Muir-Torre syndrome: a case of unusual coexisting genetic mutations.

Patients with Muir-Torre syndrome (MTS) commonly have germline mismatch repair mutations in MLH1, MSH2 or MSH6, with a strong predominance in MSH2. A subset of approximately one-third of patients will instead have an autosomal recessive base excision repair mutation in MUTYH called MUTYH polyposis. To the best of our knowledge, this is the first report of coexisting germline MSH2 and MUTYH mutations in a patient with MTS.

The treatment of hidradenitis suppurativa with the glucagon-like peptide-1 agonist liraglutide.

Hidradenitis suppurativa (HS) is a cutaneous disease associated with systemic inflammation, obesity and metabolic syndrome. Effective treatment options are limited. The antidiabetic agents, incretins, have been used successfully to treat psoriasis - a disease also associated with metabolic syndrome. We report the use of liraglutide, a glucagon-like peptide-1 agonist, in a patient with HS, leading to subsequent weight loss and improvement in disease control. To our knowledge, this is the first report of liraglutide used in the treatment of HS.

Multiple cutaneous, oropharyngeal and pulmonary nodules.

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis defined by heterogeneous multiorgan involvement. Due to the rarity of this disease strong evidence-based therapies have yet to be established and prognosis has previously been considered to be poor, with more than half of patients dying within 3 years of initial presentation. We describe an 86-year-old woman with a 34-year history of extensive cutaneous and internal nodules with typical pathological and immunophenotypical (CD68(+) /CD1a(-) ) features of ECD without evidence of the BRAF V600E mutation. The cosmetic appearance of cutaneous nodules and hoarse voice caused by vocal cord nodules has been managed surgically. More aggressive therapies reported for ECD were trialled for this patient, such as radiotherapy and interferon-α, with no response. This case demonstrates a relatively good prognosis in ECD that has been managed conservatively.

Generalized pustular psoriasis associated with Epstein-Barr virus.

Generalized pustular psoriasis (GPP) is a rare and severe variant of psoriasis. We report a case of a 79-year-old woman who presented with generalized pustular psoriasis and significant Epstein-Barr virus (EBV) viraemia. Serial measurements of EBV DNA showed a correlation with the deterioration in her clinical condition. We speculate that EBV reactivation triggered the development of GPP, and propose that further investigation is required into the association between EBV and GPP.

Practical experience of ustekinumab in the treatment of psoriasis: experience from a multicentre, retrospective case cohort study across the U.K. and Ireland.

BACKGROUND: There are limited data on the use of ustekinumab outside of clinical trials. OBJECTIVES: To assess the efficacy and safety of ustekinumab in patients with severe psoriasis attending 10 dermatology centres in the U.K. and Ireland. METHODS: A retrospective case-note review of 129 patients with psoriasis treated with ustekinumab. RESULTS: Baseline Psoriasis Area and Severity Index (PASI) was 22·9±10·1 (mean±SD). After 16weeks of treatment with ustekinumab PASI 75 (75% reduction in PASI) was observed in 63·0% (n=80/127) of patients, although four patients required concomitant therapy at the 16-week time point. Previous biologic use did show a small, non-significant trend towards treatment failure. A PASI 75 response was seen in 29·4% (n=5/17) of individuals weighing 90-100kg and treated with the standard 45mg ustekinumab dose compared with PASI 75 of 70·3%, 71·4%, 75·0% and 55·6% for weight groups <80, 80-90, 100-110 and >110kg, respectively (P=0·024). Ustekinumab therapy was well tolerated; serious adverse events were observed in 2·3% (n=3/129) of patients. CONCLUSIONS: Ustekinumab is a novel biologic agent for psoriasis. When used in everyday clinical practice it demonstrates high levels of short-term therapeutic efficacy with an acceptable short-term safety profile.

A review of the selection process and decontamination methods with the use of face shields in UV phototherapy during the SARS-CoV-2 pandemic.

Targeted ultraviolet (UV) phototherapy has been used in the management of a wide variety of dermatological clinical conditions including moderate to severe psoriasis unresponsive to topical therapies, vitiligo, severe atopic dermatitis and lymphoproliferative disorders. To date there are no uniform, standardised guidelines for the selection and decontamination process for UV personal protective equipment (PPE) and facial shields used in phototherapy. In the current climate, Coronavirus 2019 (COVID-19) pandemic, standards regarding all decontamination and disinfection processes are under significant scrutiny. In terms of the UV-PPE and facial shields used in phototherapy, careful disinfection procedures need to be implemented to ensure that the decontamination practice is effective enough to neutralise the virulent virus whilst maintaining maximal protection to the user from UV-rays and safeguard the equipment from damage during the cleaning process. The aim of this report is to provide an evidence based review of the current and international practice standards guiding the selection, use and decontamination processes of UV facial shields in phototherapy. The complications and concerns that the COVID-19 pandemic has had on this practice is highlighted. As such, we performed a comprehensive evaluation of the literature to provide recommendations as to the most effective, time efficient and safest practices for disinfection and decontamination of UV facial shields used in phototherapy during these unprecedented times.

Neodymium-YAG laser vitreolysis in sickle cell retinopathy.

