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Nonpigmented skin lesions
Published in Giuseppe Micali, Francesco Lacarrubba, Dermatoscopy in Clinical Practice, 2018
SHs begin to appear in the fifth or sixth decade of a person’s life and continue to appear into later life. However, premature or familial cases have been reported in which younger individuals are affected with multiple lesions, suggesting a genetic predisposition. SH incidence significantly increases in transplant patients, particularly males following heart and renal transplantation, and this may be related to immunosuppressive therapy. It has been reported in association with internal malignancy in the setting of Muir-Torre syndrome. SH has no direct association with malignant degeneration and is not a cause of morbidity; therefore, it is often found incidentally upon examination.
Benign and Malignant Conditions of the Skin
Published in John C Watkinson, Raymond W Clarke, Terry M Jones, Vinidh Paleri, Nicholas White, Tim Woolford, Head & Neck Surgery Plastic Surgery, 2018
Murtaza Khan, Agustin Martin-Clavijo
Sebaceous adenomas are benign adnexal neoplasm resulting from the proliferation of sebaceous gland-like structures. They appear as a small, slow growing, smooth, pink or yellow papules with central umbilication on the face or scalp. Lesions may be single or multiple. They may be mistaken for BCCs and histological confirmation is essential. These are rare neoplasms and often linked to Muir-Torre syndrome, which is a hereditary cancer syndrome characterized by visceral malignancies. Sebaceous adenomas should prompt a careful evaluation of the patient with attention to their family history for internal organ cancers.
Malignant Neoplasms of the Colon
Published in Philip H. Gordon, Santhat Nivatvongs, Lee E. Smith, Scott Thorn Barrows, Carla Gunn, Gregory Blew, David Ehlert, Craig Kiefer, Kim Martens, Neoplasms of the Colon, Rectum, and Anus, 2007
In their review, DeFrancisco and Grady (51) cited the causative genes of HNPCC in decreasing frequency of occurrence to include MLH1, MSH2, MSH6, MLH3, PMS1, PMS2, TGFBR2, and EXO1. Peltomaki summarized the phenotypic features associated with germline mutations manifesting a predisposition to HNPCC (42). MLH1 is mostly associated with typical HNPCC. Approximately 30% of mutations are of the missense type whose phenotypic manifestations may vary. MSH2 is also mostly associated with typical HNPCC. Extracolonic carcinomas may be more common than in MLH1 mutation carriers. It is a major gene underlying the Muir-Torre syndrome. MSH6 is associated with typical or atypical HNPCC. It is often characterized by late onset, frequent occurrence of endometrial carcinoma, distal location of colorectal carcinomas, and low degree of MSI in carcinomas. PMS2 is also associated with typical or atypical HNPCC. The penetrance of mutations may vary. It is a major gene underlying Turcot’s syndrome. MLH3 is seen mostly in atypical HNPCC. It may be characterized by distal location of colorectal carcinomas and variable degrees of MSI in carcinomas. EXO1 is mostly seen in atypical HNPCC. It may be associated with MSI in carcinomas.
Triumph against cancer: invading colorectal cancer with nanotechnology
Published in Expert Opinion on Drug Delivery, 2021
Preksha Vinchhi, Mayur M. Patel
Approximately, 70–80% of CRCs are sporadic which typically results from mutations that affect Wnt/β catenin signaling pathway. Remaining 20–30% of CRC cases account for hereditary CRC which includes hereditary nonpolyposis CRC/Lynch syndrome (2–4%), familial adenomatous polyposis (FAP) (1%) and MUTYH associated polyposis (MAP) (1%). Lynch syndrome is caused because of mutation in the genes involved in DNA mismatch repair, e.g. MutL homolog 1(MLH 1), MutS protein homolog 2(MSH 2), MutS protein homolog 6 (MSH 6), Mismatch repair endonuclease (PMS2) and epithelial cell adhesion molecule (EpCAM). Whereas FAP is caused by mutations in adenomatous polyposis coli (APC – a tumor suppressor gene). Juvenile polyposis, peutz jeghers disease, muir torre syndrome, Cowden disease are some of the rare hereditary syndromes [13].
