Satisfactory treatment of mucocutaneous lesions in hereditary hemorrhagic telangiectasia patients with dual pulsed dye laser and neodymium: yttrium-aluminum-garnet.

Hereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia and larger arteriovenous malformations (AVM) in different organs. Mucocutaneous telangiectasia can bleed and cause stigmatization, but the best treatment approach has not been defined yet. The aim of the study was to evaluate the efficacy and safety of dual pulsed dye laser and neodymium: yttrium-aluminum-garnet (PDL-Nd:YAG) laser treatment for mucocutaneous telangiectasia in HHT patients. It is a retrospective case series, where clinical files of all HHT patients treated with PDL-Nd:YAG laser at our Department between December 2010 and July 2019 were reviewed. Demographic, clinical, and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners scoring pretreatment and posttreatment pictures on a 5-point scale. Patient satisfaction and procedure pain were assessed using an ordinal scale (0-10). Forty-three treatment areas from 26 patients were analyzed. Lesions were predominantly located on the lower lip and cheeks. The median number of laser sessions per patient was 3 (interquartile range [IQR] 2-4). The median global severity score at baseline was 2 and became 0 at endpoint (p < 0.0001), with a median improvement rate of 4 (IQR 3-4). All patients reported a high degree of satisfaction (median 9) and tolerable pain (median 5). In conclusion, dual PDL-Nd: YAG laser is a convenient, safe, and effective treatment option for mucocutaneous telangiectasia in HHT patients.

A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome.

We report a 6-year-old female with linear skin hyperpigmentation on the axillae and groin, intellectual disability, dysplastic teeth and nails, and facial dysmorphism who was diagnosed with a novel PHF6 pathogenic splicing variant. Males with PHF6 mutations have been associated with the X-linked recessive disorder Börjeson-Forssman-Lehmann, but females have a distinct phenotype which is likely modulated by X-inactivation.

Maculopapular eruptions associated to COVID-19: A subanalysis of the COVID-Piel study.

A previous study has defined the maculopapular subtype of manifestations of COVID-19. The objective of our study was to describe and classify maculopapular eruptions associated with COVI-19. We carried out a subanalysis of the maculopapular cases found in the previous cross-sectional study. Using a consensus, we defined seven clinical patterns. We described patient demographics, the therapy received by the patient and the characteristics of each pattern. Consensus lead to the description of seven major maculopapular patterns: morbilliform (45.5%), other maculopapular (20.0%), purpuric (14.2%), erythema multiforme-like (9.7%), pytiriasis rosea-like (5.7%), erythema elevatum diutinum-like (2.3%), and perifollicular (2.3%). In most cases, maculopapular eruptions were coincident (61.9%) or subsequent (34.1%) to the onset of other COVID-19 manifestations. The most frequent were cough (76%), dyspnea (72%), fever (88%), and astenia (62%). Hospital admission due to pneumonia was frequent (61%). Drug intake was frequent (78%). Laboratory alterations associated with maculo-papular eruptions were high C-reactive protein, high D-Dimer, lymphopenia, high ferritin, high LDH, and high IL-6. The main limitation of our study was the impossibility to define the cause-effect relationship of each pattern. In conclusion, we provide a description of the cutaneous maculopapular manifestations associated with COVID-19. The cutaneous manifestations of COVID-19 are wide-ranging and can mimic other dermatoses.

Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth.

