Basal cell carcinoma arising within port‐wine stain

Marangi, Giovanni Francesco; Segreto, Francesco; Alessandri‐Bonetti, Mario; Coscarella, Giulia; Panasiti, Vincenzo; Vaienti, Luca; Persichetti, Paolo

doi:10.1111/ijd.15944

Int J Dermatology

2021

DOI: 10.1111/ijd.15944

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Basal cell carcinoma arising within port‐wine stain

Giovanni Francesco Marangi

Francesco Segreto

Mario Alessandri‐Bonetti

et al.

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2023

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“…Currently, there are reports of 36 patients and 79 BCCs arising within PWB, especially in patients who had undergone previous treatments with radiotherapy, or with occupational exposure to sunlight. 41 These may be difficult to detect, mainly because over time the stain gradually darkens, becomes thicker, raised, and nodular, concealing potential malignant lesions. In most cases, simple excision of the tumor is sufficient, followed by skin grafting if needed.…”

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Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

Sanchez-Espino¹,

Ivars²,

Antoñanzas³

et al. 2023

TACG

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Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis and seizures. It is caused by a postzygotic, somatic, gain-of-function variant of the GNAQ gene, and more recently, the GNA11 gene in association with distinctive clinical features. Neuroimaging can help identify and stratify patients at risk for significant complications allowing closer follow-up; although no presymptomatic treatment has been demonstrated to be effective to date, these patients could benefit from early treatment and/or supportive interventions. Choroid plexus (CP) thickness measurements in brain magnetic resonance imaging (MRI) have a high sensitivity and specificity for early and incipient changes in SWS. In contrast, the absence of pathologic findings makes it possible to rule out associated neurological involvement and leads to periodical observation, with new imaging studies only in cases of new clinical signs/symptoms. Periodic ophthalmological examination is also recommended every 3 months during the first year and yearly afterwards to monitor for glaucoma and choroidal hemangiomas. Treatment for SWS depends on the extent and areas that are affected. These include laser surgery for PWB, anticonvulsants in the case of brain involvement, with either seizures or abnormal EEG, and medical treatment or surgery for glaucoma. Sirolimus has been used in a limited number of patients and appears to be a safe and potentially effective treatment for cutaneous and extra-cutaneous features, however controlled clinical studies have not been carried out. Better knowledge of GNAQ/GNA11 molecular pathways will help to develop future targeted treatments.

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confidence: 99%

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

Sanchez-Espino¹,

Ivars²,

Antoñanzas³

et al. 2023

TACG

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Basal cell carcinoma arising within port‐wine stain

Cited by 1 publication

References 6 publications

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

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