Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism.

Oculocutaneous albinism (OCA) is a genetic disease caused by disorders in melanin synthesis or distribution. In this descriptive study conducted in a tertiary care pediatric hospital, patients with a clinical diagnosis of OCA and genetic study were retrospectively recruited and underwent dermatological and ophthalmological exam, including optical coherence tomography (OCT) and digital dermoscopy. Our findings revealed milder OCA phenotypic expression in individuals harboring single pathogenic mutations in conjunction with polymorphisms, as well as in those with mutations of uncertain significance. Regardless OCA subgroup, severe phenotypes of OCA were associated with a higher number of mutations/polymorphisms in melanin biosynthesis genes and paler dermoscopic patterns, such as vascular pattern, which was the most common pattern in our series.

A Single-Center Retrospective Study of Pediatric Vitiligo in a Tertiary Hospital.

Vitiligo is a common disorder; however, its management is unknown by many primary-care doctors and pediatricians. Most articles focus on adults; we analyze the characteristics and impact on children. A single-center retrospective study was conducted over 10 years on 254 children diagnosed with vitiligo. About 50.4% were male with a mean age of 8.24 years. There was a slight predominance of nonsegmented vitiligo. About 12.59% had family history of vitiligo and 11.4% of autoimmune diseases. Around 15.7% patients presented other dermatological diseases and 9.05%, autoimmune diseases. No significant statistical differences were found when comparing age, sex, and type of vitiligo with other variables. Almost 96.06% received treatment with calcineurin inhibitors and 66.53% topical steroids. Around 77% obtained repigmentation, and out of the initial nonresponders, 16% responded to phototherapy. In general, our results concur with the scarce literature. A long-term follow-up of children with vitiligo is needed to identify treatment side effects and diseases associated.

Thermography as a Method for Bedside Monitoring of Infantile Hemangiomas.

Infantile hemangiomas occur in 3 to 10% of infants. To predict the clinical course and counsel on treatment, it is crucial to accurately determine the hemangiomas' extension, volume, and location. However, this can represent a challenge because hemangiomas may present irregular patterns or be covered by hair, or their depth may be difficult to estimate. Diagnosis is commonly made by clinical inspection and palpation, with physicians basing their diagnoses on visual characteristics such as area, texture, and color. Doppler ultrasonography or magnetic resonance imaging are normally used to estimate depth or to confirm difficult assessments. This paper presents an alternative diagnosis tool-thermography-as a useful, immediate means of carrying out accurate hemangioma examinations. We conducted a study analyzing infantile hemangiomas with a custom thermographic system. In the first phase of the study, 55 hemangiomas of previously diagnosed patients were analyzed with a thermal camera over several sessions. An average temperature variation before and after treatment of -0.19 °C was measured. In the second phase, we selected nine patients and assessed their evolution over nine months by analyzing their thermographic images and implementing dedicated image processing algorithms. In all cases, we found that the thermal image analysis concurred with the independent diagnoses of two dermatologists. We concluded that a higher temperature inside the tumor in the follow-up was indicative of an undesirable evolution.

Vulvar dermatoses: a cross-sectional 5-year study. Experience in a specialized vulvar unit

Abstract Background: Vulvar diseases are common in the general population and have a negative impact on the quality of life. Objectives: To describe our experience as dermatologists in the management of vulvar dermatosis consultations. Methods: A retrospective observational study was conducted with patients who attended monographic vulvar consultations over a 5-year period. Clinical information was obtained from the patient's charts. Results: 148 women were studied. Their mean age was 43.24 years (standard deviation: 15.15 years), with ages ranging from 4 months to 80 years. 53.4% of patients took between 2 and 5 years to seek medical attention for the first time. The most frequent diagnosis was lichen sclerosus (41.9%), irritative eczema of the vulva (14.9%), and lichen simplex chronicus (10.1%). 83.8% reported anogenital itching, 66.2% pain, and 45.9% dyspareunia. The most frequently prescribed treatment was ultra-potent topical corticosteroids (clobetasol propionate; 41.2%). Patients with lichen sclerosus were significantly older than those who presented with any of the other diseases. No differences were found in terms of either the time of disease evolution or in symptom presentation. Study limitations: Retrospective study. Vulvar diseases with an infectious cause are usually managed in primary care, therefore, were not included. All patients were recruited from a single private hospital which limits the comparisons with the public health system. Conclusions: Vulvar diseases frequently occur and are associated with high morbidity. It is essential to promote the development of specific vulvar consultations in hospitals. Specialties such as dermatology, gynecology, urology, or physiotherapy must be part of these units.

