Clinical outcomes and operational impact of a medical photography based teledermatology service with over 8,000 patients in the UK.

A new, store-and-forward, fully digitised Teledermatology (TD) pathway was designed and implemented in an urban setting for non-two-week wait routine patients. In total 8,352 new patients had a TD consultation over 37 months. Of these, 4,748 (56.8%) were referred back to their GP, 1,634 (19.6%) were referred directly for a surgical procedure and 1,970 (23.6%) for a face-to-face review with a Dermatologist (F2F). The average waiting time for a TD appointment was 3 vs. 30 weeks for a routine F2F appointment. Between 2019 and 2018, TD referrals rose by 38%, routine dermatology referrals reduced by 16% and cancer referrals increased by 6%. Using medical photographers proved to be effective with only two cases (0.02%) of images being of insufficient quality to form a clinical opinion. Hitherto, savings for the local Commissioning Groups were estimated at £671,218. Last financial year savings (2019-2020) were £284,671. The average cost savings per TD patient appointment was £80.36. Savings in the Trust's overhead costs were £53,587. TD consultants reviewed almost twice the number of patients vs. F2F for the same amount of consultant programmed activities. 95% of surveyed patients would be likely or extremely likely to recommend this service to friends and family.

Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.

Incontinentia pigmenti (IP) is an X-linked, dominant genodermatosis usually fatal in utero in males. In rare circumstances, survival is possible due to abnormal karyotype or somatic mosaicism. In this report, the mechanism and significance of loss of detectable mutation in peripheral blood leukocytes of a somatic mosaic male is discussed and an alternative approach to achieving molecular diagnosis presented. A male patient is reported, who initially presented at 2 days of age with a rash and seizure. Clinical assessment and histology of a skin biopsy were consistent with a diagnosis of IP. He was subsequently found to have bilateral retinal detachments. Screening for the common deletion in IKBKG was negative. A novel nonsense variant, c.937C>T (p.Gln313*) in IKBKG was identified at an approximate level of 15% in a blood sample taken at 10 days of age, but was undetectable in a sample taken at 3 years most likely due to selective apoptosis of mutant cells. Samples taken from the patient when he was 5-6 years of age identified the mutation at a low level in hair root and urine but not in blood or buccal cells. The detection of the mutation in cells derived from all germ layers indicates a de novo event at an early stage of embryogenesis. This is the first report of a nonsense mutation in a male IP patient.

Patients are happy to be informed of their final non-melanoma skin cancer results by post.

During the past year, because of increasing pressure to see more patients, we have started to write to our patients informing them in a letter of their final skin cancer histology results following surgery for non-melanoma skin cancers: basal cell carcinoma and squamous cell carcinoma only. A questionnaire-based study was carried out to assess whether patients were happy to receive information concerning their non-melanoma skin cancer diagnosis in a carefully worded letter. One-hundred fifty patients were involved with a diagnosis of "completely excised non-melanoma skin cancer (NMSC)" that had previously received their final diagnosis by post. Seventy-seven (51.3%) patients responded to the questionnaire. Eighty-seven percent felt that they had been given the cancer diagnosis in an appropriate manner; 90 percent reported that they had understood the explanation about their skin cancer. In addition, 81 percent stated that they had been sufficiently involved in the discussion about their skin cancer and its treatment. Patients gave an average rating of 7.76 (1 = poor and 10 = excellent) for the overall experience of care that they had received. By writing to the patient with their final histology results, we have reduced the number of follow-up appointments without reducing the quality of patient care.

An unusual presentation of a common disease.

We present a case of perforating granuloma annulare (PGA), in which we show the natural history of lesions and outline the different clinical types. Our patient responded well to intralesional triamcinolone acetonide 10mg/ml injections. Although she was otherwise well, PGA can be associated with diabetes mellitus in up to 17 percent of cases. Differential clinico-histopathological diagnosis, specifically in relation to necrobiosis lipoidica diabeticorum is being discussed. Treatment for PGA is difficult; apart from topical and/or intralesional steroids (clearance up to 54% in one case series), other options include Psoralen plus UVA (PUVA), systemic isotretinoin, chloroquine or hydroxylchloroquine, sulphapyridine, dapsone, topical application of imidazole creams, and liquid nitrogen. Spontaneous remission has also been reported in up to 77 percent in one case series.