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E-IJD® - CORRESPONDENCE
Year : 2022  |  Volume : 67  |  Issue : 4  |  Page : 481
Lobular capillary haemangioma occurring over port-wine stain in a patient of sturge-weber syndrome: A case report


From the Department of DVL, Madras Medical College, Chennai, Tamil Nadu, India

Date of Web Publication2-Nov-2022

Correspondence Address:
P Deepavarshini
From the Department of DVL, Madras Medical College, Chennai, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijd.ijd_78_21

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How to cite this article:
Ramesh A, Sampath V, Kannan R, Daniel SJ, Ajith Kumar L B, Deepavarshini P. Lobular capillary haemangioma occurring over port-wine stain in a patient of sturge-weber syndrome: A case report. Indian J Dermatol 2022;67:481

How to cite this URL:
Ramesh A, Sampath V, Kannan R, Daniel SJ, Ajith Kumar L B, Deepavarshini P. Lobular capillary haemangioma occurring over port-wine stain in a patient of sturge-weber syndrome: A case report. Indian J Dermatol [serial online] 2022 [cited 2022 Dec 8];67:481. Available from: https://www.e-ijd.org/text.asp?2022/67/4/481/360354




Sir,

Sturge-Weber syndrome or encephalofacial angiomatosis is a congenital, non-hereditary, neurocutaneous syndrome characterized by facial port-wine stain, ipsilateral leptomeningeal angiomatosis, glaucoma, seizures, stroke and intellectual disability.[1] It is caused due to a sporadic activating mutation in Guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) gene resulting in residual embryonic blood vessels.[1] The Roach scale is used for classification of Sturge-Weber syndrome[2]: type I: Facial and leptomeningeal angiomas, may have glaucoma, type II: Facial angioma without evidence of intracranial angioma, may have glaucoma, type III: Isolated leptomeningeal angioma, usually no glaucoma.

We report a case of Roach's type II variant of Sturge-Weber syndrome who presented with pyogenic granuloma (PG) over port-wine stain over temple region of scalp.

A 44-year-old male, painter by occupation came with complaints of raised skin lesion in front of and above his right ear, associated with episodes of bleeding for duration of 1 month. The patient had history of reddish discolouration over his right side of face, right side of neck and right shoulder from birth, over which the raised skin lesion has occurred. There was no history of predisposing factors for the lesion. On dermatological examination, there was a diffuse erythematous patch over the right side of face extending from the scalp to the right shoulder and upper chest, not crossing the midline [Figure 1]. There were multiple dark brown soft, sessile and pedunculated papules and nodules with variable surface and of size ranging from 0.1 × 0.1 cm to 0.8 × 0.5 cm, distributed diffusely all over the patch [Figure 1]. His lower lip was diffusely swollen. A single 1.5 × 1 cm dark red, dome shaped, sessile nodule with rough and irregular surface was present over the erythematous patch on right temple region of scalp [Figure 2]. Since patient had history of bleeding from the lesion, palpation of nodule was not done. Clinical differential diagnosis of PG and nodule over port wine stain was made based on history of bleeding tendency and morphology of lesion. Routine blood investigations were normal. Intraocular pressure was normal. MR Venogram brain showed hypoplastic right transverse sinus and sigmoid sinus. CT Angiogram features were intracranial and extracranial agenesis of right internal jugular vein with hypoplastic foramen. We proceeded with excision biopsy of the nodular lesion. Histopathological examination [[Figure 3], Hematoxylin and Eosin stain, 40x] showed hyperplastic epithelium and superficial and middle dermis with numerous vascular channels of varying calibre ranging from small dilated capillaries lined by single layer of endothelial cells to large cavernous vessels in background of fibro collagenous stroma and inflammatory cells. Histopathology confirmed the diagnosis of lobular capillary hemangioma within port-wine stain. Histopathology of nodule from port-wine stain usually shows well-circumscribed proliferation of thin and thick-walled blood vessels lined by single layer of endothelial cells and admixed with capillaries.[3]
Figure 1: Diffuse erythematous patch over the right side of face extending from the scalp to the right shoulder and upper chest. Multiple soft nodules are present over the port-wine stain

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Figure 2: A single 1.5 × 1 cm dark red, dome shaped, sessile nodule with rough and irregular surface present over the erythematous patch on right temple region of scalp (marked with red arrow)

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Figure 3: Numerous vascular channels of varying calibre ranging from small dilated capillaries lined by single layer of endothelial cells to large cavernous vessels in background of dense fibro collagenous stroma. (H and E stain, 40x magnification)