Vulvar dermatoses: a cross-sectional 5-year study. Experience in a specialized vulvar unit.

BACKGROUND: Vulvar diseases are common in the general population and have a negative impact on the quality of life. OBJECTIVES: To describe our experience as dermatologists in the management of vulvar dermatosis consultations. METHODS: A retrospective observational study was conducted with patients who attended monographic vulvar consultations over a 5-year period. Clinical information was obtained from the patient's charts. RESULTS: 148 women were studied. Their mean age was 43.24 years (standard deviation: 15.15 years), with ages ranging from 4 months to 80 years. 53.4% of patients took between 2 and 5 years to seek medical attention for the first time. The most frequent diagnosis was lichen sclerosus (41.9%), irritative eczema of the vulva (14.9%), and lichen simplex chronicus (10.1%). 83.8% reported anogenital itching, 66.2% pain, and 45.9% dyspareunia. The most frequently prescribed treatment was ultra-potent topical corticosteroids (clobetasol propionate; 41.2%). Patients with lichen sclerosus were significantly older than those who presented with any of the other diseases. No differences were found in terms of either the time of disease evolution or in symptom presentation. STUDY LIMITATIONS: Retrospective study. Vulvar diseases with an infectious cause are usually managed in primary care, therefore, were not included. All patients were recruited from a single private hospital which limits the comparisons with the public health system. CONCLUSIONS: Vulvar diseases frequently occur and are associated with high morbidity. It is essential to promote the development of specific vulvar consultations in hospitals. Specialties such as dermatology, gynecology, urology, or physiotherapy must be part of these units.

Inter- and intra-observer variability in the selection of therapy for infantile hemangiomas among pediatric dermatologists in Spain.

BACKGROUND: Guidelines and expert recommendations on infantile hemangiomas (IH) are aimed at increasing homogeneity in clinical decisions based on the risk of sequelae. OBJECTIVE: The objective was to analyze the inter- and intra-observer agreement among pediatric dermatologists in the choice of treatment for IH. METHODS: We performed a cross-sectional inter-rater and intra-rater agreement study within the Spanish infantile hemangioma registry. Twenty-seven pediatric dermatologists were invited to participate in a survey with 50 clinical vignettes randomly selected within the registry. Each vignette contained a picture of an infantile hemangioma with a clinical description. Raters chose therapy among observation, topical timolol, or oral propranolol. The same survey reordered was completed 1 month later to assess intra-rater agreement. Vignettes were stratified into hemangioma risk categories following the Spanish consensus on IH. The agreement was measured using kappa statistics appropriate for the type of data (Gwet's AC1 coefficient and Gwet's paired t test). RESULTS: Twenty-four dermatologists completed the survey. Vignettes represented 7.8% of the Spanish hemangioma registry. The inter-rater agreement on the treatment decision was fair (AC1  = 0.39, 95% confidence interval [CI]: 0.30-0.47). When stratified by risk category, good agreement was reached for high-risk hemangiomas (AC1  = 0.77, 95% CI: 0.51-1.00), whereas for intermediate- and low-risk categories, the agreement was only fair (AC1 0.31, 95% CI: 0.16-0.46 and AC1  = 0.38, 95% CI: 0.27-0.48, respectively). Propranolol was the main option for high-risk hemangiomas (86.4%), timolol for intermediate-risk (36.8%), and observation for low-risk ones (55.9%). The intra-rater agreement was good. The inter-rater agreement between pediatric dermatologists on the treatment of IH is only fair. Variability was most significant with intermediate- and low-risk hemangiomas.

Novel Non-Invasive Quantification and Imaging of Eumelanin and DHICA Subunit in Skin Lesions by Raman Spectroscopy and MCR Algorithm: Improving Dysplastic Nevi Diagnosis.

