The impact of microfluidics in high-throughput drug-screening applications.

Drug discovery is an expensive and lengthy process. Among the different phases, drug discovery and preclinical trials play an important role as only 5-10 of all drugs that begin preclinical tests proceed to clinical trials. Indeed, current high-throughput screening technologies are very expensive, as they are unable to dispense small liquid volumes in an accurate and quick way. Moreover, despite being simple and fast, drug screening assays are usually performed under static conditions, thus failing to recapitulate tissue-specific architecture and biomechanical cues present in vivo even in the case of 3D models. On the contrary, microfluidics might offer a more rapid and cost-effective alternative. Although considered incompatible with high-throughput systems for years, technological advancements have demonstrated how this gap is rapidly reducing. In this Review, we want to further outline the role of microfluidics in high-throughput drug screening applications by looking at the multiple strategies for cell seeding, compartmentalization, continuous flow, stimuli administration (e.g., drug gradients or shear stresses), and single-cell analyses.

Dermatofitosis por Microsporum gypseum en un niño con inmunodeficiencia primaria / Microsporum gypseum dermatophytosis in a child with primary immunodeficiency

El Microsporum gypseum es un hongo geofílico que puede producir lesiones cutáneas inflamatorias en personas sanas. Se han descripto lesiones más extensas en pacientes inmunocomprometidos. Se presenta el caso de un paciente con dermatofitosis, con exámenes micológicos positivos para Candida sp, Epidermophytom floccosum y Trichophyton tonsurans, al que, ante la mala respuesta al tratamiento con griseofulvina e itraconazol a dosis habituales, se le realizó biopsia cutánea para cultivo que evidenció la presencia de M. gypseum. Debido a la extensión y a la mala respuesta al tratamiento, se realizó evaluación inmunológica y se diagnosticó un defecto en STAT1 con ganancia de función (STAT1-GOF). Los pacientes que tienen esta inmunodeficiencia primaria son susceptibles a las infecciones micóticas, especialmente por Candida, pero también, aunque en menor medida, a virus y bacterias. El paciente aquí presentado recibió tratamiento prolongado con antimicóticos imidazólicos sistémicos, con resolución de las lesiones.

Microsporum gypseum is a geophilic fungus that can cause inflammatory skin lesions in heathy people. More extensive lesions have been described in immunocompromised patients. We present a patient with extensive dermatophytosis, which mycological examination led the identification of Candida sp, Epidermophyton Floccosum and Trichophyton tonsurans and showed poor response to treatment with griseofulvina and itraconazol at usual doses. When skin biopsy was performed, it had positive culture for M. gypseum. Due to the extension and poor response to treatment, immunological assessment was performed and it showed a defect of STAT1 with gain of function (STAT 1-GOF). Patients with primary immunodeficiency are susceptible to fungal infections, especially Candida but also virus and bacteria, although to a lesser extent. The patient received long-term treatment with systemic imidazole antifungal recovering for the lesions.

[Microsporum gypseum dermatophytosis in a child with primary immunodeficiency]. / Dermatofitosis por Microsporum gypseum en un niño con inmunodeficiencia primaria.

Microsporum gypseum is a geophilic fungus that can cause inflammatory skin lesions in heathy people. More extensive lesions have been described in immunocompromised patients. We present a patient with extensive dermatophytosis, which mycological examination led the identification of Candida sp, Epidermophyton Floccosum and Trichophyton tonsurans and showed poor response to treatment with griseofulvina and itraconazol at usual doses. When skin biopsy was performed, it had positive culture for M. gypseum. Due to the extension and poor response to treatment, immunological assessment was performed and it showed a defect of STAT1 with gain of function (STAT 1-GOF). Patients with primary immunodeficiency are susceptible to fungal infections, especially Candida but also virus and bacteria, although to a lesser extent. The patient received long-term treatment with systemic imidazole antifungal recovering for the lesions.

