Yu Qiu, Xiao-Fang Zeng, Zhi-Xin Zhao, Wen-Zhong Xiang?

1The Fourth Clinical College of Zhejiang Chinese Medical University, Hangzhou, Zhejiang 310053, China. 2Department of Radiology, 3Department of Dermatology, Third Hospital of Hangzhou, Hangzhou, Zhejiang 310009, China.

Introduction

Port wine stain (PWS) is a congenital cutaneous capillary malformation that typically presents on the face and neck,with an incidence of 0.3%-0.5%in newborns,and has no sex predominance. These lesions initially present as pink birthmarks with clear but irregular boundary,and the area varies greatly.If left untreated,they can progress in color to dark red or purple,and expand or regress over time.In severe cases, the lesion can generate hypertrophy and nodules, posing a great cosmetic challenge. One study illustrated that the average length of time to develop hypertrophy is 12 years,whereas it takes around 39 years for nodules to develop.1

Pulsed-dye laser (PDL) is the gold standard for treating PWS patients,but the main modality of choice at present is hemoporfin photodynamic therapy (PDT).2According to a retrospective study of pediatric patients(aged 3-10 years old), the treatment effect of PDT is significantly higher than that of the PDL (25.0%vs.10.9%), and the incidences of pigmentation and scar formation of PDT are lower than PDL(8.3%vs.21.1%).3Propranolol has also become widely accepted for early treatment in infants,although it would not always work well.4

PWS has a favorable prognosis with early diagnosis and treatment, but clinically, increasing cases of PWS with significant hypertrophy are being observed partly because of financial issues.And children born with PWS,especially on the face and neck, were reported to experience high levels of anxiety and depression.5-6So we here report the PWS case with a very negative cosmetic consequence, to remind the clinician to pay more attention to such a condition.

Case report

A 61-year-old man presented to Third Hospital of Hangzhou for treatment of a large PWS on the left side of his face. The PWS covered his forehead, cheek, chin,nose,and lips,but no oral or nasal mucosa were involved.Over time,this lesion had gradually turned purple in color and thickened.However,he did not receive any treatment,even when the lesion grew nodules while the patient was in his 40s (Fig. 1A-1C). Around 2016, the patient suddenly noticed that the nodules on his lips had become too big for him to open mouth for consuming food(Fig.1D and 1E).He then came to our clinic for treatment.

The results of routine head scan by MRI revealed largescale hypertrophy of the upper soft tissue spanning most of the left region of the patient’s face (Fig. 2A and 2B).Mandibular alveolar bone invasion and vascular thickness were seen by MRI enhanced head scan (Fig. 2C and 2D),with no involvement of the zygoma arch or orbital bone(Fig. 2A and 2D).

After diagnosis, we recommended surgical treatment followed by hemoporfin photodynamic or pulsed dye laser to the patient, but the patient refused due to financial constraints.

Discussion

PWS is a very common vascular malformation, mainly causes cosmetic problems for most patients and is not fatal;however,the one reported here is rarely seen in the clinic,because the patient lacked the initiative to get it treated.Additionally, when the patient was young, the currently used laser treatments for PWS were not available.Because his condition remained untreated, the capillaries in his dermis dilated with age, causing irreversible hypertrophy and nodules.Capillaries near the PWS thickened and grew into the alveolar bone to support the growing nodules on his chin and lip,restricting the patient’s ability to open his mouth. It is difficult to distinguish between benign and malignant tissues in the mandibular alveolar bone by only an MRI;however,the patient refused to undergo a biopsy.

Figure 1. PWS progression.(A-C)Images showing the progression of the patient’s PWS.The patient was born with a large PWS covering a region spanning most of the left side of his face(A).Over time,the left corner of mouth had gone awry(B),and the lesion had thickened(C).(D and E) The patient presented with big nodules on the left side of his face, especially on the lips, and suffered from restricted mouth opening.

The mechanism by which nodules form from PWS remains largely unknown. One report found that PKCα and PI3K signaling pathways contributed to the development of hypertrophy and nodularity.7

Theincreasein skin thicknessandscatteringthat occursin PWS with age supports the application of early treatment in infancy.PWS is typically first treated with propranolol,but this does not always work.High-energy PDL was proven to be a safe and highly promising method for the treatment of PWS in infants.8Adults treated with PDL had a high response rate,but the clearance rate was very low;thus,a combination of PDL and PDT may be a better method for patients with both nodules and hypertrophy.9In a case as severe as the one reported here, surgical operations are recommended first,followed by application of PDT or PDL if necessary; however, the patient did not accept any treatment because of financial issues.

Cases of PWS that were never treated, experienced delays in treatment,or received an insufficient quantity of therapy have been observed, and all suffered varying degrees of soft tissue nodules and bone hypertrophy due to their insufficient treatment. For such patients, they received serious physical and psychosomatic injuries,which could be avoided by early and sufficient treatment.

Figure 2. MRI imaging of the patient.(A and B)A routine head scan showing large-scale swelling of the upper soft tissue on most of the left region of the patient’s face. (C and D) An enhanced head scan showing bone hypertrophy, mandibular alveolar bone invasion, and vascular thickness.

In conclusion,we reported an adult PWS with significant nodules and alveolar bone invasion leading to restricted mouth opening, which is rare presented currently. Early treatment is recommended to patients born with PWS in order to avoid repeated hypertrophy and nodules that pose a significant threat to both physical and psychological health.