Faculty Bibliography

BACKGROUND: Scalp infantile hemangiomas (IHs) are usually focal lesions that can be both disfiguring and may lead to complications such as ulceration and bleeding. The clinical features of scalp IHs have not been previously studied. This study aims to identify the clinical characteristics associated with scalp IH, the indications for surgical intervention, and results of surgical treatment. METHODS: We performed a retrospective chart review of patients with scalp IH presenting to a tertiary care referral center over the past 7 years. Patients' demographics, clinical features, location, and treatment course were noted. RESULTS: One hundred fifty-one of 1916 total IH patients presented with a diagnosis of scalp IH (8%). The distribution of the scalp lesions was the following: 31.8% frontal, 46.7% parietal, 7.9% occipital, and 9.9% temporal. Fifty-eight percent were solitary and 42% were multifocal lesions. The size range of scalp IH is 1 x 1 cm to 8 x 6 cm. Two percent of patients with scalp IH presented with other facial IH. Primary indications for surgery were secondary to complications such as ulceration (23.2%) and alopecia (51.7%). Surgery included elliptical excision with primary closure (85.7%) or with rotational flap closure (14.3%). The average age of surgery was 3 years (1-8 years). Most patients had a good aesthetic outcome with satisfactory hair growth. CONCLUSION: Scalp IHs are morbid tumors which often cause alopecia and/or ulceration. In our experience, many scalp IHs eventually require surgical intervention. We find that early surgical excision is beneficial, as the tissues are easily manipulated secondary to scalp/soft tissue laxity and scarring is more favorable.

Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations.

There is no uniform pretreatment cardiac evaluation for infants treated with oral propranolol, which is now the drug of choice for hemangiomas of infancy requiring systemic medical intervention. The aim of this study was to report and evaluate the findings of pretreatment cardiac evaluation. Data were reviewed for patients evaluated by a single hemangioma specialist and a single pediatric cardiologist prior to initiation of propranolol for infantile hemangioma. Cardiac evaluation included a complete echocardiogram. From July 2009 through January 2013, 239 consecutive patients 12 months of age or younger (median 2.7 months) were screened. No patients had cardiac contraindications to propranolol. However, 50 patients (21%) had an abnormal echocardiogram: 39 atrial septal defects (5 associated with right heart enlargement), 6 ventricular septal defects, 2 patent ductus arteriosus, 1 aortic coarctation, 1 pulmonary valve stenosis, and 1 aberrant subclavian artery. Overall, 69 patients had an audible heart murmur, 44 of which were not associated with pathologic findings on echocardiogram. All patients with a ventricular septal defect and 16 of 39 with an atrial septal defect had a murmur. Two of seven patients with PHACE syndrome had cardiac anomalies. None of the findings precluded the use of propranolol. Assisted reproductive technologies were used in 18% of pregnancies, including in vitro fertilization in 12%. Cardiac contraindications to propranolol treatment are uncommon in patients with infantile hemangioma. However, anatomic abnormalities were more common than reported in the general population. Further study is necessary to determine whether there is a pathogenic relationship between cardiac defects and nonsyndromic infantile hemangioma.