El Microsporum gypseum es un hongo geofílico que puede producir lesiones cutáneas inflamatorias en personas sanas. Se han descripto lesiones más extensas en pacientes inmunocomprometidos. Se presenta el caso de un paciente con dermatofitosis, con exámenes micológicos positivos para Candida sp, Epidermophytom floccosum y Trichophyton tonsurans, al que, ante la mala respuesta al tratamiento con griseofulvina e itraconazol a dosis habituales, se le realizó biopsia cutánea para cultivo que evidenció la presencia de M. gypseum. Debido a la extensión y a la mala respuesta al tratamiento, se realizó evaluación inmunológica y se diagnosticó un defecto en STAT1 con ganancia de función (STAT1-GOF). Los pacientes que tienen esta inmunodeficiencia primaria son susceptibles a las infecciones micóticas, especialmente por Candida, pero también, aunque en menor medida, a virus y bacterias. El paciente aquí presentado recibió tratamiento prolongado con antimicóticos imidazólicos sistémicos, con resolución de las lesiones.

In Vitro Models for the Development of Peripheral Nerve Conduits, Part I: Design of a Fibrin Gel-Based Non-Contact Test.

Current clinical strategies to repair peripheral nerve injuries draw on different approaches depending on the extent of lost tissue. Nerve guidance conduits (NGCs) are considered to be a promising, off-the-shelf alternative to autografts when modest gaps need to be repaired. Unfortunately, to date, the implantation of an NGC prevents the sacrifice of a healthy nerve at the price of suboptimal clinical performance. Despite the significant number of materials and fabrication strategies proposed, an ideal combination has not been yet identified. Validation and comparison of NGCs ultimately requires in vivo animal testing due to the lack of alternative models, but in the spirit of the 3R principles, a reliable in vitro model for preliminary screening is highly desirable. Nevertheless, more traditional in vitro tests, and direct cell seeding on the material in particular, are not representative of the actual regeneration scenario. Thus, we have designed a very simple set-up in the attempt to appreciate the relevant features of NGCs through in vitro testing, and we have verified its applicability using electrospun NGCs. To this aim, neural cells were encapsulated in a loose fibrin gel and enclosed within the NGC membrane. Different thicknesses and porosity values of two popular polymers (namely gelatin and polycaprolactone) were compared. Results indicate that, with specific implementation, the system might represent a useful tool to characterize crucial NGC design aspects.

Bioprinting of Matrigel Scaffolds for Cancer Research.

Cancer is one of the most life-threatening diseases worldwide. Despite the huge efforts, the failure rate of therapies remains high due to cells heterogeneity, so physiologically relevant models are strictly necessary. Bioprinting is a technology able to form highly complex 3D tissue models and enables the creation of large-scale constructs. In cancer research, Matrigel® is the most widely used matrix, but it is hardly bioprinted pure, without the use of any other bioink as reinforcement. Its complex rheological behavior makes the control with a standard bioprinting process nearly impossible. In this work, we present a customized bioprinting strategy to produce pure Matrigel® scaffolds with good shape fidelity. To this aim, we realized a custom-made volumetric dispensing system and performed printability evaluations. To determine optimal printing parameters, we analyzed fibers spreading ratio on simple serpentines. After identifying an optimal flow rate of 86.68 ± 5.77 µL/min and a printing speed of 10 mm/min, we moved forward to evaluate printing accuracy, structural integrity and other key parameters on single and multi-layer grids. Results demonstrated that Matrigel® was able to maintain its structure in both simple and complex designs, as well as in single and multilayer structures, even if it does not possess high mechanical strength. In conclusion, the use of volumetric dispensing allowed printing pure Matrigel® constructs with a certain degree of shape fidelity on both single and multiple layers.

Cross-Linking Optimization for Electrospun Gelatin: Challenge of Preserving Fiber Topography.

