Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition.

BACKGROUND/OBJECTIVES: Cutis marmorata telangiectatica congenita (CMTC) is a capillary malformation characterized by congenital, reticulated, well-demarcated dark blue, red-purple, or violaceous macules or plaques, with a coarse fixed livedo pattern. Nearly always, contiguous areas of skin atrophy and/or ulceration are present. CMTC is usually localized but may rarely be generalized. Such generalized cases may be a feature of Adams-Oliver syndrome (AOS). The nosologic confusion surrounding the term CMTC and uncertainty about the risk of associated abnormalities hinders the appropriate workup of patients and prognostic counseling for families. We hypothesized that the risk of associated anomalies in children with localized CMTC is very low. METHODS: We performed a literature review and retrospective review of patients with CMTC to propose a more precise clinical definition and ascertain the risk of associated anomalies. RESULTS: We included 78 patients determined to have a diagnosis of CMTC based on consensus. The majority of patients had localized CMTC. Most patients with generalized CMTC met the criteria for the diagnosis of AOS. The associations found in patients with localized CMTC were mostly dermatological, with atrophy, ulcerations, or erosions present in 71%. Extracutaneous findings were present in 34.4% of patients and consisted mainly of extremity asymmetry (24.5%) that improved over time. CONCLUSION: Our study showed a very low frequency of extracutaneous anomalies among patients with localized CTMC, ipsilateral limb discrepancy being the most common. We did not find a strong association with any other visceral anomalies that would justify routine evaluation in patients with localized CMTC.

Atrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivation.

We report the case of a 10-month-old girl who presented with failure to thrive and multiple small atrophic violaceous plaques, with no other findings on her physical examination. The laboratory examinations, abdominal ultrasound and bilateral hand radiography performed were unremarkable. The skin biopsy revealed fusiform cells and focal ossification in the deep dermis. The genetic study showed a pathogenic variant of GNAS.

[Neurofibromas in Type I Neurofibromatosis. Description of a clinical case and literature review]. / Neurofibromas en la Neurofibromatosis tipo I. Descripción de caso clínico y revisión de la literatura.

Neurofibromatosis type 1 (NF1) is the most frequent genodermatosis. Its cutaneous findings are key for early diagnosis, as they usually appear at early age. Café-au-lait macules are the most known cutaneous findings. Neurofibromas are the most frequent cutaneous tumors in patients with NF1, showing multiple clinical manifestations. They are classified as superficial and deep lesions, and su perficial neurofibromas are subdivided in cutaneous or subcutaneous. Some neurofibromas may be present since birth; however, most appear during adolescence. Neurofibromas constitute 2 out of 7 of the NIH criteria of Neurofibromatosis type 1. Most of them are benign, do not require treatment and their recognition allows an early diagnosis of the disease. OBJECTIVE: To describe and classify neu rofibromas associated with NF1 through a clinical case. CLINICAL CASE: 18-year-old male diagnosed since childhood with NF1 presents with multiple oval nodules on his face, occipital area, and wrist, multiple blue-red macules on his back and an asymptomatic pink plaque in his thigh. Ultrasound of the nodules was suggestive of neurofibromas and a skin biopsy of the lesions in the back and thigh were consistent with cutaneous neurofibromas. CONCLUSION: This case illustrates the varied clinical manifestations of neurofibromas in adolescence. Recognition of neurofibromas by the pediatrician, pediatric neurologist and/or dermatologist is crucial for the early diagnosis of NF1.

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.

