Cardiac abnormalities in familial palmoplantar keratosis.

Cardiac abnormalities in familial palmoplantar keratosis.

Cardiac abnormalities were identified in patients with familial palmoplantar keratosis. All of them were descended from families on the Greek island of Naxos. Four families were studied and nine cases of palmoplantar keratosis were identified; seven of them showed symptoms and signs of heart disease. Cardiomegaly on chest x ray and electrocardiographic abnormalities were common findings. Three ...

Possible Nagashima-Type Palmoplantar Keratosis in Two Siblings

Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK. Since its pathogenesis remains unclear, it is important to clarify the mode of inheritance. Here, we present a case of possible Nagashima-type PPK in 2 siblings. The siblings ...

Nagashima-type palmoplantar keratosis in a Chinese Han population

Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing ...

Multiple seborrheic keratosis in a patient with familial benign pemphigus

Hailey-Hailey disease (HHD) or familial benign chronic pemphigus is a dermatosis with an autosomal dominant inheritance characterized by full penetrance and variable expressivity: from individual resembling eczema lesions to extensive lesions of the skin. HHD causes mutations in the gene ATP2C1, which encodes the ATPase calcium-magnesium secretory mechanism of a human [1,2]. The mechanism by wh...

Corneal Imaging Abnormalities in Familial Keratoconus.