Atypical presentations of congenital hemangiomas: Extending the clinical phenotype

Pediatr Dermatol. 2019 Nov;36(6):835-842. doi: 10.1111/pde.13930. Epub 2019 Oct 2.

Abstract

Background/objectives: Congenital hemangiomas (CH) are a group of benign vascular tumors that are present at birth and exhibit variable involution during infancy. Congenital hemangiomas that do not involute are typically solitary patch or plaque-type tumors that grow proportionally with somatic growth. We report a case series of 9 patients with persistent CH, which exhibited uncommon features including segmental involvement, recurrent or severe pain, or growth via volumetric increase in size or apparent increased extent of anatomic involvement over time.

Methods: Via retrospective chart review, we included patients with persistent CH and atypical presentations. Available data regarding clinical characteristics, natural history, histopathology, imaging, and genetic tests were collected.

Results: Data on 9 patients were collected, including 7 noninvoluting CH and 2 partially involuting CH. Three of the 9 cases had segmental distribution, 6 had apparent growth or clinical evolution, and 4 were symptomatic with pain. One also had marked localized intravascular coagulopathy.

Conclusions: Ongoing or recurrent pain and large extent of anatomic involvement can be features of CH, albeit uncommon ones, and can pose both diagnostic and management challenges. Tissue genomic studies can offer a novel tool for CH diagnosis.

Keywords: genetic diseases; hemangiomas; mechanisms; vascular malformation; vascular tumors.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Diagnostic Imaging
  • Female
  • Hemangioma / congenital*
  • Hemangioma / diagnosis
  • Hemangioma / therapy
  • Humans
  • Infant
  • Male
  • Pain Measurement
  • Phenotype
  • Retrospective Studies
  • Skin Neoplasms / congenital*
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / therapy
  • Vascular Neoplasms / congenital*
  • Vascular Neoplasms / diagnosis
  • Vascular Neoplasms / therapy