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Archives of Craniofacial Surgery Apr 2024Primary cutaneous mucinous carcinoma (PCMC) is a rare malignancy of the sweat glands that most commonly affects the periorbital area. It is characterized by slow growth...
Primary cutaneous mucinous carcinoma (PCMC) is a rare malignancy of the sweat glands that most commonly affects the periorbital area. It is characterized by slow growth over a prolonged period, and its morphology can be easily confused with a benign tumor, such as an epidermal cyst. Consequently, many patients experience recurrence after undergoing multiple resections. However, there are few reports concerning the surgical management of PCMC. We present two cases of PCMC originating in the periorbital area. The first case involved a 76-year-old man with a mass measuring 3.0× 1.5 cm that had been increasing in size. The second case was a 61-year-old man with two masses, each measuring 1.0× 1.0 cm, that were also growing. Both patients underwent wide excision with a 5-mm safety margin, which was determined based on the widest view of the cross-section of the mass on the magnetic resonance imaging. Subsequently, based on the intraoperative frozen biopsy results, both patients underwent additional excision with a 5-mm safety margin in only one direction. This report shows that, when determining the surgical margin of PCMC in periorbital area, employing imaging modalities and intraoperative frozen biopsies can be helpful for narrowing the surgical margin.
PubMed: 38742336
DOI: 10.7181/acfs.2024.00031 -
Acta Dermato-venereologica May 2024There are no standard treatment guidelines for hidradenocarcinoma, and the immune microenvironment and genomic data are very limited. Thus, in this study the immune...
There are no standard treatment guidelines for hidradenocarcinoma, and the immune microenvironment and genomic data are very limited. Thus, in this study the immune microenvironment and genomic indicators in hidradenocarcinoma was investigated, and immunotherapy for hidradenocarcinoma was initially explored. Forty-seven hidradenocarcinoma patients were retrospectively collected. Immunohistochemical staining was performed to identify CD3/CD8+ T cells and programmed death ligand-1 expression. In total, 89.4% and 10.6% of samples had Immunoscores of 0-25% and 25-70%. Tumour proportion score distribution was as follows: tumour proportion score < 1% in 72.4%, 1-5% in 17.0%, and > 5% in 10.6%. Combined positive score distribution was as follows: combined positive score < 1 in 63.8%, 1-5 in 14.9%, and > 5 in 21.3%. Next-generation sequencing revealed that TP53 (33%), PI3KCA (22%), and ERBB3 (22%) were the most frequently mutated genes. The PI3K-Akt signalling pathway, growth, and MAPK signalling pathways were significantly enriched. Five patients had a low TMB (< 10 muts/Mb), and 9 patients had MSS. Three patients treated with immune combined with chemotherapy achieved significant tumour regression, and the progression-free survival was 28.8 months. In conclusion, the hidradenocarcinoma immune microenvironment tends to be noninflammatory. Evidence-based targets for targeted therapy are lacking. Immunotherapy combined with chemotherapy may be better for most advanced hidradenocarcinoma patients with a noninflammatory microenvironment.
Topics: Humans; Tumor Microenvironment; Retrospective Studies; Sweat Gland Neoplasms; Male; Female; Middle Aged; Adult; Aged; Biomarkers, Tumor; Mutation; Treatment Outcome; Lymphocytes, Tumor-Infiltrating; B7-H1 Antigen; Immunotherapy; Young Adult; Antineoplastic Agents, Immunological
PubMed: 38738772
DOI: 10.2340/actadv.v104.22146 -
International Journal of Molecular... Apr 2024In cholinergic urticaria (CholU), small, itchy wheals are induced by exercise or passive warming and reduced sweating has been reported. Despite the described reduced...
In cholinergic urticaria (CholU), small, itchy wheals are induced by exercise or passive warming and reduced sweating has been reported. Despite the described reduced muscarinic receptor expression, sweat duct obstruction, or sweat allergy, the underlying pathomechanisms are not well understood. To gain further insights, we collected skin biopsies before and after pulse-controlled ergometry and sweat after sauna provocation from CholU patients as well as healthy controls. CholU patients displayed partially severely reduced local sweating, yet total sweat volume was unaltered. However, sweat electrolyte composition was altered, with increased K concentration in CholU patients. Formalin-fixed, paraffin-embedded biopsies were stained to explore sweat leakage and tight junction protein expression. Dermcidin staining was not found outside the sweat glands. In the secretory coils of sweat glands, the distribution of claudin-3 and -10b as well as occludin was altered, but the zonula occludens-1 location was unchanged. In all, dermcidin and tight junction protein staining suggests an intact barrier with reduced sweat production capability in CholU patients. For future studies, an ex vivo skin model for quantification of sweat secretion was established, in which sweat secretion could be pharmacologically stimulated or blocked. This ex vivo model will be used to further investigate sweat gland function in CholU patients and decipher the underlying pathomechanism(s).
