Infantile hemangioma. Part 2: Management.

The majority of infantile hemangiomas (IH) can be managed conservatively, but for those requiring active treatment, management has been revolutionized in the last decade by the discovery of propranolol. Patients that may require active intervention should receive specialist review, ideally before 5 weeks of age to mitigate the risk of sequelae. Propranolol can commence for most infants in the outpatient setting and the most frequently employed dosing regimen is 1 mg/kg twice daily. In the future, ß-blockers with a more-selective mechanism of action, such as atenolol, show some promise. In recalcitrant lesions, systemic corticosteroids or sirolimus may be considered. For small, superficial IHs, topical timolol maleate or pulsed dye laser may be considered. Where the IH involutes with cutaneous sequelae, a range of interventions have been reported, including surgery, laser, and embolization. IHs have a well-described clinical trajectory and are readily diagnosed and managed via telemedicine. Algorithms have been constructed to stratify those patients who can be managed remotely from those who warrant in-person review during the COVID-19 pandemic.

Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment.

Infantile hemangioma (IH) is the most common pediatric vascular tumor. Its pathogenesis is poorly understood but thought to represent an aberrant response of pluripotent stem cells to stimuli such as hypoxia and the renin-angiotensin system. IH usually appears during the first few weeks of life and follows a characteristic natural trajectory of proliferation and involution. Their clinical appearance depends on their depth and distribution. Classification comprises superficial, mixed, and deep IH as well as IH with minimal or arrested growth. Multifocal IHs are more likely to be associated with infantile hepatic hemangioma and, although the need for screening based on a specific number of IH has been recently debated, 5 remains the most widely acceptable cutoff point. Large facial IHs warrant investigation for posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects or aortic coarctation and eye anomalies (PHACE) syndrome. Lumbar IHs warrant investigation for lower body IH and other cutaneous defects, urogenital anomalies, ulceration, myelopathy, bony deformity, anorectal malformations, arterial anomalies, and renal anomalies (LUMBAR) syndrome. Complications of IH include ulceration, obstruction or functional impairment, hypothyroidism, and cosmetic sequelae. Differential diagnoses mostly consist of other vascular tumors and vascular malformations, although IH may sometimes mimic nonvascular tumors or developmental anomalies. Diagnosis is usually clinical and biopsy is rarely indicated. High-frequency ultrasonography may help with the differential diagnosis, particularly with subcutaneous lesions. Referral to other specialists may be required in specific cases.

Papillon-Lefèvre syndrome treated with acitretin.

A 7-year-old boy born to consanguineous parents had suffered from palmoplantar keratoderma and chronic gingivitis since the age of 3 months. He was diagnosed with Papillon-Lefèvre syndrome. Genetic testing confirmed that he was homozygous with a point mutation in exon 6 of the cathepsin C gene. One year after initiating treatment with acitretin 10 mg oral daily and trimethoprim-sulfamethoxazole, the patient's skin remains almost lesion-free, and he has new teeth that erupted during treatment and are free of periodontal disease.