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The characteristic cutaneous manifestation of Sturge-Weber syndrome is port-wine stain or nevus flammeus along the sensory branches of trigeminal nerve. Port-wine stain is a congenital, low-flow vascular malformation of the skin that represents ectasia of superficial cutaneous vascular plexus. Over the years, progressive ectasia leads to gradual darkening of the lesion, development of nodularity, thickening and cobblestone pattern. PG or lobular capillary hemangioma is an acquired vascular proliferative tumour. It is known to occur after preceding minor trauma. In cases of PG secondarily arising over nevus flammeus lesion, Groesser et al.[4] observed mutations in B – Raf protein (BRAF) , Neuroblastoma Ras viral oncogene (NRAS) (neuroblastoma RAS viral oncogene homolog) and GNAQ (G Protein Subunit Alpha Q) genes in both the lesions, indicating their common origin. Also, mutations in GNAQ, EphB4, RASA1, Tie2 and co-expression of EphB1/EfnB2 lead to activation of MAPK. Mutation in PIK3CA activates mTOR pathway and overexpression of vascular growth factors activates MAPK and mTOR pathways. Thus, all these factors together cause aberrant activation of MAPK and PI3K signalling pathways resulting in cell proliferation and vascular permeability.[5]

Lobular capillary hemangioma arising over port-wine stain has been reported in the setting of pregnancy,[6] after LASER treatment[7] and also spontaneously in patients without any comorbidities. Such studies have hypothesized that this association is due to microscopic arteriovenous anastomosis.[8] Chemical mediators like inducible nitric oxide synthase have also been implicated.[9]

Lobular capillary hemangioma arising over port-wine stain in a Sturge-Weber patient has been documented but PG is an under-reported event in the background of known and common complications of port-wine stain like hypertrophy and nodule formation. To the best of our knowledge, 36 cases of PG over port-wine stain have been reported so far, out of which only four cases are from India. Only 16 cases had lesions over trigeminal nerve distribution. Most of these lesions are located outside trigeminal nerve like neck, trunk and extremities.[10]

It is noteworthy to mention that, in addition to the PG lesion, this patient had multiple, benign, soft, small and painless papules and nodules over the nevus flammeus patch in the trigeminal nerve distribution which is also a rare association.[9] The pronounced superficial arterio-venous malformation or 'arteriovenous hemangioma' is an important feature for the development of nodularity within port-wine stain.[3]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, et al. Sturge–Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013;368:1971-9.  Back to cited text no. 1
    
2.
Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am 1992;39:591-620.  Back to cited text no. 2
    
3.
Chen D, Hu X, Lin X, Ma G, jin Y, Chen H, et al. Nodules arising within port-wine stains: A clinicopathologic study of 31 cases. Am J Dermatopathol 2011;33:144-51.  Back to cited text no. 3
    
4.
Groesser L, Peterhof E, Evert M, Landthaler M, Berneburg M, Hafner C. BRAF and RAS mutations in sporadic and secondary pyogenic granuloma. J Invest Dermatol 2016;136:481-6.  Back to cited text no. 4
    
5.
Nguyen V, Hochman M, Mihm MC, Nelson JS, Tan W. The pathogenesis of port wine stain and Sturge Weber syndrome: Complex interactions between genetic alterations and aberrant MAPK and PI3K activation. Int J Mol Sci 2019;20:E2243.  Back to cited text no. 5
    
6.
Katta R, Bickle K, Hwang L. Pyogenic granuloma arising in port-wine stain during pregnancy. Br J Dermatol 2001;144:644-5.  Back to cited text no. 6
    
7.
Lanigan SW. Pyogenic granulomas, port-wine stains and laser treatment. Dermatology 1995;191:78-8.  Back to cited text no. 7
    
8.
Swerlick RA, Cooper PH. Pyogenic granuloma (lobular capillary hemangioma) within port-wine stains. J Am Acad Dermatol 1983;8:627-30.  Back to cited text no. 8
    
9.
Sheehan DJ, Lesher JL. Pyogenic granuloma arising within a port-wine stain. Cutis 2004;73:175-80.  Back to cited text no. 9
    
10.
Indian Journal of Dermatology, Venereology and Leprology-Recurrent pyogenic granuloma over nevus flammeus. Indian J Dermatol Venereol Leprol 2019. Available from: https://ijdvl.com/recurrent-pyogenic-granuloma-over-nevus-flammeus/. [Last accessed on 2021 Sep 23].  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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