Opportunely arranged micro/nano-scaled fibers represent an extremely attractive architecture for tissue engineering, as they offer an intrinsically porous structure, a high available surface, and an ideal microtopography for guiding cell migration. When fibers are made with naturally occurring polymers, matrices that closely mimic the architecture of the native extra-cellular matrix and offer specific chemical cues can be obtained. Along this track, electrospinning of collagen or gelatin is a typical and effective combination to easily prepare fibrous scaffolds with excellent properties in terms of biocompatibility and biomimicry, but an appropriate cross-linking strategy is required. Many common protocols involve the use of swelling solvents and can result in significant impairment of fibrous morphology and porosity. As a consequence, the efforts for processing gelatin into a fiber network can be vain, as a film-like morphology will be eventually presented to cells. However, this appears to be a frequently overlooked aspect. Here, the effect on fiber morphology of common cross-linking protocols was analyzed, and different strategies to improve the final morphology were evaluated (including alternative solvents, cross-linker concentration, mechanical constraint, and evaporation conditions). Finally, an optimized, fiber-preserving protocol based on carbodiimide (EDC) chemistry was defined.

Prediction of Opioid-Induced Respiratory Depression on Inpatient Wards Using Continuous Capnography and Oximetry: An International Prospective, Observational Trial.

BACKGROUND: Opioid-related adverse events are a serious problem in hospitalized patients. Little is known about patients who are likely to experience opioid-induced respiratory depression events on the general care floor and may benefit from improved monitoring and early intervention. The trial objective was to derive and validate a risk prediction tool for respiratory depression in patients receiving opioids, as detected by continuous pulse oximetry and capnography monitoring. METHODS: PRediction of Opioid-induced respiratory Depression In patients monitored by capnoGraphY (PRODIGY) was a prospective, observational trial of blinded continuous capnography and oximetry conducted at 16 sites in the United States, Europe, and Asia. Vital signs were intermittently monitored per standard of care. A total of 1335 patients receiving parenteral opioids and continuously monitored on the general care floor were included in the analysis. A respiratory depression episode was defined as respiratory rate ≤5 breaths/min (bpm), oxygen saturation ≤85%, or end-tidal carbon dioxide ≤15 or ≥60 mm Hg for ≥3 minutes; apnea episode lasting >30 seconds; or any respiratory opioid-related adverse event. A risk prediction tool was derived using a multivariable logistic regression model of 46 a priori defined risk factors with stepwise selection and was internally validated by bootstrapping. RESULTS: One or more respiratory depression episodes were detected in 614 (46%) of 1335 general care floor patients (43% male; mean age, 58 ± 14 years) continuously monitored for a median of 24 hours (interquartile range [IQR], 17-26). A multivariable respiratory depression prediction model with area under the curve of 0.740 was developed using 5 independent variables: age ≥60 (in decades), sex, opioid naivety, sleep disorders, and chronic heart failure. The PRODIGY risk prediction tool showed significant separation between patients with and without respiratory depression (P < .001) and an odds ratio of 6.07 (95% confidence interval [CI], 4.44-8.30; P < .001) between the high- and low-risk groups. Compared to patients without respiratory depression episodes, mean hospital length of stay was 3 days longer in patients with ≥1 respiratory depression episode (10.5 ± 10.8 vs 7.7 ± 7.8 days; P < .0001) identified using continuous oximetry and capnography monitoring. CONCLUSIONS: A PRODIGY risk prediction model, derived from continuous oximetry and capnography, accurately predicts respiratory depression episodes in patients receiving opioids on the general care floor. Implementation of the PRODIGY score to determine the need for continuous monitoring may be a first step to reduce the incidence and consequences of respiratory compromise in patients receiving opioids on the general care floor.

Real-life use of elbasvir/grazoprevir in adults and elderly patients: a prospective evaluation of comedications used in the PITER cohort.