BACKGROUND: Diffuse capillary malformation with overgrowth (DCMO) has been well described. However, capillary malformation with undergrowth (CMU) has been less reported in the literature. OBJECTIVES: We sought to describe the clinical features and determine associated somatic mutations in patients with CMU. METHODS: We searched our multidisciplinary vascular anomalies clinic database for patients with CMU. Girth and length limb measurements were performed. In case of discrepancies in length, long leg radiograph studies were obtained. Whole-exome sequencing of blood and involved tissue DNA was carried out. RESULTS: We included six patients with CM and soft-tissue and bone undergrowth. CMs were patchy, reticulated, segmental, poorly demarcated, pink-red stains affecting the lower limb (five patients) or the whole hemibody (one patient). In five patients, the stain was diffuse, affecting more than one anatomic region. Prominent superficial veins were observed in three patients. Five patients presented with lower limb girth discrepancy; in three of them, there was also lower limb length discrepancy. In the remaining patient, only lower limb length discrepancy was found. Whole-exome sequencing from DNA tissue/blood detected previously described pathogenic somatic mutations on DDR2 (c.314G > A; p.Arg105His), GRHL2 (c.791A > G; p.Glu264Gly), and PIK3CA (c.2740G > A; p.Gly914Arg) genes. CONCLUSION: We propose the term "diffuse capillary malformation with undergrowth" for extensive reticular CMs associated with proportionate undergrowth. All our patients had a favorable outcome, and no genotype-phenotype association was found.

Late growth of infantile hemangiomas in children >3 years of age: A retrospective study.

BACKGROUND: The proliferative phase of infantile hemangiomas (IHs) is usually complete by 9 months of life. Late growth beyond age 3 years is rarely reported. OBJECTIVE: To describe the demographic and clinic characteristics of a cohort of patients with late growth of IH, defined as growth in a patient >3 years of age. METHODS: A multicenter, retrospective cohort study. RESULTS: In total, 59 patients, 85% of which were female, met the inclusion criteria. The mean first episode of late growth was 4.3 (range 3-8.5) years. Head and neck location (55/59; 93%) and presence of deep hemangioma (52/59; 88%) were common characteristics. Posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities (PHACE) syndrome was noted in 20 of 38 (53%) children with segmental facial IH. Systemic therapy (corticosteroid or ß-blocker) was given during infancy in 58 of 59 (98%) and 24 of 59 (41%) received systemic therapy (ß-blockers) for late IH growth. LIMITATIONS: The retrospective nature and ascertainment by investigator recall are limitations of the study. CONCLUSION: Late IH growth can occur in children after 3 years of age. Risk factors include head and neck location, segmental morphology, and involvement of deep dermal/subcutaneous tissues.

Verrucous Plaque With Unusually Large Candida Blastoconidia: A Unique Clinicopathological Presentation of Systemic Mucocutaneous Candidiasis.

Mucocutaneous candidiasis is a common infection affecting both immunocompetent and immunosuppressed individuals. Diversity in the clinical and histopathological presentation of mucocutaneous candidiasis is well known. However, the occurrence of cutaneous verrucous lesions and giant yeast-like structures has been rarely reported. In this article, we describe a case of disseminated mucocutaneous candidiasis in an immunosuppressed patient who presented as a verrucous plaque on the scrotum with giant Candida blastoconidia. This peculiar presentation expands the clinicopathological spectrum of mucocutaneous candidiasis and highlights the wide range of clinical manifestations and great morphologic variability of this common fungal infection.

Exploring the potential of artificial intelligence in improving skin lesion diagnosis in primary care.

