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.

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.

Care for children with severe chronic skin diseases.

In this study, the care for children with a severe chronic skin disease in our national expert center of pediatric dermatology was evaluated. Patients and their parents were questioned by using existing questionnaires: 50 pediatric patients completed the modified "my positive health" questionnaire of Huber and 51 parents completed Pelentsov parental needs scale. Nineteen involved professionals answered a questionnaire with open boxes.

Mastocytosis: a comprehensive insight.

Mastocytosis refers to a heterogeneous group of clinical disorders characterized by an abnormal accumulation of mast cells (MCs) in various tissues. The skin is the organ most frequently involved, but all organs may be affected. The clinical signs and symptoms are produced by the functional effects of mast cell-derived mediators and the anatomical distribution of the mast cells.