Susanna K Fistarol | Search PubMed

PubMedDate not supplied

Nail changes in genodermatoses.

Nail changes may be marker lesions for complex systemic disorders and herald associated syndromes. Knowledge of the anatomy, embryology and biochemical properties of the nail apparatus is essential for understanding the pathogenesis of hereditary nail disorders. In the last few years significant progress has been made in the field of clinical and molecular pathology of human diseases. A considerable number of the genes responsible for genodermatoses have been identified. The homeobox master control genes, genes encoding for transcription factors, genes encoding for the maintenance of telomeres, or for structural molecules, such as the similarly evolutionary highly conserved a-helical rod domains of keratins, are involved in the embryogenesis and normal functioning of nails. Using nail changes in selected genodermatoses with a known genetic background, we try to elucidate the genesis of inherited nail disorders and review the resultant clinical manifestations.

Abnormalities, Multiple↗

PubMedDate not supplied

Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy.

Cowden disease (CD) #158350, also known as multiple hamartoma syndrome, is a multisystemic cancer predisposition disorder, inherited in an autosomal dominant pattern. Mucocutaneous lesions are the most constant features: facial papules, acral keratoses and oral papillomatosis. The most common associated cancers are breast, thyroid and endometrial carcinomas. The CD gene locus has been mapped to chromosome 10q22-23. Subsequently the tumor suppressor gene PTEN was located to this chromosomal region and soon after germline mutations in the PTEN gene were demonstrated in CD patients. Somatic PTEN mutations have been found in a variety of sporadic cancers. So CD is an important clinical and genetic model for carcinogenesis. We recently observed four cases of CD and reviewed the literature on CD over the last 40 years, in particular the clinical and histopathological features, genetics, and diagnostic criteria. Based on these data we propose a possible management of CD patients. With increased knowledge and awareness of the typical mucocutaneous lesions an earlier diagnosis and an appropriate cancer surveillance of these patients might be possible.

Adult↗