent and the results suggest that gut microbiota was likely not an independent cause of PCOS.
Our findings did not support the causal relationships between the gut microbiota and PCOS features at the genetic level. More comprehensive genome-wide association studies of the gut microbiota and PCOS are warranted to confirm their genetic relationship.
This study contains 3533 words, 0 tables, and six figures in the text as well as night supplementary files and 0 supplementary figures in the Supplementary material.

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BACKGROUND: Alopecia areata (AA), trichotillomania (TM), nevus sebaceous (NS), and linear scleroderma en coup de sabre (LSCS) can all present with a patch of linear alopecia, making diagnosis challenging. The purpose of this study was to combine reflectance confocal microscopy (RCM) and dermoscopy in the diagnosis of these lesions in children.
METHODS: A total of 36 patients with linear alopecia were enrolled, of whom 14 had AA, seven had TM, nine had NS, and six had LSCS. We evaluated the characteristics and distinguishing features of the four conditions using RCM and dermoscopy.
RESULTS: The key to differential diagnosis was the dermal Hair follicle density in the dermis was decreased in AA, and the size and density of the follicular openings were normal in TM. In NS, the major features were petal-like and frogspawn-like structures. In LSCS, dermal papillary rings, sebaceous glands, and follicles were partially or completely missing, and abundant fibrous material was distributed in the dermis. Dermoscopy revealed alopecia, and all four conditions resulted in decreased hair density. AA patients exhibited yellow dots, black dots, and exclamation mark hairs. TM patients presented with irregularly broken hairs and blood spots. Both NS and LSCS patients exhibited an absence of follicular openings; NS patients demonstrated whitish and yellowish round structures, while an atrophic area with white patches, linear vessels, and no yellow or black dots was observed in LSCS patients CONCLUSION: RCM combined with dermoscopy can provide additional information on disease states and differentiate between AA, TM, NS, and LSCS.

BACKGROUND: It is unknown whether high-frequency ultrasound (HFUS) can evaluate invisible subcutaneous lesions. We aimed to investigate the diagnostic value of HFUS in invisible subcutaneous lesions.
METHODS: Patients with invisible subcutaneous lesions were prospectively recruited from two centres. Before undergoing biopsy or surgery, each lesion was independently evaluated by two clinicians. One provides a clinical diagnosis by only clinical examination and the other provides an integrated diagnosis by combining clinical examination and HFUS information. Diagnoses were classified as correct, wrong, and indeterminate. A total of 391 lesions from 355 patients were enrolled, including 225 epidermoid cysts, 77 lipomas, 25 pilomatrixomas, 21 haemangiomas, 19 dermatofibromas, 11 dermatofibrosarcoma protuberans (DFSP), 7 neurofibromas, and 6 leiomyomas. Using pathological results as the gold standard, diagnostic performance was compared.
RESULTS: The number of correct diagnoses increased from 185 (47.3%) by clinical examination alone to 316 (80.8%) after the addition of HFUS (P < 0.05). Meanwhile, the indeterminate diagnosis rate decreased from 143 (36.6%) to 10 (2.6%). Using HFUS, the accuracy improved significantly for epidermoid cysts (59.6% vs. 86.7%), lipomas (50.6% vs. 94.8%), pilomatrixomas (0% vs. 48.0%), haemangiomas (23.8% vs. 57.1%), and DFSPs (0% vs. 81.8%) (all p < 0.05). However, HFUS did not significantly improve the diagnostic accuracy of dermatofibromas (15.8% vs. 21.1%, p > 0.999), neurofibromas (42.9% vs. 71.4%, p = 0.625), or leiomyomas (16.7% vs. 100%, p = 0.063).
CONCLUSIONS: Combining HFUS and clinical examination can generally improve the diagnostic accuracy and decrease the indeterminacy of invisible subcutaneous lesions, especially epidermoid cysts, lipomas, pilomatrixomas, haemangiomas, and DFSPs. However, for some rare lesions, HFUS cannot provide useful information.