BACKGROUND: In patients treated for HCV infection, potential drug-drug interactions (DDIs) can occur among direct-acting antiviral drugs (DAAs) and comedications used. The real-life effectiveness and safety of elbasvir/grazoprevir (ELB/GZR) among co-medicated HCV patients was evaluated. METHODS: We prospectively evaluated consecutive patients from 15 clinical centres participating in PITER who were treated with ELB/GZR and had been followed for at least 12 weeks after treatment. Data were prospectively collected on the use of comedications (including discontinuation, dose modification and addition of drugs) and potential DDIs with DAAs. RESULTS: Of the 356 patients with at least 12-week post-treatment follow-up (median age 67, range 50-88 years), 338 (95%) achieved sustained virological response. Of these, 219 (60%) had at least one comorbidity (median 2, range 1-6); information on comedication was available for 212 of them. Of 190 comedications used, 15 (8%) drugs were modified during ELB/GZR therapy, specifically in 9 (4%) patients they were interrupted, in 2 (1%) of whom, the comedication was interrupted before the DAA therapy because of potential DDI (that is, patients treated with carbamazepine); in 12 (6%) patients the comedications were modified in terms of dosage. In 29 (14%) patients, the comedications required monitoring when used with ELB/GZR, as well as with all available DAAs. Of the 190 drugs, 27 (14%) used in 67% of patients were free of DDIs when used with ELB/GZR, whereas they required monitoring if used with other DAA regimens. CONCLUSIONS: The results of this prospective study support findings that ELB/GZR is effective and safe in most treated patients.

Alexithymia Predicts Carotid Atherosclerosis, Vascular Events, and All-Cause Mortality in Human Immunodeficiency Virus-Infected Patients: An Italian Multisite Prospective Cohort Study.

BACKGROUND: Psychological factors (PFs) are known predictors of cardiovascular disease (CVD) in many clinical settings, but data are lacking for human immunodeficiency virus (HIV) infection. We carried out a prospective study to evaluate (1) psychological predictors of preclinical and clinical vascular disease and (2) all-cause mortality (ACM) in HIV patients. METHODS: We conducted a cross-sectional analysis of baseline data to evaluate the predictors of carotid plaques (CPs) and a prospective analysis to explore predictors of vascular events (VEs) and ACM over 10 years. Human immunodeficiency virus patients monitored at the Infectious Disease Units of 6 Italian regions were consecutively enrolled. Traditional CVD risk factors, PFs (depressive symptoms, alexithymia, distress personality), and CPs were investigated. Vascular events and ACM after enrollment were censored at March 2018. RESULTS: A multicenter cohort of 712 HIV-positive patients (75.3% males, aged 46.1 ± 10.1 years) was recruited. One hundred seventy-five (31.6%) patients had CPs at baseline. At the cross-sectional analysis, alexithymia was independently associated with CPs (odds ratio, 4.93; 95% confidence interval [CI], 2.90-8.50; P < .001), after adjustment for sociodemographic, clinical, and psychological variables. After an average follow-up of 4.4 ± 2.4 years, 54 (7.6%) patients developed a VE, whereas 41 (5.68%) died. Age, current smoking, hypertension, and alexithymia (hazard ratio [HR], 3.66; 95% CI, 1.80-7.44; P < .001) were independent predictors of VE. Likewise, alexithymia was an independent predictor of ACM (HR, 3.93; 95% CI, 1.65-9.0; P = .002), regardless of other clinical predictors. CONCLUSIONS: The present results validate our previous monocentric finding. Alexithymia may be an additional tool for the multifactorial assessment of cardiovascular risk in HIV.

