Unilateral and segmental distribution of facial erythema: is it a real port-wine stain?

Abstract

Capillary malformation-arteriovenous malformations (CM-AVMs) caused by a RASA-1 or EPHB4 mutation are characterized as hereditary sporadic or multifocal capillary malformations (CMs), associated with potential fast-flow vascular anomalies underlying erythema lesions. Because of the similar phenotype, CM-AVMs should be considered in the differential diagnosis of isolated CMs as well as other disorders with an erythema phenotype, such as hereditary hemorrhagic telangiectasia (HHT). Herein, we report a male patient with facial erythema. Red lesions were located in the V1 region of his left face, the V2 and V3 regions on his right side, and the nasal back. The patient was initially thought to have PWSs because of the unilateral and segmental distribution of his red facial lesions. In contrast to a previous diagnosis, we diagnosed the child with capillary malformation-arteriovenous malformation type 2 (CM-AVM2) based on a family history of erythema, the results of physical examination and ultrasound raising potential fast-flow lesions, and a genetic study revealing a germline EPHB4 mutation. This study emphasizes the importance of differential diagnosis for PWS and CM-AVM. A single clinical diagnosis can be limited, and molecular diagnosis is recommended to provide more information for the evaluation of the potential risk of fast-flow lesions underlying erythema lesions if necessary.

Ethanol Embolotherapy for Cutaneous Erythema of High-Flow Vascular Malformations in the Head and Neck

“…Cutaneous redness or erythema can be seen in many vascular anomalies, such as port-wine stains, hereditary hemorrhagic telangiectasia, and arteriovenous malformations. 23 It is also one of the most common clinical symptoms among AVMs patients. 1 In previous studies, 83% to 100% of the patients have been reported with skin redness.…”

Unilateral segmental presentation and a novel EPHB4 gene variant in capillary malformation–arteriovenous malformation type 2

“…1,2 Although they are most often distributed randomly across the body, occasionally, these malformations can be limited to specific areas such as the face. 3 CM-AVM type 2 can also be associated with AVM or fistulas (seen in 18% of patients), typically in the skin, muscle, bone, brain, or spinal cord. Sometimes, the Parkes-Weber syndrome phenotype is seen, with multiple arteriovenous fistulas leading to soft-tissue and skeletal hypertrophy of the affected limb.…”

Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review

“…Doppler pulsation can be found even in minor CMs and is explained by an arterial component in the CMs ( 14 , 15 ). As a consequence a higher skin temperature or thrill in the affected area can be observed ( 10 ). Fast-flow malformations, such as AVMs/ AVFs, can be present in different sizes and locations.…”

“…The most relevant differential diagnoses to CM-AVM2 are CM-AVM1, HHT, Sturge-Weber syndrome (SWS) and Klippel-Trenaunay syndrome (KTS) ( 10 , 11 , 17 , 18 ).…”

“…Both conditions present with cutaneous CMs that can be associated with the presence of 1 or more AVMs/AVFs. The CMs are described as macular, possible multifocal, light red, red or violet lesions varying in size typically from 1 to 3 cm in diameter (1)(2)(3)(8)(9)(10)(11). Larger lesions can occur, and CMs up to 15 cm in diameter have been described (8).…”