A rare concurrence of Muir-Torre-associated sebaceous carcinoma in the setting of a lipedematous scalp
Published in Case Reports in Plastic Surgery and Hand Surgery, 2020
Allison Shanks, Jake Laun, Amanda Holstein, Saksham Varshney, Jane Messina, Carl Wayne Cruse
Sebaceous carcinomas are rare among the general population and are known to be characteristic of Muir Torre Syndrome (MTS). MTS is a genetic disorder that is characterized by a predisposition to sebaceous skin cancers, keratoacanthomas, as well as visceral cancers, most commonly gastrointestinal and genitourinary cancers; it is considered a variant of hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome. Muir originally described MTS in 1967 with Torre reporting a patient in 1968 [1]. It was not until 1981 that Lynch recognized the connection with MTS and colorectal cancer [1]. This autosomal dominant condition is caused by mutations in one or more DNA mismatch repair (MMR) genes which predispose to microsatellite instability and genomic alterations leading to the development of the tumors. Diagnosis with MTS requires at least one sebaceous tumor and one visceral or internal organ cancer within the patient’s lifetime and not affected by other factors such as radiation or AIDS. Other important clinical factors that should be considered in the diagnosis of MTS are the following: age younger than 60 at presentation of first sebaceous tumor, total number of sebaceous neoplasms as well as a personal or family history of Lynch syndrome related cancers. Often, those with an unclear family history can be discovered through the presence of the skin lesion, similar to our patient [2,3]. The skin lesions may be benign or malignant tumors. Sebaceous carcinoma is historically categorized as tumors arising from ocular and extra-ocular origin (due to the high concentrations of sebaceous, Meibomian glands), with ocular accounting for 75 percent of all sebaceous carcinomas [4,5].
Nasolacrimal duct obstruction secondary to lacrimal sac involvement by sebaceous carcinoma
Published in Orbit, 2020
Albert Wu, David S Curragh, Rebecca Morrow, Dinesh Selva, Garry Davis
An endoscopic dacryocystorhinostomy (DCR) was performed. After opening the lacrimal sac, a polypoidal mass was seen obscuring the internal opening of the common canaliculus. Biopsy of the mass revealed a lobulated malignant basaloid tumour with diffuse infiltration of the submucosal stroma (Figure 2). The lesional cells showed nuclear atypia, and sebaceous differentiation in the form of clear cytoplasmic vacuoles indenting the nuclei. Mitoses were readily identified. On immunohistochemistry, the tumour showed positive labelling for AR, CK7, CD117 and adipophilin (Figure 3), supporting the morphological impression of a poorly differentiated SC. The SC extended to the deep margin at the base of the polyp. As sebaceous neoplasms can occur in Muir-Torre syndrome, immunohistochemistry for mismatch repair proteins was performed and showed no loss of nuclear labelling of MLH1, MSH2, MSH6 and PMS2. The lacrimal drainage apparatus was subsequently excised via a combined external and endoscopic approach, and conjunctival map biopsies were taken. From an endoscopic approach, the nasolacrimal duct was accessed by excising the anterior head of the inferior turbinate to free the nasolacrimal duct from its bony canal. Mucosal incisions were made around both the opening of the nasolacrimal duct in the inferior meatus and the residual opened lacrimal sac to free it from the nasal mucosal aspect. Subsequently, via an external incision, similar to that created for an external DCR, the lacrimal drainage apparatus was removed en bloc after freeing the canaliculi from the medial canthus. Histology confirmed invasive SC in the lacrimal drainage apparatus, and extensive intraepithelial disease colonising the superior tarsal and bulbar conjunctiva (Figure 2). The AJCC 8th Edition category was T4b.