Search results for "Skin Carcinoma"
showing 2 items of 2 documents
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
2014
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849…
Features of biopsy in diagnosis of metatypical basal cell carcinoma (Basosquamous Carcinoma) of head and neck
2012
Metatypical Basal Cell Carcinoma, also known as Basosquamous Carcinoma is a subtype of Basal Cell Carcinoma. It is similar to Basal Cell Carcinoma for the gross aspect and regional recurrences, but it has the capacity to spread and develop metastasis. This terrible characteristic endangers the life of the patient if it is not readily recognized by the physicians. Herein we present a report of two patients affected by BSC originating in the nasal region and external ear that after a series of devastating local recurrences metastasized to the lung and bones in one case. The true incidence of Basoquamous Carcinoma may be higher, with underreporting arising because of rarity of diagnosis and la…