Malignant melanoma (MM) is the most aggressive form of skin cancer, and around 30% of them may develop from pre-existing dysplastic nevi (DN). Diagnosis of DN is a relevant clinical challenge, as these are intermediate lesions between benign and malignant tumors, and, up to date, few studies have focused on their diagnosis. In this study, the accuracy of Raman spectroscopy (RS) is assessed, together with multivariate analysis (MA), to classify 44 biopsies of MM, DN and compound nevus (CN) tumors. For this, we implement a novel methodology to non-invasively quantify and localize the eumelanin pigment, considered as a tumoral biomarker, by means of RS imaging coupled with the Multivariate Curve Resolution-Alternative Least Squares (MCR-ALS) algorithm. This represents a step forward with respect to the currently established technique for melanin analysis, High-Performance Liquid Chromatography (HPLC), which is invasive and cannot provide information about the spatial distribution of molecules. For the first time, we show that the 5, 6-dihydroxyindole (DHI) to 5,6-dihydroxyindole-2-carboxylic acid (DHICA) ratio is higher in DN than in MM and CN lesions. These differences in chemical composition are used by the Partial Least Squares-Discriminant Analysis (PLS-DA) algorithm to identify DN lesions in an efficient, non-invasive, fast, objective and cost-effective method, with sensitivity and specificity of 100% and 94.1%, respectively.

Picadura de la araña reclusa / Bite of recluse spider

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Efficacy and Safety of Topical Timolol for the Treatment of Infantile Hemangioma in the Early Proliferative Stage: A Randomized Clinical Trial.

Importance: Treatment of infantile hemangioma (IH) with topical timolol in the first 2 months of life (early proliferative phase) may prevent further growth and the need for treatment with oral propranolol. To our knowledge, no studies have determined whether beginning early treatment with timolol for IH is better than in other proliferative stages. Objective: To evaluate the efficacy and safety of timolol maleate solution, 0.5%, for the early treatment of IH in infants younger than 60 days. Design, Setting, and Participants: This multicenter, randomized, double-blind, placebo-controlled, phase 2a pilot clinical trial included patients aged 10 to 60 days with focal or segmental hemangiomas (superficial, deep, mixed, or minimal/arrested growth). Patients were randomly assigned to treatment with topical timolol maleate solution, 0.5%, or placebo twice daily for 24 weeks. Changes in lesion size (volume, thickness) and color were evaluated from photographs taken at 2, 4, 8, 12, 24, and 36 weeks. Vital signs and adverse effects were recorded at each visit. The study was carried out from November 2015 to January 2017, and data analyses were completed in September 2019. Main Outcomes and Measures: The primary outcome of complete or nearly complete IH resolution and the secondary outcomes of changes in lesion thickness, volume, and color were evaluated by a blinded investigator. Results: Of the 69 patients recruited, the mean (SD) age was 48.4 (10.6) days; 55 (80%) were female; and 51 (74%), 11 (16%), 6 (9%), and 1 (1%) had superficial, mixed, abortive, or deep IHs, respectively. The IHs were localized, segmental, or indeterminate in 60 (87%), 7 (10%), and 2 (3%) patients, respectively. The IHs were located on the head and/or neck (n = 23 [33%]) or other body sites (n = 46 [67%]). The study was completed by 26 of 33 (79%) patients receiving timolol and 31 of 36 (86%) receiving placebo. There were no significant differences between timolol and placebo for complete or nearly complete IH resolution at 24 weeks (n = 11 [42%] vs n = 11 [36%]; P = .37). The odds ratio of complete or almost complete response vs no response at week 24 was 1.33 (95% CI, 0.45-3.89). There were no between-group differences in IH size (volume, thickness). An improvement in color was observed at week 4 in the timolol group, and timolol was well tolerated with no systemic adverse effects. Conclusions and Relevance: In this randomized clinical trial, results demonstrated that topical timolol is well tolerated for the treatment of early proliferative IH but provides limited benefit in lesion resolution when given during the early proliferative stage. Trial Registration: EudraCT Identifier: 2013-005199-17.

Unilateral clubbing-like digital thickening as a clinical manifestation of low-flow vascular malformations: a series of 13 cases.