Síndrome de CLOVES: tratamiento con rapamicina oral: reporte de dos casos / CLOVES syndrome: treatment with oral rapamycin: report of two cases

INTRODUCCIÓN: El síndrome de CLOVES se caracteriza por sobrecrecimiento lipomatoso asociado a malformaciones vasculares, representando un desafío diagnóstico y terapéutico. La rapamicina, un inhibidor de la vía mTOR, ha demostrado ser una buena alternativa terapéutica en un grupo de anomalías vasculares. Reportamos dos casos de síndrome de CLOVES con buena respuesta al tratamiento con rapamicina oral. OBJETIVO: Reportar la experiencia del uso de rapamicina oral en el tratamiento de dos pacientes con síndrome de CLOVES. CASOS CLÍNICOS: Caso 1: preescolar femenino de tres años de edad con sín drome de CLOVES e historia de hospitalizaciones reiteradas por infección severa de malformaciones linfáticas macroquísticas y episodios trombóticos. Evoluciona con mala calidad de vida, múltiples hospitalizaciones, riesgo quirúrgico y progresión de las lesiones, por lo que se indicó rapamicina oral. A los 6 meses de tratamiento se evidenció reducción clínica y radiológica del tamaño de las masas lipomatosas y linfáticas, ausencia de linforrea cutánea y mejoría significativa de la calidad de vida, sin requerir nuevas hospitalizaciones. Caso 2: escolar femenino de diez años de edad, portadora de síndrome de CLOVES, que desarrolló escoliosis y deterioro de su capacidad motora, haciéndose dependiente del uso de silla de ruedas. Se indicó rapamicina oral, evidenciándose a los cuatro meses de tratamiento mejoría en su capacidad física, independencia y autovalencia, con desaparición de la linforrea. CONCLUSIÓN: Proponemos la rapamicina oral para el tratamiento de pacientes con sín drome de CLOVES que presenten complicaciones y deterioro de la calidad de vida producto de su enfermedad.

INTRODUCTION: CLOVES syndrome is characterized by lipomatous overgrowth associated with vascular malforma tions, representing a diagnostic and a therapeutic challenge. Rapamycin, an mTOR inhibitor, has proved to be a good therapeutic option in some vascular anomalies. In this article, we report two ca ses of CLOVES syndrome with good response to oral rapamycin treatment. OBJECTIVE: To report the outcome of two patients with CLOVES syndrome treated with oral rapamycin. CLINICAL CASES: Case 1: A three-year-old female preschooler with CLOVES syndrome and history of repeated hospita lizations due to severe infections resulting from macrocystic lymphatic malformations and due to thrombotic episodes. The patient evolved with poor quality of life, multiple hospitalizations, surgical risk and progression of the lesions, therefore, oral rapamycin was indicated. After six months of treatment, clinical and radiological reduction in the size of the lipomatous and lymphatic masses, cutaneous lymphorrhea absence and a significant improvement of her quality of life were observed, without requiring new hospitalizations. Case 2: a ten-year-old female schooler with CLOVES syndro me, who developed scoliosis and deterioration of her motor skills, becoming wheelchair-dependent. Oral rapamycin was indicated, showing improvement in her physical capacity, independence and au tonomy, and absence of lymphorrhea after four months of treatment. CONCLUSION: We propose oral rapamycin for the treatment of patients with CLOVES syndrome who present with complications and deterioration in the quality of life as a result of the disease.

Symplastic hemangioma developing over an infantile hemangioma during propranolol treatment.

We describe a case of a 6-month-old female patient with a segmental, superficial, infantile hemangioma (IH) on the forehead being treated with propranolol 2 mg/kg/d for 5 months, who developed a symplastic hemangioma (SH) over the preexisting lesion, highlighting the need to consider SH in the differential diagnosis of vascular lesions arising over preexisting vascular anomalies in children.

Molluscum contagiosum: an update and review of new perspectives in etiology, diagnosis, and treatment.

Molluscum contagiosum (MC) is a self-limited infectious dermatosis, frequent in pediatric population, sexually active adults, and immunocompromised individuals. It is caused by molluscum contagiosum virus (MCV) which is a virus of the Poxviridae family. MCV is transmitted mainly by direct contact with infected skin, which can be sexual, non-sexual, or autoinoculation. Clinically, MC presents as firm rounded papules, pink or skin-colored, with a shiny and umbilicated surface. The duration of the lesions is variable, but in most cases, they are self-limited in a period of 6-9 months. The skin lesions may vary in size, shape, and location, which is more frequent in immunosuppressed patients, and could present complications such as eczema and bacterial superinfection. The diagnosis is based on clinical findings. A useful clinical tool is dermoscopy. If the diagnostic doubt persists, confocal microscopy or skin biopsy could be performed. The need for active treatment for MC is controversial; however, there is a consensus that it should be indicated in cases of extensive disease, associated with complications or aesthetic complaints. There are several treatment modalities which include mechanical, chemical, immunomodulatory, and antivirals. The objective of this article is to review the current evidence in etiology, clinical manifestations, diagnosis, and management alternatives of MC.

