BACKGROUND Pachyonychia congenita (PC) is a genodermatosis caused by mutations in 1 of 4 known keratin genes, including KRT6A, KRT6B, KRT16, or KRT17. The most common mode of inheritance is autosomal dominant. Families with an affected parent are routinely counseled about the 50% transmission risk to each offspring. In some cases, families with a rare disorder like PC can initially present with...

Pachyonychia Congenita (PC) is a rare autosomal dominant keratin disorder that affects a number of ectodermal structures including the nails and palmoplantar skin, and often involves the oral mucosa, tongue, larynx, teeth and hair. Clinical features are usually present at birth or early infancy. There are two main subtypes of PC. Fingernail thickening and oral keratosis are more common and seve...

526 Ann Dermatol Received September 21, 2012, Revised January 29, 2013, Accepted for publication February 2, 2013 *Hyung Ok Kim and Bo In Lee have equal contribution to this study and are co-first authors of this paper. Corresponding author: Young Min Park, Department of Dermatology, Seoul St. Mary’s Hospital, The Catholic University of Korea College of Medicine, 222 Banpo-daero, Seocho-gu, Seo...

introduction: hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2–4 cases per 1,000 live births. sensory-neural hearing loss (snhl) accounts for more than 90% of all hearing loss. this disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. given that congenital heart diseases are life-thre...

background: delayed or missed diagnosis of critical and cyanotic congenital heart disease (chd) in asymptomatic newborns may result in significant morbidity and mortality. the aim of this study was to determine the accuracy of pulse oximetry screening  performed on the first day of life for the early detection of critical and cyanotic chd in apparently normal newborns. methods: this cross-secti...

The phenotypic (observed), genetic, and environmental correlations were examined in a sample of adult twins between the four factors and global score of the trait emotional intelligence questionnaire (TEIQue) and the seven vocational interest factors of the Jackson Career Explorer (JCE). Multiple significant correlations were found involving the work style vocational interest factor (consisting...