Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.

RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients.

Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.

PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.

Skin sonography in children: a review.

Skin lesions are not uncommon in children, and most of them are benign. However, they can be a matter of concern. Although in most cases the diagnosis can be suspected based on clinical history and physical examination, in some cases clinical findings are nonspecific.

Skin Manifestations in Pediatric Patients Treated With a TNF-Alpha Inhibitor for Inflammatory Bowel Disease: A Retrospective Study [Formula: see text].

Background: Tumor necrosis factor (TNF) alpha inhibitors (anti-TNF) are effective in the treatment of inflammatory bowel disease (IBD) as well as psoriasis. Their increasing use has raised the identification of cutaneous side effects (CSEs). Evidence in children is limited.

Multifocal congenital hemangioma: Expanding the pathogenesis of "neonatal hemangiomatosis".

Congenital hemangiomas are benign vascular tumors, categorized by their postnatal behavior as rapidly involuting, non-involuting, or partially involuting. They are typically solitary, with a predilection for the head or limbs near a joint. We present two infants with small, multifocal congenital nonprogressive hemangiomas of the skin, one associated with hepatic and intracranial lesions, and another with an in utero intracranial hemorrhage and hydrocephalus.

Natural history of PHACE syndrome: A survey of adults with PHACE.

Background: Awareness of PHACE syndrome has increased; however, little information exists regarding its natural history, especially in patients over the age of 18. We aim to describe the natural history of PHACE to enhance clinical management and counseling of patients.

Methods: A cohort of patients ≥ 18 years was identified through the PHACE Syndrome Registry and a Vascular Anomalies Clinic Database.

[Tattooing and piercing in teenagers].

The presence of mutilations in the form of tattooing and body piercing is becoming increasingly common in adolescents, a practice that is not free of risk. Reported complications include local infections, bleeding, tearing, hypersensitivity reactions, transfusion-transmitted diseases (hepatitis B virus, hepatitis C virus, HIV, syphilis), Chagas' disease and infective endocarditis. On the other hand, several studies have demonstrated an association between body modifications and high-risk behavior in adolescents, as alcohol or drug abuse, cigarette smoking, violence and schooling problems.