Six patients with proliferative sickle cell retinopathy and vitreous bands were treated with the neodymium-YAG (Nd-YAG) laser to accomplish lysis of avascular traction bands or to clear the media in front of the macula. Transection of bands was possible in five of the six cases but in two of these the effect was only partial. Three cases were satisfactorily treated with the Nd-YAG laser application alone, two eventually required conventional vitreoretinal surgery, and one patient's condition stabilized despite failure of the treatment. Complications from the treatment occurred in three cases and included subretinal (choroidal) hemorrhage, preretinal hemorrhage, microperforation of a retinal vein, and focal areas of damage to the retinal pigment epithelium. Neodymium-YAG vitreolysis may be a useful modality in carefully selected patients with proliferative sickle cell retinopathy, but potentially sight-threatening complications may occur.

A randomized clinical trial of scatter photocoagulation of proliferative sickle cell retinopathy.

A randomized prospective clinical trial of argon laser scatter photocoagulation therapy for proliferative sickle cell retinopathy was performed on 116 patients (174 eyes) in Kingston, Jamaica. Ninety-nine eyes were treated with scatter photocoagulation and 75 eyes served as controls. The average length of follow-up was 42 months for the control eyes and 47 months for the treated eyes. Prolonged loss of visual acuity was statistically significantly reduced in the treated eyes. The incidence of vitreous hemorrhage was also significantly reduced in the treated eyes after controlling for the previously defined risk factors of vitreous hemorrhage and extent of proliferative sickle cell retinopathy at entry into the study. There were no complications associated with argon laser scatter photocoagulation. Scatter photocoagulation of proliferative sickle cell retinopathy is currently the most effective and safe way to treat patients with sea fan neovascularization.

Studies of the blood-aqueous barrier in diabetes mellitus.

We measured the breakdown of the blood-aqueous barrier in 63 patients with diabetes (126 eyes) by using a laser flare meter. Of 126 eyes, 40 had no retinopathy, 34 had proliferative retinopathy, 24 had regressed proliferative retinopathy, 14 had background retinopathy, and 14 had maculopathy. Eyes were classified into one category only. Mean flare was greater for proliferative retinopathy compared to background retinopathy (P = .0065), no retinopathy (P = .0001), and maculopathy (P = .0189). Flare values were greater for regressed proliferative retinopathy compared to no retinopathy (P = .0118) (paired Student's t-test). Diabetic eyes without demonstrable retinopathy still had higher flare values than control eyes without diabetes. The length of diabetes was greater for those eyes with proliferative diabetic retinopathy (P = .0195), regressed proliferative diabetic retinopathy (P = .0625), and background diabetic retinopathy (P = .006) compared to those with no retinopathy. No significant difference was noted in duration of diabetes for eyes with diabetic maculopathy when compared to those with no retinopathy (P = .5788). Breakdown of the blood-aqueous barrier precedes the development of retinopathy, and the more severe proliferative forms have greater blood-aqueous barrier dysfunction.

Childhood blindness in Jamaica.

Examinations were performed on the 108 blind Jamaican children (VA less than 6/60 in the better eye) in residential care. The congenital rubella syndrome (CRS) was the leading preventable cause of childhood blindness, accounting for 22% of children examined. Improvement of the rubella immunisation programme and the introduction of appropriate surgical procedures constitute recent attempts to combat childhood blindness.

Epiretinal membranes in sickle cell disease.

Epiretinal membranes at the macula were seen in 4% of the eyes of 355 patients with homozygous sickle cell (SS) disease and sickle cell haemoglobin-C (SC) disease under the age of 60 years. The presence of proliferative sickle retinopathy (PSR), the extent of involvement of PSR, and vitreous haemorrhage all constitute risk factors for the formation of epiretinal membranes. The occlusion of PSR lesions by treatment appears to reduce the risk of epiretinal membranes being formed.

The pattern electroretinogram in glaucoma and ocular hypertension.

Thirty one eyes with established glaucoma, 61 high risk ocular hypertensive (OHTs) eyes, 66 medium risk OHT eyes, 58 low risk OHT eyes, and 47 control eyes have been followed for up to 2 years by clinical examination and pattern electroretinography (PERG). The study was 'masked' so electrophysiological and clinical data were kept separate. Criteria have been devised which enable PERG measurements to distinguish all established glaucomatous eyes from all normal controls; these criteria demonstrate abnormalities in some OHT eyes, particularly those at high risk. The PERG abnormality is greatest in eyes with established glaucoma in which the intraocular pressure has been lowered by treatment. The PERG becomes smaller as the degree of clinical abnormality increases. Test-retest variability of the PERG is sufficiently low to ensure that most of those first described as abnormal continue to be so.

Sickle cell retinopathy in Jamaican children: further observations from a cohort study.

Serial retinal examinations were performed in children aged 5 years and older and fluorescein angiography/angioscopy in children 6 years and older participating in a cohort study of sickle cell disease. There were 1229 patient years of observation among 389 children aged 5-13 years. Peripheral retinal vessel closure was present in approximately 50% of children with SS and SC genotypes at age 6 years and increased to affect 90% of children by age 12 years. A matched pair analysis, comparing groups with minimal and complete closure, indicated that complete closure was associated with significantly lower total haemoglobin and fetal haemoglobin levels and significantly lower weight in SS disease, whereas in SC disease the risk factors appeared to be high mean cell volume and low platelet count. Proliferative retinopathy was rare, occurring only once in an 8-year-old boy with SC disease, despite 592 patient years of observation in children over this age.