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The vanishing port-wine stain birthmark—consideration for a rare type of congenital vascular anomaly
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The vanishing port-wine stain birthmark—consideration for a rare type of congenital vascular anomaly
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The vanishing port-wine stain birthmark—consideration for a rare type of congenital vascular anomaly
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Journal Article
The vanishing port-wine stain birthmark—consideration for a rare type of congenital vascular anomaly
2022
Overview
Capillary malformations (MCs), also referred to as port-wine stains (PWSs), or port-wine birthmarks (PWBs) represent one of the most common congenital vascular birthmarks. They consist of ectatic postcapillary venules within the papillary and superficial reticular dermis. The pathogenesis is due to a somatic activating mutation in guanine nucleotide–binding protein G(q) subunit alpha which mosaically occurs in endothelial cells (ECs) during embryogenesis. As a true congenital vascular malformation, PWSs are always present at birth, appearing as a flat pink to red macula mostly arising in the head and neck unilaterally. Although lightening during the first few months of life is possible, these lesions generally stay stable or thicken and darken over time. Consequent functional impairment, tissue thickening, development of blebs, and psychological burden may be relevant, so early laser therapy should often be considered to deter progression. What we present here is a unique cohort of 10 children presented to the Vascular Birthmarks Foundation (VBF) in Latham, NY, between 2016 and 2021, who were followed over time for cutaneous vascular anomalies present at birth. The clinical features were strongly suggestive of PWSs. However, all 10 of these children showed a significant spontaneous regression of the lesions during the observational period. In four cases, there was complete resolution. According to the international literature, capillary malformations persist throughout life and typically grow and darken if early laser treatment is not initiated. Such spontaneous improvement is extremely rare after the first 6 months of life. In the present case series, we photographically documented this previously unreported circumstance.
Level of evidence: Level V, risk/prognostic study.