Pilomatrixomas en niños: a propósito de 149 casos. Estudio retrospectivo en dos centros pediátricos / Pilomatrixomas in children: Report of 149 cases. A retrospective study at two children's hospitals

El pilomatrixoma es un tumor benigno cutáneo, de frecuente aparición en los niños, que se origina en las células de la matriz del folículo piloso. Se presenta como un nódulo o tumor, aproximadamente, de 0,5 a 3 cm de tamaño, de consistencia cálcica, de bordes facetados, con piel suprayacente eritematoazulada. En ocasiones, la piel puede atrofiarse, dar la apariencia de una ampolla e, incluso, extruir material cálcico. El diagnóstico se sospecha por la presentación clínica característica y los estudios de imágenes complementarios. El diagnóstico definitivo es por los hallazgos histológicos. La extirpación quirúrgica es el tratamiento de elección. Se presentan los datos epidemiológicos, clínicos, estudios complementarios y técnicas quirúrgicas empleadas de 149 pilomatrixomas resecados en 137 pacientes tratados en los Servicios de Dermatología de los hospitales de pediatría Dr. Pedro de Elizalde y Prof. Dr. Juan P. Garrahan.

A pilomatrixoma is a benign skin tumor common in children, which develops from the matrix cells of hair follicles. It presents as a nodule or tumor of approximately 0.5-3 cm in size, with calcium-like consistency, faceted edges, and blue erythematous overlying skin. Sometimes, the skin may atrophy and look like a blister or even extrude calcium. Diagnosis is suspected based on the typical clinical presentation and supplementary imaging tests. The definite diagnosis is made according to histological findings. Surgical removal is the treatment of choice. Here we describe the epidemiological and clinical data, supplementary tests, and surgical techniques in relation to 149 pilomatrixomas resected in 137 patients treated at the Departments of Dermatology of two children's hospitals: Dr. Pedro de Elizalde and Prof. Dr. Juan P. Garrahan.

Pilomatrixomas in children: Report of 149 cases. A retrospective study at two children's hospitals. / Pilomatrixomas en niños: a propósito de 149 casos. Estudio retrospectivo en dos centros pediátricos.

A pilomatrixoma is a benign skin tumor common in children, which develops from the matrix cells of hair follicles. It presents as a nodule or tumor of approximately 0.5-3 cm in size, with calcium-like consistency, faceted edges, and blue erythematous overlying skin. Sometimes, the skin may atrophy and look like a blister or even extrude calcium. Diagnosis is suspected based on the typical clinical presentation and supplementary imaging tests. The definite diagnosis is made according to histological findings. Surgical removal is the treatment of choice. Here we describe the epidemiological and clinical data, supplementary tests, and surgical techniques in relation to 149 pilomatrixomas resected in 137 patients treated at the Departments of Dermatology of two children's hospitals: Dr. Pedro de Elizalde and Prof. Dr. Juan P. Garrahan.

El pilomatrixoma es un tumor benigno cutáneo, de frecuente aparición en los niños, que se origina en las células de la matriz del folículo piloso. Se presenta como un nódulo o tumor, aproximadamente, de 0,5 a 3 cm de tamaño, de consistencia cálcica, de bordes facetados, con piel suprayacente eritematoazulada. En ocasiones, la piel puede atrofiarse, dar la apariencia de una ampolla e, incluso, extruir material cálcico. El diagnóstico se sospecha por la presentación clínica característica y los estudios de imágenes complementarios. El diagnóstico definitivo es por los hallazgos histológicos. La extirpación quirúrgica es el tratamiento de elección. Se presentan los datos epidemiológicos, clínicos, estudios complementarios y técnicas quirúrgicas empleadas de 149 pilomatrixomas resecados en 137 pacientes tratados en los Servicios de Dermatología de los hospitales de pediatría Dr. Pedro de Elizalde y Prof. Dr. Juan P. Garrahan.

Rosácea oculocutánea en un niño / Ocular and cutaneous rosacea in a child

La rosácea es una dermatosis crónica que se manifiesta clínicamente con eritema, telangiectasias, pápulas y pústulas en la parte central de la cara. Afecta, sobre todo, a los adultos y, en raras ocasiones, a los niños. La rosácea puede también presentar afección ocular y preceder, aparecer en forma simultánea o con posterioridad a las lesiones cutáneas; es mayor el riesgo de complicaciones oculares en los niños. La baja prevalencia de esta patología en la infancia origina demoras en el diagnóstico. Se presenta a un paciente de 1 año de edad con rosácea ocular y cutánea que desarrolló opacidades corneales con compromiso de la agudeza visual. Se destaca la importancia del diagnóstico y del tratamiento precoz para evitar el desarrollo de secuelas.

