Muir-Torre Syndrome With Intriguing Squamous Lesions

Abstract

Muir-Torre syndrome (MTS) is an autosomal, dominantly inherited disorder characterized by sebaceous neoplasms and visceral malignancies. We report a 56-year-old woman who underwent resections of extraocular sebaceous carcinoma, sebaceous epithelioma, actinic keratosis, and keratoacanthoma (KA)-like squamous cell carcinoma (SCC) with venous invasion metachronously over a 9-year period. Because of the mixed, unusual features of the skin lesions, and her history of endometrial and colorectal cancers that had been resected 12 years and 1 year, respectively, before the present event, a possible diagnosis of Muir-Torre syndrome was suggested. Immunohistochemical studies revealed loss of hMSH2 expression in all the cutaneous lesions including the actinic keratosis, and also in the endometrial and colorectal cancers. This patient presented with intriguing squamous lesions including keratoacanthoma-like squamous cell carcinoma that showed venous invasion and actinic keratosis, and associated loss of hMSH2 expression, in addition to the sebaceous neoplasms typical of Muir-Torre syndrome.

Depressed‐type submucosal invasive colorectal cancer in a patient with Lynch syndrome diagnosed using short‐interval colonoscopy

“…NCCN guidelines show that patients with MLH1 or MSH2 germline mutation have a high cancer predisposition rather than those with MSH6 and PMS2 mutation, not only in the colon and rectum, but also in other organs. Parry et al have reported the risk of metachronous CRC with LS undergoing 9 There is a possibility that the phenotype of CRC might be stronger in Muir-Torre syndrome than in other LS. There is no risk stratification in the same gene mutation group at present, but we must carefully identify high-risk LS patients; for example, those who are detected with colorectal neoplasms during annual SC or who have a strong family history.…”

Eruptive postoperative squamous cell carcinomas exhibiting a pathergy-like reaction around surgical wound sites

“…Although it is well documented that the development of SCCs is linked to ultraviolet light exposure, specifically cumulative lifetime exposure to ultraviolet radiation, other risk factors and clinical syndromes have been clinically demonstrated to contribute to the development of SCC. Ionizing radiation, 5 arsenic, 6 cigarette smoking, 7 human papillomavirus, 8 and organ transplantation 9 are some of the acquired risk factors, whereas xeroderma pigmentosum, 10 oculocutaneous albinism, 11 Ferguson-Smith syndrome, 12 and Muir-Torre syndrome 13 represent examples of predisposing inherited syndromes. SCCs have also been reported to have arisen in chronic, nonhealing wounds and ulcers, 14 burn scars, 15 sites of radiation exposure, 16 and certain inflammatory conditions such as dystrophic epidermolysis bullosa, 17 lupus erythematosus, 18 lichen planus, 19 lichen slcerosis, 20 and porokeratosis.…”

Multiple keratoses and yellow papules

“…Nishizawa et al. 3 described a case of MTS characterized by multiple skin lesions (sebaceous carcinoma, sebaceous epithelioma, AK and SCC) associated with visceral malignancies (colorectal and endometrial cancers) and showed loss of MSH‐2 expression in all these skin lesions and also in the visceral malignancies.…”

“…The most frequent visceral neoplasm associated with MTS is colorectal cancer (50%) followed by genitourinary neoplasms (25%) 4 . Other associated tumours include endometrial, breast, lung, gastric, small intestine and haematological malignancies 3,4 . These tumours may appear many years before or after the skin lesions 4 .…”

“…Sebaceous neoplasms are reported to be so rare that diagnosing one should alert the clinician to the possibility of this condition 4 . Keratoacanthomas and other types of cutaneous SCC may also be associated, but they are not useful for screening for MTS because they are commonly seen in the general population 1,3,6 …”