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Cowden syndrome is a rare autosomal dominant condition characterised by mucocutaneous hamartomas and, most importantly, predisposition to various extracutaneous benign and malignant tumours. This disorder is associated with a germline mutation in the phosphatase and tensin homologue gene, a tumour suppressor gene, located on 10q23 chromosome. The expressivity of this genodermatosis is highly variable, therefore many of the cases remain undiagnosed. Skin and mucous findings are very common in Cowden syndrome and may represent the initial clinical manifestation leading to the diagnosis. The authors describe a case of a 58-year-old man with multiple cutaneous sclerotic fibromas associated with a previously unrecognised Cowden syndrome., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Basal cell carcinoma is the most frequent cutaneous neoplasm, with slowly progressive nature and locally invasive behavior. Despite the low metastatic potential, local tissue destruction and disfigurement caused by the tumor can be large if not eradicated in time by early diagnosis and treatment. Both genetic predisposition and exposure to environmental risks are involved in the pathogenesis of the malignant transformation in BCC. The total number of nonmelanocytic skin cancers is a risk factor for recurrence of previous tumor, on the one hand, as well as for the formation of new ones, on the other. It is still unclear what environmental and genetic factors contribute to the development of multiple nonsyndromic BCCs. We present a man with multiple sporadic, nonsyndromic BCCs, with a history of even more lesions, removed earlier, as we discuss the potential triggering risk factors and pathogenic mechanisms of malignant transformation and the further appropriate therapeutic options. The early detection and eradication of these tumors are of importance for treatment effectiveness and quality of life because although rarely metastatic, BCCs could have an aggressive course and behavior which can lead to severe disfiguration and destruction.

A 16-year-old African American male, the youngest patient to date, presented with a well-circumscribed upper eyelid lesion. On excision, the dermal nodule was contiguous with the epidermis, displayed trichohyalin-like bodies in an expanded outer root sheath, and was composed chiefly of small cellular clusters separated by a prominent network of periodic acid Schiff -positive hyaline bands of basement membrane material. The tumor cells were positive for high molecular weight cytokeratins (CK) 5/6, CK14, and CK34βE12 and were negative for CK7, carcinoembryonic antigen and epithelial membrane antigen. Negative S100, glial fibrillary acidic protein, and smooth muscle actin immunoreactions ruled out a myoepithelial lesion. The Ki-67 proliferation index was <10%. The diagnosis was a hyalinized trichilemmoma, contrasting with the more common lobular type. As an isolated lesion, trichilemmoma does not portend Cowden syndrome.

Basal cell nevus syndrome is an autosomal dominant disorder characterized by the developmental malformations and its carcinogenic nature. This syndrome shows various symptoms of multiple cutaneous basal cell carcinoma, ketatocystic odontogenic tumors, and inborn abnormalities in the bone and skin. Although basal cell nevus syndrome itself is a rare disorder, we experienced a very rare case in which squamous cell carcinoma of the oral cavity developed, and not cutaneous basal cell carcinoma. Only 4 similar cases have been reported in the English literature. The patient was a 33-year-old woman. She was diagnosed as having squamous cell carcinoma of the hard palate, and basal cell nevus syndrome in our hospital. The patient underwent surgery for squamous cell carcinoma of the hard palate, with postoperative chemoradiothetrapy. Since patients with this syndrome tend to form basal cell carcinoma when exposed to X-ray radiation, we perform radiotherapy with care.

We report a rare case of simultaneous multiple basal cell carcinomata occurring on the back of a patient who had received dry ice treatment to this area almost 6 decades previously. This is also one of the longest recorded disease-free intervals between skin trauma and basal cell carcinoma development. We discuss the aetiopathology of multiple skin cancers in our patient and the propensity for destructive skin events to predispose to malignancy., (© 2012 The Authors. Australasian Journal of Dermatology © 2012 The Australasian College of Dermatologists.)