JDDG: Journal der Deutschen Dermatologischen Gesellschaft | 2019
A giant and atypical port‐wine stain with facial deformity
Abstract
Port wine stains (PWS) are congenital low-fl ow vascular malformations of dermal capillaries and postcapillary venules [ 1 ] . Many early treatments have been described that prevent progression to deforming stages. However, we present a remarkable and massive hypertrophic port-wine stain with facial deformity. Such malformations are normally located on the face and neck, although they can be found anywhere on the body. They typically appear in childhood as fl at pink patches that eventually progress due to vascular ectasia in up to 20 % of patients. In adulthood, they manifest as hypertrophied, violaceous, and in extraordinary cases, deforming lesions. A 62-year-old man was evaluated because of a vascular anomaly located on the left side of his face. This was characterized by erythematous macules, plaques, and nodules that deformed the facial appearance (Figure 1 ). The patient reported that the lesion began as an erythematous macule at birth with subsequent growth into the third decade of life, resulting in this abnormal appearance. During the last decade, he underwent many surgical procedures to remove the lesion, in addition to several sessions of embolization with polyvinyl alcohol, but without success. Histological examination revealed a capillary anomaly with vascular ectasia (Figure 2 ). Immunochemistry for GLUT-1 was negative, as were the results of a GNAQ mutation analysis. Angiography showed a vascular malformation with blood supply from the internal and external carotid arteries. Hypertrophic PWS was diagnosed and the patient was evaluated for defi ned extracutaneous syndromes, such as Sturge-Weber, but none of these were diagnosed. Due to the failure of previous treatment options and the poor prognosis of further surgery, the patient refused any further treatment. PWS appears during childhood as erythematous irregular patches that can progress with age to a generalized thicker patch with nodule formation and anatomical disruption. It is thought that ineffi cient tissue oxygenation secondary to vascular ectasia promotes the development of arteriovenous shunts to compensate for tissue ischemia, leading to hypertrophy of these malformations [ 2 ] . Port-wine stains are classifi ed as diffuse, nodular or mixed malformations. They may be associated with other cutaneous and extracutaneous manifestations, especially Sturge-Weber syndrome, in which patients develop seizures, glaucoma, abnormal cerebral vasculature and mental retardation [ 3 ] . Histopathology shows that the lesions are vascular anomalies with ectasia of the papillary dermal capillaries and postcapillary venules in the superfi cial dermis [ 4 ] . There is a direct histopathological correlation between age and the increase of the dermal vasculature, as in our patient [ 2 ] .