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Unilateral multiple facial angiofibromas as a solitary manifestation of tuberous sclerosis
British Journal of Dermatology ; 185(Supplement 1):74, 2021.
Article in English | EMBASE | ID: covidwho-2269755
ABSTRACT
We describe the case of a 12-year-old boy who presented via teledermatology with a 5-6-year history of multiple lesions on the right side of his face. They were unchanged since their initial appearance at 6 years of age but were slowly increasing in number across his right cheek and extending onto the chin. Although the lesions were asymptomatic, growing older had made him feel increasingly self-conscious. He was otherwise fit and well, and attended mainstream school, with no past medical history or family history of note. Perinatal and birth history were also uneventful. On examination, he had multiple, 1-2-mm, erythematous papules confined to the right cheek and right chin. Dermoscopy showed an unusual pattern of vessels with nonspecific globules in between. The rest of the skin, hair and nails were entirely normal in appearance. There were no systemic symptoms and a detailed general and systemic examination, as well as radiological imaging, did not reveal any abnormality. An excisional biopsy was taken of one of the lesions, with histological examination demonstrating focal superficial telangiectasia with associated bland round-tospindle cell proliferation, appearances most in keeping with an angiofibroma. This correlated well clinically, apart from unilateral facial angiofibromas being the solitary finding in our patient. Facial angiofibromas - also called adenoma sebaceum - are well described as part of the cutaneous manifestations of tuberous sclerosis (TSC). Classically, these appear as a facial rash in the form of small pink or red spots across the cheeks and nose in a butterfly distribution, at between 3 and 10 years of age, increasing in size and number until adolescence. TSC is an autosomal dominant disorder with defective mammalian target of rapamycin (mTOR) signalling, characterized by hamartomas in many organs, particularly the skin, central nervous system, renal and cardiovascular systems. The clinical presentation is variable, with other well known and frequently reported cutaneous findings such as shagreen patches, ash-leaf macules and periungual fibromas. Unilateral multiple facial angiofibromas in the absence of other cutaneous or systemic manifestations of TSC - as in our patient - are rare, with only 13 reported cases. These may form part of the clinical spectrum of TSC as a probable consequence of cutaneous mosaicism in which a postzygotic genetic mutation has occurred. Our patient was referred for genetic testing, but this has been delayed as a result of the COVID-19 pandemic. Topical sirolimus 1% - an mTOR inhibitor - has been used with good effect for facial angiofibromas, and our patient also responded well to this.
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Full text: Available Collection: Databases of international organizations Database: EMBASE Language: English Journal: British Journal of Dermatology Year: 2021 Document Type: Article

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Full text: Available Collection: Databases of international organizations Database: EMBASE Language: English Journal: British Journal of Dermatology Year: 2021 Document Type: Article