CLOVES syndrome: Treatment with oral Rapamycin. Report of two cases. / Síndrome de CLOVES: Tratamiento con Rapamicina oral. Reporte de dos casos.

INTRODUCTION: CLOVES syndrome is characterized by lipomatous overgrowth associated with vascular malforma tions, representing a diagnostic and a therapeutic challenge. Rapamycin, an mTOR inhibitor, has proved to be a good therapeutic option in some vascular anomalies. In this article, we report two ca ses of CLOVES syndrome with good response to oral rapamycin treatment. OBJECTIVE: To report the outcome of two patients with CLOVES syndrome treated with oral rapamycin. CLINICAL CASES: Case 1: A three-year-old female preschooler with CLOVES syndrome and history of repeated hospita lizations due to severe infections resulting from macrocystic lymphatic malformations and due to thrombotic episodes. The patient evolved with poor quality of life, multiple hospitalizations, surgical risk and progression of the lesions, therefore, oral rapamycin was indicated. After six months of treatment, clinical and radiological reduction in the size of the lipomatous and lymphatic masses, cutaneous lymphorrhea absence and a significant improvement of her quality of life were observed, without requiring new hospitalizations. Case 2: a ten-year-old female schooler with CLOVES syndro me, who developed scoliosis and deterioration of her motor skills, becoming wheelchair-dependent. Oral rapamycin was indicated, showing improvement in her physical capacity, independence and au tonomy, and absence of lymphorrhea after four months of treatment. CONCLUSION: We propose oral rapamycin for the treatment of patients with CLOVES syndrome who present with complications and deterioration in the quality of life as a result of the disease.

[Experience in visceral cutaneous and cutaneous loxoscelism of hospital management: clinical, evolution and therapeutic proposal]. / Experiencia en loxoscelismo cutáneo y cutáneo visceral de manejo hospitalario: clínica, evolución y propuesta terapéutica.

BACKGROUND: Loxoscelism is a common pathology in our environment with a broad spectrum of differential diagnoses and presentations, with potentially serious complications, even to the point of death. To date, there is no standard treatment for these patients. AIM: To describe the clinical manifestations, main complications, therapeutic management, and evolution of loxoscelism in an inpatient setting from a tertiary hospital in Chile. METHODS: All patients consulting and hospitalized in the hospital of the Pontificia Universidad Católica de Chile with diagnosis of loxoscelism between 2014 to 2017 and evaluated by dermatologist were included. Review of clinical files, including symptoms, images, laboratory parameters and treatment. RESULTS: We evaluated seventeen inpatient with loxoscelism, whose presentation responds to the national epidemiological pattern. Most cases were managed with antibiotics, systemic corticosteroids, antihistamines, and dapsone. From these, 11.8% corresponded to viscerocutaneous loxoscelism, successfully managed with supportive measures, systemic corticosteroids and antihistamines. Fifty-nine percent healed their cutaneous lesions after one month of treatment, with slight residual scarring or post inflammatory hyperpigmentation, without associated mortality in our series. DISCUSSION: Most cases of cutaneous loxoscelism presented excellent response and rapid resolution of the disease after combined therapy with systemic corticosteroids, antibiotics and dapsone, suggesting that the use of these therapies could stop the progression of cutaneous necrosis and prevent complications associated with loxoscelism.

Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome.

Characteristic lower lip capillary malformation of CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformations of the face and neck, Asymmetry, and Partial or generalized Overgrowth) may also occur as an isolated lesion or with only minor anomalies, supporting the concept that there is a spectrum of abnormalities in CLAPO syndrome. Preliminary studies have demonstrated mosaic activating mutations in PIK3CA.

