Fibrous papule of the face with granular cells.
ABSTRACT Fibrous papule of the face is a common benign lesion located most often on the nose. It presents usually as a single small, firm, skin-coloured papule and is often misdiagnosed as melanocytic naevus, wart or small nodular basal cell carcinoma. Histopathologically, the lesions are characterized by involvement of the upper dermis by a fibrovascular proliferation and scattered triangular or stellate, often multinucleated cells. Uncommon histopathologic variants of fibrous papule of the face include hypercellular, clear-cell, pleomorphic, pigmented, inflammatory and granular-cell types. We present here a patient with the syndrome of familial cancer and fibrous papule of the face with granular cells. The granules stained strongly with PAS stain, as well as with CD68 and NKI/C3 immunostains, whereas S-100 protein resulted negative. In our patient the mutations in the 2 most often affected DNA mismatch repair genes of Muir-Torre syndrome were not found, therefore the origin of the familial cancer syndrome remains unknown. Probably the occurrence of the granular-cell fibrous papule of the face was coincidental.
Article: Muir-Torre Syndrome[Show abstract] [Hide abstract]
ABSTRACT: Muir-Torre syndrome is an autosomal-dominant skin condition of genetic origin, characterised by tumours of the sebaceous gland or keratoacanthoma that are associated with visceral malignant diseases. The cutaneous characteristics of Muir-Torre syndrome are sebaceous adenoma, epithelioma, carcinoma, or multiple keratoacanthomas, whereas visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal tumours. Although Muir-Torre syndrome has a striking familial association and features of autosomal-dominant transmission, it can arise in individuals without a family history or any known mutations. Clinical and biomolecular evidence has suggested that there are two types of Muir-Torre syndrome. The most common is a variant of hereditary non-polyposis colorectal cancer, which is characterised by defects in mismatch repair genes and early-onset tumours. The second type does not show deficiency in mismatch repair and its pathogenesis remains undefined. Diagnosis of these rare sebaceous lesions warrants the search for associated internal malignant diseases: the peculiarity of skin lesions and their biomolecular characterisation with microsatellite instability analysis and immunohistochemistry could be used to identify familial Muir-Torre syndrome, allowing clinicians to tailor a personalised programme to screen for skin and visceral malignant diseases in high-risk individuals.The Lancet Oncology 01/2006; 6(12):980-7. DOI:10.1016/S1470-2045(05)70465-4 · 24.73 Impact Factor
Article: Muir-Torre syndromeDermatology 02/2008; 217(1):56-7; author reply 57. DOI:10.1159/000123520 · 1.69 Impact Factor
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ABSTRACT: Dermal non-neural granular cell tumors are rare tumors of indeterminate lineage that typically present as well-circumscribed tumors with nuclear pleomorphism and mitotic activity. We describe a dermal non-neural granular cell tumor with a distinctive growth pattern with granular cells interspersed between collagen bundles. This asymptomatic papule arose on the scapula of a 46-year-old woman and consisted of a mixture of epithelioid and spindled granular cells. The immunohistochemical characteristics were similar to those of previously reported dermal non-neural granular cell tumors. Despite mild nuclear pleomorphism and dispersion of lesional cells among collagen bundles, mitoses were not present and Ki-67 staining indicated a low proliferative rate. In addition to being S-100 protein negative and NKI/C3 positive, our case was positive for PGP9.5 and weakly positive for neuron-specific enolase, a staining pattern similar to what has been observed for cellular neurothekeomas. Our case could represent a dermal non-neural granular cell tumor with unique architecture, a granular cellular neurothekeoma or a granular cell dermatofibroma. As both dermal non-neural granular cell tumor and cellular neurothekeoma are of indeterminate lineage, our case with features characteristic of both entities may suggest a common precursor or lineage for dermal non-neural granular cell tumor and cellular neurothekeoma.Journal of Cutaneous Pathology 02/2009; 36 Suppl 1(Suppl 1):46-51. DOI:10.1111/j.1600-0560.2008.01214.x · 1.56 Impact Factor