BACKGROUND: Digital clubbing is a well-known clinical sign characterized by thickening of the distal phalanges of the fingers and toes. Unilateral clubbing occurs less frequently. A previous report showed for the first time two cases of unilateral clubbing as a clinical manifestation of lower limb venous malformation. The objective of the present study is to describe a series of 13 patients with a low-flow vascular malformation where a clubbing-like unilateral digital thickening is also observed. METHODS: All patients were retrospectively included after reviewing clinical photographs from a vascular malformations database. RESULTS: A total of 13 patients with low-flow vascular malformations were included in this study. The mean age at diagnosis was 11 years (range 5-26 years) with a female predominance (nine patients). The most frequent vascular malformation collected was a blue rubber bleb nevus syndrome in four patients, followed by common venous malformations in three patients. All patients characteristically exhibited a clubbing-like digital thickening. Seven patients had foot involvement and six patients hand involvement. CONCLUSIONS: Although the number of cases is limited, our study is the first series of cases where a clubbing-like digital thickening is described in patients with a low-flow vascular malformation. The unilateral presence of clubbing or pseudoclubbing should lead to the suspicion of an underlying vascular malformation.

Sequelae following infantile haemangiomas treated with propranolol.

BACKGROUND: Oral propranolol accelerates the involution of infantile haemangiomas (IHs). However, it is not clear whether IHs treated with oral propranolol are associated with fewer sequelae than when left untreated. OBJECTIVES: To quantify and describe sequelae associated with IHs treated with oral propranolol, and to explore whether treated IHs are associated with fewer sequelae than untreated IHs. MATERIALS & METHODS: This multicentre, retrospective, cohort study included patients with IH treated with oral propranolol ≥2 mg/kg for at least six months, with photographic images available at baseline and at age 4-5 years. A historical comparison cohort comprised 185 patients with untreated IHs. Main outcomes/measures were: IH features, treatment characteristics and type/degree of sequelae. RESULTS: Oral propranolol, most commonly at 2 mg/kg/day (mean duration: nine months), was initiated in 171 patients (mean age: 6.02 months). After treatment, 125 of 171 (73.1%) IHs were associated with no/minimal sequelae. The most common sequelae were telangiectasia (78%), fibrofatty tissue (37%) and anetodermic skin (28%). Deep IHs were associated with significantly fewer sequelae than other subtypes. Ulceration appeared to increase the likelihood of severe sequelae. IHs with a stepped border was associated with more severe sequelae than those with a progressive border (44% versus 27%, p < 0.05). Treated IHs resolved without sequelae or were associated with a sequela that did not need correction in 27.7% more cases than untreated IHs (RR: 1.61; p < 0.001). CONCLUSION: Among IHs treated with oral propranolol, 73% resolved without, or were associated with minimal sequelae. Deep IHs were associated fewer sequelae than other subtypes. Oral propranolol decreased the likelihood of IH sequelae requiring correction.

Direct-to-consumer, store-and-forward teledermatology with dermoscopy using the pharmacist as patient point-of-contact.

OBJECTIVE(S): To evaluate the frequency of nonmelanoma skin cancer (NMSC), NMSC precursors, and melanoma on a store-and-forward dermatology model featuring the pharmacist as the patient's point-of-contact. The secondary objective was to define lesion changes and symptoms perceived by patients (clinical prediction rules by nonexpert observers) that can be predictive of malignity. METHODS: A cross-sectional study of teledermatology consultation was performed. All patients who underwent a teledermatology consultation between September 2018 and March 2020 were included. A patient could have more than 1 lesion per consultation. The object of the study was a defined dermatologic lesion. The differences between the variables were analyzed using a univariate model based on the chi-square test for independent qualitative variables and Fisher exact test in cases when the expected values in any of the cells of a contingency table were less than 5. Statistical significance was set at P < 0.05 (2-tailed). RESULTS: A total of 225 lesions in 218 patients were considered for this study; 53.8% (n = 121) of the lesions were classified as benign, 16.4% (n = 37) as dubious, 23.1% (n = 52) as NMSC precursors, 5.8% (n = 13) as NMSC, and 0.9% (n = 2) as melanomas. Of the reported clinical lesion changes, spontaneous pain, pruritus, surface texture changes, color changes, or form changes had no statistically significant relationship with the diagnostic group, whereas the presence of spontaneous bleeding (P = 0.015) and size changes (P = 0.026) were more frequently observed in the "dubious lesion" and "of oncological relevance lesion" groups. CONCLUSION: This "direct-to-consumer," store-and-forward teledermatology with dermoscopy model featuring the pharmacist as the patient's point-of-contact is useful for the diagnosis of melanoma, NMSC, and NMSC precursors when backed by a robust dermatology service.