Experiencia en loxoscelismo cutáneo y cutáneo visceral de manejo hospitalario: clínica, evolución y propuesta terapéutica / Experience in visceral cutaneous and cutaneous loxoscelism of hospital management: clinical, evolution and therapeutic proposal

Resumen Introducción: El loxoscelismo es una patología frecuente en nuestro medio con un amplio espectro de presentaciones y diagnósticos diferenciales, con complicaciones potencialmente graves, e incluso con riesgo de muerte. A la fecha no existe un tratamiento estándar para estos pacientes. Objetivo: Describir las manifestaciones clínicas, principales complicaciones, manejo terapéutico y evolución de pacientes internados por loxoscelismo en un hospital terciario en Chile. Pacientes y Método: Se analizaron todos los pacientes consultantes e internados por loxoscelismo en el Hospital Clínico de la Pontificia Universidad Católica de Chile entre los años 2014 y 2017, evaluados en interconsulta por Dermatología. Revisión de los registros clínicos incluyendo semiología, imágenes, informes de laboratorio y tratamientos efectuados. Resultados: Se registraron 17 casos de loxoscelismo de manejo hospitalario, cuya presentación responde al patrón epidemiológico nacional. La mayoría de los casos fue manejada con antimicrobianos, corticosteroides sistémicos, antihistamínicos y dapsona. De ellos, 11,8% correspondieron a loxoscelismo cutáneo visceral, manejados exitosamente con medidas de soporte, corticosteroides sistémicos y antihistamínicos. El 59% presentó resolución de las lesiones al mes de tratamiento, con cicatriz residual leve o hiperpigmentación postinflamatoria, sin mortalidad en nuestra serie. Discusión: La mayoría de los casos de loxoscelismo cutáneo presentó excelente respuesta y rápida resolución del cuadro tras el tratamiento asociado de corticosteroides sistémicos, antimicrobianos y dapsona, sugiriendo que el uso de estas terapias podría detener la progresión de la necrosis cutánea y prevenir las complicaciones asociadas al loxoscelismo.

Background: Loxoscelism is a common pathology in our environment with a broad spectrum of differential diagnoses and presentations, with potentially serious complications, even to the point of death. To date, there is no standard treatment for these patients. Aim: To describe the clinical manifestations, main complications, therapeutic management, and evolution of loxoscelism in an inpatient setting from a tertiary hospital in Chile. Methods: All patients consulting and hospitalized in the hospital of the Pontificia Universidad Católica de Chile with diagnosis of loxoscelism between 2014 to 2017 and evaluated by dermatologist were included. Review of clinical files, including symptoms, images, laboratory parameters and treatment. Results: We evaluated seventeen inpatient with loxoscelism, whose presentation responds to the national epidemiological pattern. Most cases were managed with antibiotics, systemic corticosteroids, antihistamines, and dapsone. From these, 11.8% corresponded to viscerocutaneous loxoscelism, successfully managed with supportive measures, systemic corticosteroids and antihistamines. Fifty-nine percent healed their cutaneous lesions after one month of treatment, with slight residual scarring or post inflammatory hyperpigmentation, without associated mortality in our series. Discussion: Most cases of cutaneous loxoscelism presented excellent response and rapid resolution of the disease after combined therapy with systemic corticosteroids, antibiotics and dapsone, suggesting that the use of these therapies could stop the progression of cutaneous necrosis and prevent complications associated with loxoscelism.

