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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

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Background. Vascular malformations are a complex pathology with few treatment options. In previously published studies, oral sirolimus (rapamycin) has shown promising results in the treatment of low-flow vascular malformations, but its usefulness in high-flow vascular malformations is controversial. Aim. To evaluate the efficacy and safety of sirolimus for the treatment of high-flow vascular malformations in real-life practice. Methods. In a unit specializing in vascular anomalies, patients treated with oral sirolimus for high-flow vascular malformations were located by consulting the drug dispensations. Reviewing the electronic medical records, data on patient demographics, vascular malformation characteristics, treatments, toxicity and clinical course were collected and statistically analysed. Results. Nine patients with vascular malformations were included: eight had arteriovenous malformation and one had arteriovenous fistula. Six of these malformations were isolated while three were part of a syndrome. Sirolimus was initiated at a dosage of 1-4 mg/day to be taken as a single dose. Partial response was observed in eight of the nine patients (88.9%) with high-flow vascular malformation, while worsening was observed in the remaining patient. The treatment was well tolerated and at the most recent follow-up, five patients remained on treatment with oral sirolimus. Conclusion. Our results show that oral sirolimus is a well-tolerated therapeutic option, with an excellent safety profile, which can be useful in the long-term stabilization of patients with high-flow vascular malformations. Single-daily dosage may improve long-term adherence to treatment without worsening its effectiveness.

zwei neue Fälle mit einer neuartigen Missense-Mutation Ectodermal dysplasia-skin fragility syndrome: two new cases with a novel missense mutation Sehr geehrte Herausgeber, Desmosomale Genodermatosen sind eine heterogene Gruppe von Erbkrankheiten, die durch defekte desmosomale Komponenten verursacht werden. Das ektodermale Dysplasie-Hautfragilitäts-Syndrom (ectodermal dysplasia-skin fragility syndrome, ED-SF-Syndrom) ist eine seltene, autosomal rezessive Erkrankung, die durch Mutationen im PKP1-Gen, das für Plakophilin 1 kodiert, verursacht wird [1].Wir stellen die Fälle zweier Töchter aus blutsverwandter Abstammung zweiten Grades mit klinischen Zeichen von Hautfragilität seit ihrer Geburt vor. Sie hatten drei gesunde Brüder. Sie wurden mit Cheilitis, perioralen Rissen, Fissuren an Händen und Hautfalten, Bläschen und disseminierten Erosionen, verdickten und dystrophischen Finger-und Zehennägeln sowie wolligem und leicht spärlichem Haar auf Kopfhaut, Augenbrauen und Wimpern in unsere dermatologische Ambulanz überwiesen (Abbildung 1a-d). Die Schleimhäute waren nicht beteiligt.