Sturge-Weber syndrome: an update for the pediatrician.

Background: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations. SWS usually presents as a facial port-wine birthmark, with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities. The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma.

Capillary malformations in a child caused by a novel HRAS mutation.

A 6-year-old boy with multiple capillary malformations of the port-wine birthmark (PWB) type on the right leg since birth presented with a varicose vein and segmental overgrowth of the affected leg. Genetic testing on affected skin confirmed the presence of a somatic novel pathogenic HRAS 30 bp in-frame duplication/insertion in the switch II domain. This case illustrates the phenotypic overlap of different genotypes and shows that somatic HRAS pathogenic variants, especially in-frame duplications/insertions, must be added to the list of the underlying causes in capillary malformations.

Transient abdominal telangiectasia of the newborn: Four new cases with abdominal distension.

Transient abdominal telangiectasia of the newborn (TATN) is a recently described entity. The majority of cases had no specific clinical context or trigger identified, but a minority occurred in the clinical context of transient increased intraabdominal pressure. We report four additional cases of TATN, all in the presence of transient abdominal distension, further supporting the causative relationship of abdominal distension to TATN.

Acral manifestations associated with infection.

Acral lesions are well-known physical findings in various infectious disorders. Although they are often overlooked, they can be the key to the diagnosis of the underlying disease. Considering this, we present an overview of various infectious causes of acral lesions in childhood.

Pitfalls in the diagnosis and management of Kawasaki disease: An update for the pediatric dermatologist.

Kawasaki disease is easily diagnosed when it presents in its complete form, but because not all characteristic symptoms are always present at the same time, and the diagnosis of incomplete and atypical Kawasaki disease is often challenging, a delay in diagnosis or misdiagnosis often occurs. We present the diagnostic approach to Kawasaki disease with common pitfalls and explain how to avoid them. We also describe current practice and new trends in treatment.

Prolactin and colorectal cancer: is there a connection?

Unlabelled: The purpose of this study was to confirm the reported incidence of hyperprolactinemia in colorectal cancer and to find further evidence for an ectopic prolactin production by the tumor.

Material And Method: Thirty two consecutive patients with an adenocarcinoma of the colon (n = 17) or the rectum (n = 15) were included. Preoperative serum prolactin concentrations were determined and correlated with CEA concentrations and tumor stages.