A newborn male was noted to have bilateral congenital corneal opacification. Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. Bilateral penetrating keratoplasties were performed; histopathologic examination revealed diffuse epithelial thi...

INTRODUCTION Aplasia cutis congenita (ACC), is a rare anomaly presenting with a solitary scalp lesion of skin abrasion. Lesions can be multiple and on different surfaces of the body but are mostly seen on the scalp (%70) as a solitary lesion. As it is a rare disease, we aimed to describe our case with ACC. CASE REPORT Our case was a newborn infant with a large full thickness skin and skull de...

Aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin. It rarely occurs on the trunk and limbs, and can occur in isolation or as part of a heterogeneous group of syndromes. We report a case of a 4-day-old boy with a 5.6-cm- diameter tumor, with a central crust, non-indurate and no inflammatory rim; localized on the scalp and a small, atrophic h...

Agenesis of scalp is an uncommon but well-recognized clinical entity. Congenital scalp and skull defects can be either obvious or occult; over 300 cases have been reported in literature. Aplasia cutis congenita (ACC) is recognized as a heterogeneous disorder, all characterized by focal absence of the epidermis, dermis and sometimes the calvarium and/or dura. We present a case of ACC in an infan...

1602 Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type L. Van Maldergem, M. Yuksel-Apak, H. Kayserili, E. Seemanova, S. Giurgea, L. Basel-Vanagaite, E. Leao-Teles, J. Vigneron, M. Foulon, M. Greally, J. Jaeken, S. Mundlos, and W.B. Dobyns 1609 Is there a link between alertness and fatigue in patients with traumatic brain injury? G. Chaumet, M.-A. Q...

A Cumulative Sum (CUSUM) control chart capable of detecting changes in both the mean and the standard deviation for autocorrelated data, referred to as the Max-CUSUM chart for Autocorrelated Process chart (MCAP chart), is proposed. This chart is based on fitting a time series model to the data, and then calculating the residuals. The observations are represented as a first-order autoregressive ...

cPAN: cutaneous polyarteritis nodosa IL: interleukin pANCA: perinuclear antineutrophil cytoplasmic antibodies INTRODUCTION Cutaneous polyarteritis nodosa (cPAN) is a vasculitis of medium-sized arteries in the dermis and subcutaneous tissues. Etiology is currently unknown, although it may be immune complex mediated and has been linked to various infections, drugs, and autoimmune diseases. Dermat...

We analysed phylogeography and population genetic variation across the range of the western pond turtle (Emys marmorata) using rapidly evolving mitochondrial and nuclear DNA sequence data. Nuclear DNA sequences from two unlinked introns displayed extremely low levels of variation, but phylogenetic analyses based on mtDNA recovered four well-supported and geographically coherent clades. These in...

BACKGROUND Sneddon's syndrome is a disease characterized by livedo reticularis and cerebrovascular lesions, with a hereditary transmission and unknown etiopathogenesis. A number of reports have documented a link between antiphospholipid antibodies and Sneddon's syndrome with different results. The present work was designed to sequentially study antiphospholipid antibodies in a patient with Sned...