Rosacea is a chronic skin disease characterized by erythema, telangiectasia, papules and pustules in the central facial region. It most often affects adults and is rare in children. Rosacea can also present ocular involvement. Symptoms can precede cutaneous findings, appear simultaneously or after them, with a higher risk of ocular complications in children. Because of low prevalence of rosacea in childhood, the diagnosis is frequently delayed. We report a 1-year-old boy with ocular and cutaneous rosacea who developed corneal opacities and visual impairment. Early diagnosis and treatment is considerable to avoid sequels.

[Ocular and cutaneous rosacea in a child]. / Rosácea oculocutánea en un niño.

Rosacea is a chronic skin disease characterized by erythema, telangiectasia, papules and pustules in the central facial region. It most often affects adults and is rare in children. Rosacea can also present ocular involvement. Symptoms can precede cutaneous findings, appear simultaneously or after them, with a higher risk of ocular complications in children. Because of low prevalence of rosacea in childhood, the diagnosis is frequently delayed. We report a 1-year-old boy with ocular and cutaneous rosacea who developed corneal opacities and visual impairment. Early diagnosis and treatment is considerable to avoid sequels.

La rosácea es una dermatosis crónica que se manifiesta clínicamente con eritema, telangiectasias, pápulas y pústulas en la parte central de la cara. Afecta, sobre todo, a los adultos y, en raras ocasiones, a los niños. La rosácea puede también presentar afección ocular y preceder, aparecer en forma simultánea o con posterioridad a las lesiones cutáneas; es mayor el riesgo de complicaciones oculares en los niños. La baja prevalencia de esta patología en la infancia origina demoras en el diagnóstico. Se presenta a un paciente de 1 año de edad con rosácea ocular y cutánea que desarrolló opacidades corneales con compromiso de la agudeza visual. Se destaca la importancia del diagnóstico y del tratamiento precoz para evitar el desarrollo de secuelas.

Investigating the Optimal Baseline Positioning to Maximize Cognitive Experimental Outcome.

In emotional and cognitive research, the baseline is commonly used for standardization purposes in order to have a reference for the identification of the activation. Since no previous studies have investigated which moment of the experiment could be considered optimal for baseline evaluation, we designed an experimental protocol to analyze which time interval could be considered more effective in highlighting differences between the baseline state and the cognitive effort exhibited during tasks (specifically, reaction and working memory tasks). Several indexes were extracted from EEG signals during the visualization of the considered baseline stimuli and the execution of tasks. From our results, as regards to the considered Global Field Power (GFP) indexes (Attention and Memorization indexes), the last baseline stimulus seems to be the best one to highlight the difference in cognitive workload between the individual baseline condition and the two cognitive tasks. Instead, in terms of Engagement index (EI), the difference between Reaction Task (RT) and the individual baseline condition seems to be best highlighted by the relaxing video right after performed tasks. In conclusion, the best baseline position to maximize the differences in cognitive workload may vary among the considered indexes because of confounding effects and individual differences, but further analyses are required to validate this result.

Respiratory depression in low acuity hospital settings-Seeking answers from the PRODIGY trial.

