Unilateral multiple facial angiofibromas as a solitary manifestation of tuberous sclerosis

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.

Evaluating paediatric dermatology telephone clinics during COVID-19 from a dual clinician and patient perspective: a prospective study.

BACKGROUND: The landscape of dermatology services, already rapidly evolving into an increasingly digital one, has been irretrievably altered by the COVID-19 (SARS-CoV-2) pandemic. Data are needed to assess how best to deliver virtual dermatology services in specific patient subgroups in an era of ongoing social distancing and beyond. Initial studies of teledermatology in paediatric populations suggest that many of the problems experienced in adult telemedicine are more apparent when treating children and come with additional challenges. AIM: To evaluate the efficacy of a virtual paediatric dermatology telephone clinic in comparison to traditional face-to-face (FTF) clinics, both from the clinician and patient/parental perspective. METHODS: We carried out a prospective service evaluation examining a single centre cohort of paediatric dermatology patients managed during the COVID-19 pandemic via a telephone clinic supported by images. The study period covered June-September 2020. Data on outcomes were collected from clinicians and a qualitative patient/parental telephone survey was undertaken separately. A five-point Likert scale was used to assess both satisfaction and levels of agreement regarding whether a telephone clinic was more convenient than an FTF clinic. RESULTS: Of 116 patients included, 24% were new and 76% were follow-up patients, with a mixture of inflammatory dermatoses (75%) and lesions (25%). From the clinician's perspective, most consultations (91%) were successfully completed over the telephone. However, qualitative patient and parent feedback paradoxically illustrated that although nearly all (98%) respondents had no outstanding concerns, 52% felt highly unsatisfied and only 22% agreed that telephone clinics were more convenient. Most (65%) preferred FTF follow-up in the future. Statistical analysis using χ² test showed that among those with established follow-ups, the preference for future consultation type was independent of specific reasons for follow-up. CONCLUSIONS: Our study demonstrates a clear discrepancy between the practical successes of a virtual service from the clinician's perspective compared with the patient/parental perspective. Parental anxiety appears to be less effectively allayed virtually than with FTF. This raises the question of whether there is a role for virtual paediatric telephone clinics in the postpandemic future, which may be better left to patients/parents to decide on an individual basis.

Generalised Panniculitis as a Post-COVID-19 Presentation in a Child with Aicardi-Goutières Syndrome

A 5-year-old girl was admitted with a 3-week history of cutaneous changes affecting her face and upper limbs. There was recent exposure to COVID-19 with an affected family member at home, but our patient did not have a history of respiratory illness or fever. She was born to consanguineous parents and had a presumed diagnosis of Aicardi-Goutières Syndrome (AGS), which had been confirmed in her older sibling with identical phenotype. Physical examination revealed dusky areas of induration involving the face, bilateral forearms and hands with associated oedema. With throat swabs negative for SARS-CoV-2 and no clear cause for the rash, the most likely explanation was thought to be a post-COVID-19 phenomenon. Our suspicion was confirmed by the presence of SARS-Cov-2 IgG antibodies. Histological examination demonstrated panniculitis with a predominantly lymphocytic infiltrate. As the skin changes continued to extend, the patient was commenced on prednisolone 20 mg once daily with good response. AGS is a hereditary early-onset encephalopathy and characterised by upregulation of type-1-interferon (IFN) activity, a key player in the host immune response against viral infections (1). We suggest that our patient developed an entirely unique, COVID-19 triggered, prolonged auto-inflammatory, type-1-IFN driven response, resulting from a previously unreported combination of AGS and COVID-19 infection, leading to her generalised panniculitis. Recent studies have implicated type-1-IFN signalling in the pathogenesis of COVID-19 associated perniosis and a favourable outcome (2). Upregulation of this pathway was clearly protective in our patient. References: 1. Crow Y, Manel N. Aicardi-Goutières syndrome and the type I interferonopathies. Nat Rev Immunol 2015 15, 429-440. 2. Magro C, Mulvey JJ, Laurence J, et al. The differing pathophysiologies that underlie COVID-19 associated perniosis and thrombotic retiform purpura: A case series [published online ahead of print, 2020 Jul 22]. Br J Dermatol. 2020.

A paradigm shift in trainee confidence in teledermatology and virtual working during the COVID-19 pandemic: results of a follow-up UK-wide survey.

The entire landscape of dermatology service provision has been transformed by the current SARS-CoV-2 (COVID) pandemic, with virtual working having become the new norm across the UK. A pre-pandemic UK-wide survey of dermatology registrars in training demonstrated a huge shortfall in trainee confidence in their teledermatology skills, with only 15% feeling even slightly confident, while 96% of trainees surveyed felt that more teaching in this area was needed. We carried out a follow-up trainee survey during the COVID-19 pandemic, which showed that the sudden thrust into virtual working had achieved dramatic gains in trainee confidence, propelling the percentage of trainees that now felt slightly confident to 58%. However, the shortfall remains, as does the pressing need to incorporate teledermatology into the trainee teaching timetable.

A UK-wide survey looking at teaching and trainee confidence in teledermatology: a vital gap in a COVID-19-induced era of rapid digital transformation?

Teledermatology has had an explosive impact on the provision of dermatology services in recent times, and even more so with the unprecedented situation created by the COVID-19 pandemic. Although teledermatology is not presently a feature of the Joint Royal Colleges of Physicians Training Board (JRCPTB) curriculum for dermatology training, this is due to change imminently. Specialty trainees need training in this area to be able to confidently and competently meet the demands of the changing face of dermatology services. We surveyed dermatology registrars in training across the UK, prior to the outbreak of COVID-19, to ascertain the teledermatology teaching available and trainee confidence in this area. Our survey found that only 15% of respondents felt slightly confident in their ability to deal with teledermatology referrals and almost all (96%) felt more teaching was needed.