Juvenile localized scleroderma with port wine stain: coincidental or possible common pathogenetic association.

Port wine stain and juvenile localized scleroderma are two different dermatoses usually encountered in pediatric age group. Up to now, there are reports of morphea patients initially diagnosed and treated as port wine stain. Coexistence of both diseases is not found yet. We herein present a case of juvenile localized scleroderma on the left side of trunk, with congenital port wine stain located on the ipsilateral face at V1-V2 distribution.

What was known?

Port wine stain (PWS) is a congenital vascular malformation with an unknown pathogenesis characterized by progressive ectasia of dermal capillaries.

Juvenile scleroderma is a fibrosing disease characterized by increased collagen deposition

Introduction

Port wine stain (PWS) and juvenile localized scleroderma are two different dermatoses usually encountered in pediatric age group. Juvenile scleroderma is a fibrosing disease of unknown pathogenesis, characterized with increased collagen deposition, and may result with permanent deformities. PWS is a congenital capillary malformation with pink to purplish telangiectatic macules. Lesions are usually present at birth and persistent. We herein present a case of juvenile localized scleroderma on the left side of trunk, with congenital PWS located on ipsilateral face at V1-V2 distribution. This coexistence has not been reported previously.

Case Report

A 21-year-old female patient was attended to our clinic for lesions which have started on anterior aspect of the left thigh 10 years before and new ones which have recently appeared on the left forearm and the lateral aspect of the left breast. The patient received various topical treatments, narrow-band UVB, hydroxychloroquine and dapsone previously with a diagnosis of morphea. She did not receive any treatment for 6 months and the breast lesions occurred during this time. On dermatological examination, erythematous-brown firm plaques on the anterior aspect of the left thigh, left forearm, medial aspect of the upper arm and lateral aspect of the left breast were observed [Figure 1a and b]. Furthermore she had congenital dark red telangiectatic macular plaques localized in ipsilateral V1 and V2 distribution on the face [Figure 2]. The punch biopsy from the new plaque on the breast was compatible with localized scleroderma [Figure 3], with dermal perivascular lymphomononuclear infiltration and focal sclerosis in subkutis and deep dermis. The lesion located on the face diagnosed as a PWS. Ophthalmologic and neurological examinations were normal. There was also no pathology in cranial computerized tomography scan and magnetic resonance imaging. On laboratory examination, complete blood count, urinalysis, renal and liver function tests were within the normal range and antinuclear antibodies (ANA) were positive at 1/400 titer. Further autoimmune panel were negative. Methotrexate treatment (15 mg/week) was started for progressive disease and she is still on follow ups.

Figure 1

Firm, erythematous-brown lesions on the left forearm (a) and thigh (b)

Figure 2

Dark red patches on V1-V2 distribution

Figure 3

Dermal perivascular lymphomonocytic infiltrate with dermal and subdermal sclerosis (H and E × 40)

Discussion

Localized scleroderma is a fibrosing disease that affects the skin and subcutaneous tissue. The incidence is 0.4-1 in 100.000, usually seen in white and women. When the onset of the lesions is before 16, it is called as juvenile. The pathogenesis is not well known, many factors may play role as genetic background, environmental factors, disturbance of the equilibrium between the collagen synthesis-degradation and microvascular injury. Trauma is thought to have a direct association in the etiopathogenesis especially in the children.[12]

PWS is a dermal capillary ectasia classified among the congenital vascular malformations. It is observed in 0.3% of the population and usually in the head and neck region. V1 localization is especially common with leptomeningeal and ocular anomalies.[3] In our case, both cranial radiological and opthalmologic examinations were normal. The pathogenesis of PWS is still an obscure. Acquired lesions are rarely observed besides the congenital ones. According to a hypothesis, vascular ectasias are a result of impaired vascular tonus due to loss of sympathic innervation.[4]

Vasculopathy and loss of sympathic innervation should be emphasized as mechanisms that may explain the coexistence of both diseases. Nail capillary structural anomalies and vasospastic changes in Raynaud's phenomenon give rise to a consideration that there are anomalies at vascular level in the pathogenesis of scleroderma. Complex neurohumoral mechanisms have a role in these vascular changes.[5] A nerve conduction study among the patients with morphea and scleroderma revealed deceleration in the nerve conduction pointing autonomic nerve system impairment.[6] On the other hand studies on pathogenesis of PWS, did not show any deformity in the vessel wall.[7] But, embryological developmental defects in sympathetic innervation lead to changes in vascular tonus which may be responsible for formation of PWS. Perivascular innervation in lesional skin is shown to decrease in the studies.[48] Besides, chromosome 5q allele responsible for neurogenesis is linked to multiple PWS cases, in genetic studies.[9] Mosaic genetic changes at this locus, with the aid of various triggers, may initiate the pathogenetic reaction chains. Of course this is just a hypothesis and coincidental existence of both diseases is also possible. In fact, genes related to scleroderma are still not well known despite the advanced technologies.

There are cases which are evaluated as acquired PWS and proved to be morpheic lesions on their follow up. In addition, there are cases recognized to be morphea after treatment with pulsed dye laser or intense pulsed light therapy for treatment of PWS.[10] After a search in the literature, we found no case reporting the coexistence of morphea and PWS. As vasculopathy and disturbance of innervation play important role in pathogenesis of both diseases, and the lesions are located ipsilaterally; the diseases are thought to be somehow related. But, further studies are required.

What is new?

The coexistence of PWS and localized scleroderma has not been reported previously

A possible common pathogenetic mechanism may exist