Clinician-to-Clinician Update Clinician-to-Clinician Update

Misdiagnosis of Complex Vascular Malformations

September 2015 - Dermatology

Contributed by Sheilagh Maguiness, MD, and Kristen Hook, MD

Infantile hemangiomas (IHs) are present in about 3% to 10% of infants.1 IHs follow a natural history comprised of 3 predictable stages: a rapidly proliferating stage (1-3 months), followed by stabilization in growth during mid-infancy, and then finally involution over years. After involution, IH may not leave normal skin behind, and fibrofatty residual masses can be a complication. Though many IHs can be managed through observation alone, some more complicated hemangiomas may require medical and/or surgical intervention.2 With the recent discovery of oral propranolol as a safe and effective treatment, our armamentarium of effective therapies has expanded for IH.

Unfortunately, the term “hemangioma” is often used to describe other vascular lesions.3 This can have serious consequences. In the case of venous and arterial malformations, a correct diagnosis is imperative as these lesions have very different potential complications and outcomes. In some cases of venous or arteriovenous malformations, its continuous progression can lead to soft tissue destruction, cosmetic deformity, bleeding, and pain.4

Here we describe 2 cases in which complex vascular malformations were initially diagnosed as IHs. Referred to the pediatric dermatology team at University of Minnesota Masonic Children’s Hospital, both patients required multidisciplinary care to appropriately manage their conditions.

Foot-lesions-patient-1 Pediatric-Consult-Sept-2015
— Figure 1. Foot lesions misdiagnosed as hemangiomas.

Patient 1

A 9-month-old boy was referred for treatment of multiple “hemangiomas” on the leg (Figure 1). Upon evaluation, these lesions were multifocal, compressible, and blue in color. The patient also had overgrowth of the affected leg. Further workup revealed an extensive, intramuscular venous malformation. Large venous malformations with muscular involvement can lead to localized intravascular coagulopathy, leg length discrepancy, and pain. Therefore, this complex case ultimately required management from numerous disciplines, including hematology, orthopedic surgery, and interventional radiology at the University of Minnesota Center for Pediatric Vascular Lesions.

Fig-2-peds-derm-Consult-9-15 crop
— Figure 2. Extensive erythematous vascular stain on the leg in the setting of CM-AVM syndrome.

Patient 2

A 10-month-old girl was referred for evaluation of a rash and a few pink birthmarks on the leg (Figure 2). These were suspected to be either hemangiomas or port wine stains. On examination, the patient had numerous pink patches with surrounding pale halos. The lesions had elevated blood flow on Doppler evaluation consistent with arteriovenous malformations (AVMs). Multiple AVMs are rare and are associated with an autosomal dominant genetic disorder called capillary malformation-arteriovenous malformation syndrome (CM-AVM).5 This patient required additional imaging to rule out any larger underlying AVMs of the affected leg or intracranial AVMs, and close follow-up will be needed. Her MRI of the lower extremity showed a large AVM consistent with Parkes Weber syndrome in the setting of CM-AVM. She will require interdisciplinary care in our Pediatric Vascular Lesions center and has also been referred to our Genetics Clinic for evaluation and genetic counseling.

References

1. Hoornweg MJ, Smeulders MJ, Ubbink DT, van der Horst CM. The prevalence and risk factors of infantile haemangiomas: a case-control study in the Dutch population. Paediatr Perinat Epidemiol. 2012;26:156-162

2. Chang LC, et al. Growth characteristics of infantile hemangiomas: implications for management. Pediatrics. 2008;122:360-367.

3. Chen TS, et al. Infantile hemangiomas: an update on pathogenesis and therapy. Pediatrics. 2013;131:99-108.

4. Nosher JL, et al. Vascular anomalies: A pictorial review of nomenclature, diagnosis and treatment. World J Radiol. 2014;6:677-692.

5. Weitz NA, Lauren CT, Behr GG, et al. Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study. Pediatr Dermatol. 2015;32:76-84.

Related Articles

September 2015 - Dermatology

Pediatric Specialties Update

University of Minnesota Health adds new locations for pediatric dermatology care. Learn more and find the latest news, research, and conference announcements.

Continue reading

September 2015 - Dermatology

From Simple to Complex: Diagnosing Skin Conditions in Children

The majority of pediatric skin complaints are common disorders. However, potentially serious complaints can superficially resemble common conditions that resolve spontaneously.

Continue reading