Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.

Segmental overgrowth syndromes include a group of clinical entities, all characterized by the abundant proliferation of tissues or organs in association with vascular abnormalities. These syndromes show a wide spectrum of severity ranging from limited involvement of only small areas of the body to complex cases with impressive distortions of multiple tissues and organs. It is now clear that somatic mutations in genes of the phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway (in brief "mTOR pathway") are responsible for such entities. Not all the cells of the body carry the same causative mutation, which is mosaic, appearing from two (or more) distinct cell lineages after fertilization. In this article, we reconsider the clinical spectrum and surveillance programs of patients with segmental overgrowth syndromes, based on the features of six patients with diverse clinical forms of overgrowth and pathogenic variants in genes of the mTOR pathway.

Sequelae following infantile haemangiomas treated with propranolol.

BACKGROUND: Oral propranolol accelerates the involution of infantile haemangiomas (IHs). However, it is not clear whether IHs treated with oral propranolol are associated with fewer sequelae than when left untreated. OBJECTIVES: To quantify and describe sequelae associated with IHs treated with oral propranolol, and to explore whether treated IHs are associated with fewer sequelae than untreated IHs. MATERIALS & METHODS: This multicentre, retrospective, cohort study included patients with IH treated with oral propranolol ≥2 mg/kg for at least six months, with photographic images available at baseline and at age 4-5 years. A historical comparison cohort comprised 185 patients with untreated IHs. Main outcomes/measures were: IH features, treatment characteristics and type/degree of sequelae. RESULTS: Oral propranolol, most commonly at 2 mg/kg/day (mean duration: nine months), was initiated in 171 patients (mean age: 6.02 months). After treatment, 125 of 171 (73.1%) IHs were associated with no/minimal sequelae. The most common sequelae were telangiectasia (78%), fibrofatty tissue (37%) and anetodermic skin (28%). Deep IHs were associated with significantly fewer sequelae than other subtypes. Ulceration appeared to increase the likelihood of severe sequelae. IHs with a stepped border was associated with more severe sequelae than those with a progressive border (44% versus 27%, p < 0.05). Treated IHs resolved without sequelae or were associated with a sequela that did not need correction in 27.7% more cases than untreated IHs (RR: 1.61; p < 0.001). CONCLUSION: Among IHs treated with oral propranolol, 73% resolved without, or were associated with minimal sequelae. Deep IHs were associated fewer sequelae than other subtypes. Oral propranolol decreased the likelihood of IH sequelae requiring correction.

Antibiotic susceptibility of Staphylococcus aureus isolated from skin lesions in children. A retrospective analysis from a tertiary care Italian pediatric hospital.

Antibiotic susceptibility of S. aureus was retrospectively assessed in 1833 strains isolated from skin lesions observed in an Italian tertiary care hospital. Methicillin resistance was more frequent in outpatients than in inpatients (18% vs. 14%, p = 0.04) as well as resistance to cotrimoxazole (8% vs. 4.1%, p < 0.001). Resistance to ampicillin was 99% in both groups, while for clindamycin it was 11% and 14%, respectively. Among topical antibiotics fusidic acid showed the better resistance profile (3%). Antibiotic resistance in pediatric skin infection in outpatients could represent a therapeutic problem in Italy.

Asymmetric cavernous sinus enlargement: a novel finding in Sturge-Weber syndrome.

PURPOSE: Enlargement of deep cerebral veins and choroid plexus engorgement are frequently reported in Sturge-Weber syndrome. We aim to describe cavernous sinus involvement in patients with this syndrome and to identify possible clinical-neuroimaging correlations. METHODS: Sixty patients with Sturge-Weber syndrome (31 females, mean age 4.5 years) and 120 age/sex-matched controls were included in this retrospective study. We performed a visual analysis to identify patients with asymmetric cavernous sinus enlargement. Then, we measured on axial T2WI the left (A), right (B), and bilateral (LL) transverse diameters of the cavernous sinus. We calculated the module of the difference |A-B| and the cavernous sinus asymmetry index as the ratio |A-B|/LL. Differences among groups were assessed by Mann-Whitney U and Kruskal-Wallis tests. Clinicoradiological associations were evaluated by Fisher exact test. RESULTS: We found seven subjects (11.6%) with asymmetric CS enlargement. The |A-B| and cavernous sinus asymmetry index were higher in patients with asymmetric CS enlargement compared with controls and patients without visible CS abnormalities (pB < 0.05). Asymmetric CS enlargement was always ipsilateral to facial port-wine stains (7/7), and, when present, to leptomeningeal vascular malformations (4/7). It was significantly associated with ipsilateral bone marrow changes (p = 0.013) and dilated veins (p = 0.002). Together with brain atrophy and deep venous dilatation, this sign was associated with neurological deficits (p < 0.05). CONCLUSIONS: We expanded the spectrum of venous abnormalities in SWS, showing the presence of asymmetric cavernous sinus enlargement in more than one tenth of patients, likely related to increased venous drainage.

Successful treatment of isolated subglottic haemangioma with propranolol alone.

Subglottic haemangioma is a rare but potentially life threatening condition which requires intervention. Many different treatments have been described with varying degrees of success and complications. Recently, successful treatment with propranolol has been reported in 11 cases of cutaneous haemangiomas and then in two cases of subglottic haemangiomas with extensive cutaneous lesions in conjunction with other treatment modalities. We describe the successful treatment with propranolol, of a stridulous four-month-old child with a 95% obstructing subglottic haemangioma. This was achieved without the need for tracheostomy or any other surgical intervention, and with no reported side effects. We now believe the new discovery of a dramatic response to propranolol allows treatment in the acute setting and following further study may render surgical treatment of subglottic haemangioma obsolete.