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Brooke–Spiegler Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
BSS and its phenotypic variants FC and MFT show autosomal dominant transmission, with one copy of the mutated CYLD gene inherited from affected or carrier parents and a second copy caused by another genetic event during a person's lifetime. In addition, sporadic cases due to loss of both alleles of the CYLD gene occur occasionally. However, unlike inherited cases that are associated with multiple lesions, sporadic cases usually cause solitary lesion.
Skin and soft tissue
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Brooke–Spiegler syndrome shows AD inheritance with variable expression, with a predisposition to develop multiple appendigeal tumours, e.g. trichoepitheliomas, spiradenomas and cylindromas, etc. The gene CYLD has been localised to the 16q chromosome and encodes a deubiquinating enzyme whose exact biological function is yet to be elucidated.
Skin
Published in Pritam S. Sahota, James A. Popp, Jerry F. Hardisty, Chirukandath Gopinath, Page R. Bouchard, Toxicologic Pathology, 2018
Zbigniew W. Wojcinski, Lydia Andrews-Jones, Daher Ibrahim Aibo, Rie Kikkawa, Robert Dunstan
Trichoepithelioma is usually a single well-delineated nodule that histologically contains multiple cystic islands and nests of epithelial cells that form all layers of the hair follicle. These nests and islands are lined by basophilic matrical cells, larger cells with a pale eosninophilic cytoplasm and a vesicular nucleus (resembling cells of the external rooth sheath) and cells containing trichohyaline granules resembling cells of the inner root sheath. These Islands and nests are usually surrounded by a thick basement membrane. The center of the islands and nests is filled with keratin with abrupt transition between the epithelium and keratin but do not form an infundibulum or contain mature hair shafts (immature, rudimentary hair follicle formation could be observed in the center of some of the islands/nests), or ghost cells (Tellechia 2015) (Figure 21.6f). Some of these islands centrifugally send a few cell-thick trabeculae lined by basophilic cells. Some of the cystic islands may be large forming a substantial part of the tumor. A desmoplastic version of trichoepithelioma has been described with extensive dense collagenous stroma that compresses and dissects elongated trabeculae lined by mostly basophilic cells. This is a rare tumor in laboratory animals with again the dog being the species with a few publications including few reports of malignant trichoepitheliomas (Hoshino et al. 2012; Mecklenberg et al. 2013; Adedeji et al. 2017). It has also been reported in rat and in wild type mouse or in mouse overexpressing GLI-1 in the skin (Maekawa 1989; Zwicker et al. 1992; Martin de Las Mulas et al. 2007). In people, multiple familial trichoepitheliomas linked to mutations in CYLD, a tumor suppressor gene has been described (Salhi et al. 2004).
Morpheaform basal cell carcinoma of the nasal ala associated with multiple familial trichoepithelioma reconstructed by anterolateral thigh flap: a case report
Published in Case Reports in Plastic Surgery and Hand Surgery, 2023
Masakatsu Hihara, Yuuki Kouchi, Tsugumi Takao, Maako Fujita, Natsuko Kakudo
The patient was a 50-year-old woman who had a common papular eruption on the nasal area that had been present since 12 years of age. This became blackish and then ulcerated from 48 years of age. When the patient was seen, the nasal wings had already been destroyed, and a biopsy of the 45 × 35 mm ulcer area confirmed the diagnosis of morpheaform BCC. Multiple normal-colored papules on the face were diagnosed as multiple familial trichoepithelioma on a histopathological exam. Multiple familial trichoepithelioma has been implicated in CYLD1 gene abnormalities [1,2]. The diagnosis of Brooke-Spiegler syndrome was based on a clinical diagnosis and family history [1]. Multiple rice-grain-sized nodules on the forehead, nose, and nasolabial folds were pathologically diagnosed as trichoepithelioma [2]. The father, the father’s sister, and the paternal grandfather had the same characteristic symptoms, and the disease was inherited as an autosomal manifestation (dominant inheritance). Based on these two facts, we concluded that the diagnosis in this patient was Brooke-Spiegler syndrome. A genetic analysis including the CYLD gene will be performed in the future.
CYLD expression in dendritic cells involved in the immunoregulation of pulmonary adenocarcinoma via NF-κB pathway
Published in Artificial Cells, Nanomedicine, and Biotechnology, 2020
Qinghua Yu, Yujie Lei, Yunchao Huang, Jiguang Zhang, Yangming Chen, Kai Chen, Jianbin Lin, Shihui Sun, Xing Lin
CYLD is a deubiquitination enzyme, it was involved in the progression of physiological processes via regulating various signalling pathways. Zhang et al. showed that CYLD could activate TGF-β-activated kinase 1 (TAK1), which regulates the inflammatory signalling pathway via repressing Toll-like receptor signaling [28]. CYLD was also reported to regulate cGAS-STING signalling pathway in HSV-1 stimulation via by stabilising the STING protein [29]. Moreover, the relationship between CYLD and NF-κB pathway is puzzling [30]. CYLD negatively regulates NF-κB signalling in high glucose-induced mesangial cells [31] and in cerebral Ischemia/Reperfusion rats [32]. However, T cells from CYLD overexpressed mice showed an increase of inflammatory cytokines and evident activation of the NF-κB pathway [33]. In this study, decreased expression and reduced the nuclear translocation of NF-κB signalling was observed in CYLD knockout DCs. Inhibiting NF-κB pathway repressed DCs-induced proliferation and function of CD4+ T Cells.
IL-33 drives the antitumour effects of dendritic cells via upregulating CYLD expression in pulmonary adenocarcinoma
Published in Artificial Cells, Nanomedicine, and Biotechnology, 2019
Jiguang Zhang, Yangming Chen, Kai Chen, Yunchao Huang, Xunyu Xu, Qianshun Chen, Chen Huang, Jiewei Luo, Xing Lin
The cylindromatosis (CYLD), a deubiquitination enzyme, was initially identified as a tumour suppressor in skin cancer [34], colon carcinoma [35], chronic lymphocytic leukaemia [36] and acute lymphoblastic leukaemia [37] hepatocellular carcinoma [38]. Moreover, the CYLD was involved in inflammation in colitis [39] and acute lung injury [40]. Recent studies showed that CYLD was involved in immune regulatory by regulating the function of immune cells. For example, Tang et al. showed that Transgenic CYLD prevented the differentiation of Treg cells and Th17 cells, and increased differentiation of Th1 cells [39]. Wex et al. showed that CYLD in macrophages was involved in antibacterial immune responses [41,42]. CYLD was also reported to regulate DCs function [43]. In this study, IL-33 treatment induced DCs maturation by upregulating CYLD expression in DCs. In addition, CYLD played an important role in DCs-induced T cell proliferation and IL-17 secretion.