Squamous cell carcinomas in a 31-year-old patient with Rothmund-Thomson syndrome

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Squamous cell carcinomas are malignant epithelial tumours frequently found in patients over 60-65 years old, with only 1-6% [2] of the cases being diagnosed in patients younger than 40 years. Rarely, it appears as a sign or complication of a genetic condition such as Rothmund-Thomson syndrome or poikiloderma congenitale, an autosomal recessive disorder due to mutations of RECQL4 helicase gene on 8q24 [2]. Furthermore, there are only 300 cases reported in the literature so far [3]. Beside skin tumours, this condition is characterized by redness and atrophy of the skin, small stature, sparse hair, teeth and nails abnormalities, osteopenia, osteoporosis or osteosarcomas [4, 5]. We report an interesting case of a 32-year-old patient known with Rothmund-Thomas syndrome and multiple skin tumours excised over the past few years, which presented with two skin tumours on the cheek and on the nasal region, measuring 1 cm and 0,7 cm in diameter (Figure 1). Histologically, both tumours were composed of malignant and pleomorphic keratinocytes, with enlarged nuclei, evident nucleoli and numerous atypical mitosis (Figure 2,3) infiltrating the deeper portions of the dermis. One tumour also presented keratin formation, thus diagnosed as keratinized squamous cell carcinoma, while the other was non-keratinized squamous cell carcinoma (Figure 4,5).