Familial tylosis

Tylosis and Oesophageal Carcinoma

structure of the epidermis of those areas of skin subject to tylosis, and we suggest that both tissues may be responsive to the same functional requirement-namely, the need to provide resistance to mechanical friction. Human epidermis can be classified into "thick" and "thin" types.3 Thick skin is found most characteristically on the palms and soles, and relative to thin skin it has a thicker s...

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms

Tylosis (hyperkeratosis palmaris et plantaris) is characterised by focal thickening of the skin of the hands and feet and is associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. This risk has been calculated to be 95% at the age of 65 in one large family, however the frequency of the disorder in the general population is not known and is likely to b...

LE PLACEMENT FAMILIAL

Familial hypercholesterolemia: a case report

Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...

The Inheritance of Tylosis Palmaris et Plantaris in Two Families in Northern Ireland

STEVENSON and Pearson (1953) recorded the inheritance of tylosis palmaris et plantaris in one large family in Northern Ireland, and an isolated case which they regarded as an example of a new mutation. It seems worth recording two additional families for a number of reasons. The condition is an example of a trait carried by a regular dominant gene, which appears always to be expressed. It seems...