Predicting episodes or severity of cardiorespiratory decompensation has proved to be challenging in patients with stable surgical or medical conditions, recovering on the general care floor (ward). Critical cardiorespiratory events on hospital floors may be prevented by early detection of deterioration using continuous, electronic cardiorespiratory monitoring (CEM). The PRediction of Opioid-induced Respiratory Depression In Patients Monitored by capnoGraphY (PRODIGY) trial investigates CEM using pulse oximetry and capnography in 1650 patients at 16 centers in North America, Europe, and Asia (ClinicalTrials.gov Identifier: NCT02811302). The primary goal of the study is to derive a risk prediction score for respiratory depression (RD) on the ward. The validation-derivation cohort design will derive this score from RD detected by continuous, blinded, multiparameter cardiorespiratory (heart rate, respiratory rate, end tidal carbon dioxide, and pulse oximetry) monitoring of patients on the ward receiving parenteral (including epidural) opioids for primary analgesia. This review provides a comprehensive synopsis on respiratory compromise in lower acuity hospital settings (ward) and describes the protocol of the PRODIGY trial as a means to enable prediction and early response to these events.

Author Correction: The scaffold protein p140Cap limits ERBB2-mediated breast cancer progression interfering with Rac GTPase-controlled circuitries.

This corrects the article DOI: 10.1038/ncomms14797.

Preliminary evaluation of the impact of a Web-based HIV testing programme in Abruzzo Region on the prevention of late HIV presentation and associated mortality.

OBJECTIVE: This study aimed to analyze the efficacy of a Web-based testing programme in terms of the prevention of late HIV presentation. The clinical characteristics of patients diagnosed with HIV via the Web-based testing programme were compared to those of patients diagnosed in parallel via standard diagnostic care procedures. METHODS: This study included the clinical and demographic data of newly diagnosed HIV patients enrolled at the study clinic between February 2014 and June 2017. These patients were diagnosed either via standard diagnostic procedures or as a result of the Web-based testing programme. RESULTS: Eighty-eight new cases of HIV were consecutively enrolled; their mean age was 39.1±13.0 years. Fifty-nine patients (67%) were diagnosed through standard diagnostic procedures and 29 (33%) patients came from the Web-based testing programme. Late presentation (62% vs. 34%, p=0.01) and AIDS-defining conditions at presentation (13 vs. 1, p=0.02) were significantly more frequent in the standard care group than in the Web-based group; four of 13 patients with AIDS diagnosed under standard diagnostic procedures died, versus none in the Web-based testing group (p<0.001). CONCLUSIONS: Web-based recruitment for voluntary and free HIV testing helped to diagnose patients with less advanced HIV disease and no risk of death, from all at-risk groups, in comparison with standard care testing.

Facomatosis pigmentovascular tipo cesioflammea: a propósito de un caso / Phakomatosis pigmentovascularis cesioflammea: a case report

La facomatosis pigmentovascular es un síndrome caracterizado por la coexistencia de malformación vascular capilar con una lesión pigmentada cutánea congénita (nevo epidérmico, nevo spilus o melanocitosis dérmica). Existen diversos grupos de facomatosis pigmentovascular que dependen del tipo de nevo asociado a la lesión vascular. Los pacientes pueden presentar solo la afección cutánea o tener manifestaciones sistémicas, entre ellas, traumatológicas, neurológicas y oftalmológicas. Se expone el caso de una niña de un año de edad, con antecedentes de glaucoma congénito. Además, presentaba parálisis facial, melanosis ocular bilateral, malformación vascular capilar en la hemicara al igual que en el hemicuerpo izquierdo y mancha mongólica aberrante en la región dorsal superior, la zona lumbosacra y ambos glúteos. Debido a las manifestaciones clínicas cutáneas, se diagnosticó facomatosis pigmentovascular y se solicitó una evaluación neurológica y traumatológica, además de continuar con controles oftalmológicos. Los estudios complementarios son importantes para detectar alteraciones extracutáneas, como se presentaron en esta paciente.

Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma. On examination, we identified facial paralysis, bilateral ocular melanosis, segmental capillary vascular malformation on the face as on left trunk and extremities, and aberrant Mongolian spots on the upper back, lumbosacral area and buttocks. Due to clinical manifestation, the diagnosis of PPV was made. The patient was evaluated by Neurology, Traumatology and keeps on with ophthalmological controls. Complementary studies are important, to rule out extracutaneous manifestations in PPV.