BACKGROUND: Hair diseases may present with hair loss, hirsutism, hair melanin abnormalities and other manifestations. Hair follicles are known as mini-organs that undergo periodic remodeling, and their constant regeneration in vivo reflects interesting anti-aging functions. Telomerase prevents cellular senescence by maintaining telomere length, but its excessive proliferation in cancer cells may also induce cancer. However, the effects of telomerase in hair growth have rarely been reported.
METHODS: In this study, we reviewed the role of telomerase in hair growth and the effects of hair disorders through literature search and analysis.
RESULTS: There is growing evidence that telomerase plays an important role in maintaining hair follicle function and proliferation. Changes in telomerase levels in hair follicles have also been found in a variety of hair disorders.
CONCLUSIONS: Telomerase plays a positive role in hair growth and is expected to become a new target for the treatment of alopecia or other hair diseases in the future.

BACKGROUND: Pilomatricoma is a common but easily misdiagnosed tumor in children.
OBJECTIVE: To differentiate pilomatricoma from other common subcutaneous nodules in children.
METHODS: Misdiagnosed subcutaneous nodules in four children were recorded.
RESULTS: A red mass on a 7-year-old boy\'s head which had been misdiagnosed pyogenic granuloma was proved to be pilomatricoma. A red mass on an 8-month-old boy\'s face which had been misdiagnosed infantile hemangioma also turned to be pilomotricoma. A red mass on a 21-month-old girl\'s breast, which had been misdiagnosed pilomatricoma, was proved to be infantile myofibroma. A subcutaneous nodule under a 13-month-old girl\'s armpit, which had been misdiagnosed pilomatricoma, turned to be BCG-associated lymphadenitis.
CONCLUSIONS: When a child with a subcutaneous nodule attends, pilomatricoma, vascular tumors, fibrous tumors, and BCG-associated lymphadenitis should be considered.

Hypotrichosis simplex (HS) and woolly hair (WH) are rare and monogenic disorders of hair loss. HS, characterized by a diffuse loss of hair, usually begins in early childhood and progresses into adulthood. WH displays strong coiled hair involving a localized area of the scalp or covering the entire side. Mutations in the keratin K71(KRT71) gene have been reported to underlie HS and WH. Here, we report the generation of a mouse model of HS and WH by the co-injection of Cas9 mRNA and sgRNA, targeting exon6 into mouse zygotes. The Krt71-knockout (KO) mice displayed the typical phenotypes, including Krt71 protein expression deletion and curly hair in their full body. Moreover, we found that mice in 3-5 weeks showed a new phenomenon of the complete shedding of hair, which was similar to nude mice. However, we discovered that the mice exhibited no immune deficiency, which was a typical feature of nude mice. To our knowledge, this novel mouse model generated by the CRISPR/Cas9 system mimicked woolly hair and could be valuable for hair disorder studies.

BACKGROUND: Trichilemmal carcinoma (TLC) is a rare malignant cutaneous adnexal tumor usually accept surgery. This report describes an elderly patient with recurrence TLC of the periorbital region after surgery who was subsequently treated with IMRT radiotherapy. After 2-years follow-up visit, there was no progress or metastasis.
BACKGROUND: TLC is a rare malignant cutaneous adnexal tumor. It usually occurs on sun-exposed areas in elderly people but rarely occurs in the periorbital region. Most cases accept surgery or micrographic Mohs surgery. Recurrence or metastasis of this neoplasm was seldom reported in the medical literature after enough tumor-free margin surgery. And radiotherapy was seldom reported in the treatment for patients of TLC.
METHODS: Here we report an elderly patient with recurrence TLC of the periorbital region after surgery who was subsequently treated with radiotherapy with a total dose of 66 Gy. Two years later, the patient was admitted head, neck, chest, abdomen CT scan, and no progress or metastasis was detected after 2-years follow-up.
METHODS: Trichilemmal carcinoma of the periorbital region.
METHODS: We describe the clinical characteristics, pathological features, and choice of examination methods of a patient with TLC in the periorbital region. And we use the radical radiotherapy to treat this case.
RESULTS: There are no progress or metastasis after 2-years follow-up.
CONCLUSIONS: Radiotherapy is a good option for patients with TLC if the patient refuses surgery or fails to achieve a satisfactory tumor-free margin or relapses after surgery.