Dermatological conditions are a relevant health problem. Machine learning (ML) models are increasingly being applied to dermatology as a diagnostic decision support tool using image analysis, especially for skin cancer detection and disease classification. The objective of this study was to perform a prospective validation of an image analysis ML model, which is capable of screening 44 skin diseases, comparing its diagnostic accuracy with that of General Practitioners (GPs) and teledermatology (TD) dermatologists in a real-life setting. Prospective, diagnostic accuracy study including 100 consecutive patients with a skin problem who visited a participating GP in central Catalonia, Spain, between June 2021 and October 2021. The skin issue was first assessed by the GPs. Then an anonymised skin disease picture was taken and uploaded to the ML application, which returned a list with the Top-5 possible diagnosis in order of probability. The same image was then sent to a dermatologist via TD for diagnosis, as per clinical practice. The GPs Top-3, ML model's Top-5 and dermatologist's Top-3 assessments were compared to calculate the accuracy, sensitivity, specificity and diagnostic accuracy of the ML models. The overall Top-1 accuracy of the ML model (39%) was lower than that of GPs (64%) and dermatologists (72%). When the analysis was limited to the diagnoses on which the algorithm had been explicitly trained (n = 82), the balanced Top-1 accuracy of the ML model increased (48%) and in the Top-3 (75%) was comparable to the GPs Top-3 accuracy (76%). The Top-5 accuracy of the ML model (89%) was comparable to the dermatologist Top-3 accuracy (90%). For the different diseases, the sensitivity of the model (Top-3 87% and Top-5 96%) is higher than that of the clinicians (Top-3 GPs 76% and Top-3 dermatologists 84%) only in the benign tumour pathology group, being on the other hand the most prevalent category (n = 53). About the satisfaction of professionals, 92% of the GPs considered it as a useful diagnostic support tool (DST) for the differential diagnosis and in 60% of the cases as an aid in the final diagnosis of the skin lesion. The overall diagnostic accuracy of the model in this study, under real-life conditions, is lower than that of both GPs and dermatologists. This result aligns with the findings of few existing prospective studies conducted under real-life conditions. The outcomes emphasize the significance of involving clinicians in the training of the model and the capability of ML models to assist GPs, particularly in differential diagnosis. Nevertheless, external testing in real-life conditions is crucial for data validation and regulation of these AI diagnostic models before they can be used in primary care.

Clinical and ultrasonography follow-up of five cases of calcinosis cutis successfully treated with intralesional sodium thiosulfate.

Calcinosis cutis (CC) is characterized by deposit of calcium salts in the skin and subcutaneous tissue; its clinical presentation consists of indurated painful nodules, which can ulcerate and become superinfected. CC treatment remains a challenge, yet successful treatment with intralesional (IL) sodium thiosulfate (STS) has been reported in several CC subtypes. Herein we are reporting on a case series of 5 patients with CC successfully treated with IL-STS. We describe the 18-22 MHz ultrasound characteristics of the lesions and on follow-up after treatment. Ultrasound imaging was useful in guiding IL-STS injections and confirming response to treatment.

A facility and community-based assessment of scabies in rural Malawi.

BACKGROUND: Scabies is a neglected tropical disease of the skin, causing severe itching, stigmatizing skin lesions and systemic complications. Since 2015, the DerMalawi project provide an integrated skin diseases clinics and Tele-dermatology care in Malawi. Clinic based data suggested a progressive increase in scabies cases observed. To better identify and treat individuals with scabies in the region, we shifted from a clinic-based model to a community based outreach programme. METHODOLOGY/PRINCIPAL FINDINGS: From May 2015, DerMalawi project provide integrated skin diseases and Tele-dermatological care in the Nkhotakota and Salima health districts in Malawi. Demographic and clinical data of all patients personally attended are recorded. Due to a progressive increase in the number of cases of scabies the project shifted to a community-based outreach programme. For the community outreach activities, we conducted three visits between 2018 to 2019 and undertook screening in schools and villages of Alinafe Hospital catchment area. Treatment was offered for all the cases and school or household contacts. Scabies increased from 2.9% to 39.2% of all cases seen by the DerMalawi project at clinics between 2015 to 2018. During the community-based activities approximately 50% of the population was assessed in each of three visits. The prevalence of scabies was similar in the first two rounds, 15.4% (2392) at the first visit and 17.2% at the second visit. The prevalence of scabies appeared to be lower (2.4%) at the third visit. The prevalence of impetigo appeared unchanged and was 6.7% at the first visit and 5.2% at the final visit. CONCLUSIONS/SIGNIFICANCE: Prevalence of scabies in our setting was very high suggesting that scabies is a major public health problem in parts of Malawi. Further work is required to more accurately assess the burden of disease and develop appropriate public health strategies for its control.