Topics: Humans; Sweat Glands; Female; Tight Junctions; Male; Sweat; Adult; Middle Aged; Urticaria; Sweating; Skin
PubMed: 38731882
DOI: 10.3390/ijms25094658 -
Journal of Clinical and Experimental... Apr 2024Microcystic adnexal carcinoma is a rare malignant tumour derived from sweat glands, locally aggressive, but with low rate of lymphatic or metastatic spread. Tends to...
BACKGROUND
Microcystic adnexal carcinoma is a rare malignant tumour derived from sweat glands, locally aggressive, but with low rate of lymphatic or metastatic spread. Tends to affect the deep dermis, without affection of epidermis. Surgery remains as the first line treatment.
CASE REPORT
We present a case of a 46-year-old woman with a slow growing lesion of the upper lip, with biopsy diagnosis of microcystic adnexal carcinoma. She underwent a resection and reconstruction with local advancement flaps. The final anatomopathological study showed an adnexal epithelial neoplasm with imprecise borders, poorly delimited, non-encapsulated, growing in plaque-like formation from the superficial dermis into the adipose tissue, perineural invasion, without epidermal infiltration.
DISCUSSION
It is an extremely rare malignant tumour, appearing as a solitary papule or plaque affecting the central face, that often affect middle-aged caucasic, female patients. Usual local aggressive nature, characterized by small nests and strands of cells in deep dermis and perineural-invasion images, absent in superficial tissue. An incisional biopsy is need to make a correct diagnosis. Due to its rarity there is no consensus on the best management and follow-up. The microcystic adnexal carcinoma should be taken into consideration in the differential diagnosis. Microcystic adnexal carcinoma, lip, histopathology.
PubMed: 38725813
DOI: 10.4317/jced.61440 -
Cureus Apr 2024Adnexal carcinomas are rare cutaneous malignancies arising from the eccrine and apocrine sweat glands, follicles and sebaceous glands. They occur mainly in elderly...
Adnexal carcinomas are rare cutaneous malignancies arising from the eccrine and apocrine sweat glands, follicles and sebaceous glands. They occur mainly in elderly people. We report the case of a patient treated for locally advanced apocrine adnexal carcinoma of the thigh, with a review of the literature. The patient was 69 years old, he complained of pruritus on the anterior region of the left thigh four months ago with the appearance of a homolateral inguinal mass without any other associated signs. A left inguinal adenectomy was performed. After almost 15 days, the left inguinal adenopathy reappeared associated with diffuse erythematous nodules on the anterior region of the thigh. The pathological study suggested an adnexal carcinoma of the apocrine type. Surgical treatment was not feasible, therefore primary exclusive radiotherapy was administered at a total dose of 70 Gy in 35 fractions of 2 Gy each. Radiotherapy went well with some adverse events. One-month post-radiation assessment showed clinical and radiological progression.
PubMed: 38721194
DOI: 10.7759/cureus.57859 -
Journal of Animal Science and... May 2024Thermal stress in subtropical regions is a major limiting factor in beef cattle production systems with around $369 million being lost annually due to reduced...
BACKGROUND
Thermal stress in subtropical regions is a major limiting factor in beef cattle production systems with around $369 million being lost annually due to reduced performance. Heat stress causes numerous physiological and behavioral disturbances including reduced feed intake and decreased production levels. Cattle utilize various physiological mechanisms such as sweating to regulate internal heat. Variation in these traits can help identify genetic variants that control sweat gland properties and subsequently allow for genetic selection of cattle with greater thermotolerance.
METHODS
This study used 2,401 Brangus cattle from two commercial ranches in Florida. Precise phenotypes that contribute to an animal's ability to manage heat stress were calculated from skin biopsies and included sweat gland area, sweat gland depth, and sweat gland length. All animals were genotyped with the Bovine GGP F250K, and BLUPF90 software was used to estimate genetic parameters and for Genome Wide Association Study.
RESULTS
Sweat gland phenotypes heritability ranged from 0.17 to 0.42 indicating a moderate amount of the phenotypic variation is due to genetics, allowing producers the ability to select for favorable sweat gland properties. A weighted single-step GWAS using sliding 10 kb windows identified multiple quantitative trait loci (QTLs) explaining a significant amount of genetic variation. QTLs located on BTA7 and BTA12 explained over 1.0% of genetic variance and overlap the ADGRV1 and CCDC168 genes, respectively. The variants identified in this study are implicated in processes related to immune function and cellular proliferation which could be relevant to heat management. Breed of Origin Alleles (BOA) were predicted using local ancestry in admixed populations (LAMP-LD), allowing for identification of markers' origin from either Brahman or Angus ancestry. A BOA GWAS was performed to identify regions inherited from particular ancestral breeds that might have a significant impact on sweat gland phenotypes.
CONCLUSIONS
The results of the BOA GWAS indicate that both Brahman and Angus alleles contribute positively to sweat gland traits, as evidenced by favorable marker effects observed from both genetic backgrounds. Understanding and utilizing genetic traits that confer better heat tolerance is a proactive approach to managing the impacts of climate change on livestock farming.
PubMed: 38715151
DOI: 10.1186/s40104-024-01025-4