Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Background: Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients' genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort (n = 143) was composed of unrelated patients suffering from a common lymphatic malformation (LM), a combined lymphatic malformation [lymphatico-venous malformation (LVM), capillaro-lymphatic malformation (CLM), capillaro-lymphatico-venous malformation (CLVM)], or a syndrome [CLVM with hypertrophy (Klippel-Trenaunay-Weber syndrome, KTS), congenital lipomatous overgrowth-vascular malformations-epidermal nevi -syndrome (CLOVES), unclassified PIK3CA-related overgrowth syndrome (PROS) or unclassified vascular (lymphatic) anomaly syndrome (UVA)].

Quality of life and clinical results after endovascular sclerotherapy: A comparison between intra- and extramuscular low-flow venous malformations.

Background: Based on clinical observations we hypothesized that patients with intramuscular venous malformations (VMs) did worse or needed more sclerotherapy sessions than patients with extramuscular VMs.

Purpose: To evaluate the difference in treatment and quality of life (QOL) results after Polidocanol sclerotherapy of intra- and extramuscular low-flow VMs.

Material And Methods: Forty-one patients with a VM were treated with Polidocanol in two university hospitals.

Quality of life after endovascular sclerotherapy of low-flow venous malformations: the efficacy of polidocanol compared with ethanol.

Background Limited information is available on mid-term results and quality of life (QOL) after endovascular sclerotherapy of venous malformations. Purpose To compare two agents-polidocanol and ethanol-with a focus on the influence on QOL after sclerotherapy. Material and Methods Forty-one consecutive patients with a venous malformation in the head and neck area or in the extremities were treated with polidocanol between 2008 and 2013.

Unilateral common cavity deformity: Recurrent meningitis due to insufficient newborn hearing screening.

Insufficient newborn hearing screening may leave the other ear with undetected hearing loss. Subsequently, the missed pathology behind the impairment may have potential risk for severe infections. We describe a case of recurrent Streptococcus pneumoniae meningitis in an infant with unilateral common cavity deformity.

[Tongue abscess].

Tongue abscess is a rare and sometimes life-threatening condition, as swelling of the tongue may rapidly occlude the airways. In a patient described by us swelling of the tongue was found in MR imaging to be caused by an abscess of the anterior part of the tongue, extending to the floor of the mouth, beside the submandibular gland. It was only after recanalization of the compartmentalized abscess of the tongue and removal of the salivary gland that the patient recovered.

[Chronic sclerosing sialadenitis - Küttner tumor].

Chronic sclerosing sialadenitis i.e. Küttner tumor is a rare inflammatory disease most commonly affecting the submandibular gland, due to clinical findings easily interpreted even as a malignant tumor.

Efficacy of OK-432 sclerotherapy in treatment of lymphatic malformations: long-term follow-up results.

Lymphatic malformations (LMs) are rare congenital tumors of the lymphatic system often affecting the head and neck area. Because of cosmetic and functional symptoms most patients need to be treated. Traditionally surgical treatment has been considered to be the first-line treatment for LM.