Variables clínicas, de laboratorio e histopatológicas en Síndrome de hipersensibilidad o erupción por drogas con eosinofilia y síntomas sistémicos (DRESS) / Drug reaction with eosinophilia and systemic symptoms (DRESS)

INTRODUCCIÓN: La reacción a drogas con eosinofilia y síntomas sistémicos (DRESS) es una rara enfermedad que puede ser letal. OBJETIVOS: Describir los hallazgos clínicos, de laboratorio e histopatológicos en pacientes con DRESS. MATERIALES Y MÉTODOS: Estudio retrospectivo de fichas clínicas de pacientes con DRESS entre los años 2007 y 2017 con score regiSCAR mayor o igual a caso probable. RESULTADOS: Se estudiaron 24 pacientes: 14 fueron mujeres (58,3%), 2 tuvieron enfermedad autoinmune (8,3%), la edad promedio fue 45,04 años DS 17,2 (16-78). Los medicamentos frecuentemente implicados fueron Lamotrigina (33,3%) y Carbamazepina (20,8%). La latencia fue 28 días DS 17,7 (10-90). La clínica más frecuente fue prurito 87,5%, fiebre 75%, edema facial 62,5% y adenopatías 45,8%. En laboratorio lo más alterado fueron pruebas hepáticas (70,8%) y eosinofilia (45,8%). 11 pacientes (45,8%) presentaron eosinófilos en la histopatología y 21 pacientes (87,5%) fueron tratados con corticoides. La mortalidad fue 11,1% (2 pacientes, por causas distintas a DRESS). DISCUSIÓN: DRESS es una reacción adversa a medicamentos severa con variados hallazgos clínicos y analíticos que requieren de su conocimiento para no retrasar el diagnóstico y su tratamiento.

INTRODUCCIÓN: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare disease that can be lethal. OBJECTIVE: To describe the clinical, laboratory and histopathological findings in patients with DRESS. MATERIALS AND METHODS: Retrospective study of clinical records of patients with DRESS between 2007 and 2017 with RegiSCAR score greater than or equal to probable case. RESULTS: 24 patients were studied: 14 were women (58.3%), 2 had autoimmune diseases (8.3%), the average age was 45.04 ± 17.2 years (16-78). The medications frequently implicated were Lamotrigine (33.3%) and Carbamazepine (20.8%). The latency was 28 ± 17.7 days (10-90). The most frequent symptoms were 87.5% pruritus, fever 75%, facial edema 62.5% and lymphadenopathies 45.8%. In the laboratory, the most disturbed were liver tests (70.8%) and eosinophilia (45.8%). 11 patients (45.8%) presented eosino-phils in histopathology and 21 patients (87.5%) were treated with corticosteroids. Mortality was 11.1% (2 patients) due to other causes than DRESS. DISCUSSION: DRESS is an adverse reaction to severe medications with a varied clinical and la-boratory finding, requiring knowledge in order to not to delay diagnosis and treatment.Key words: DRESS; Eosinophilia; ADR, Drug rash

[Urticaria pigmentosa: clinical and therapeutic aspects for the paediatrician]. / Urticaria pigmentosa: aspectos clínicos y terapéuticos para el pediatra.

Urticaria pigmentosa, also known as maculopapular mastocytosis, is the most common type of paediatric mastocytosis. It presents with yellow to brown macules or papules, usually located on trunk and extremities. Regarding its diagnostic and therapeutic implications, the objective of this article is to serve as an update for the paediatrician on the most relevant aspects of this pathology.

La urticaria pigmentosa, también conocida como mastocitosis maculopapular, es el tipo de mastocitosis más común en la edad pediátrica. Se presenta con máculas o pápulas de color amarillo-marrón, usualmente localizadas en el tronco y las extremidades. Considerando sus implicancias diagnósticas y terapéuticas, el objetivo de este artículo es brindar al pediatra una actualización de los aspectos más relevantes de esta patología.

Agminated Fibroblastic Conective Tissue Nevus: A New Clinical Presentation.

Connective tissue nevi are benign hamartomatous lesions in which one or several of the components of the dermis (collagen, elastin, glicosaminoglycans) show predominance or depletion. Recently, de Feraudy et al broadened the spectrum of connective tissue nevus, describing fibroblastic connective tissue nevus (FCTN), which is characterized by proliferation of CD34(+) cells of fibroblastic and myofibroblastic lineage. Only solitary papules and nodules have been described. We present the first case of FCTN with multiple agminated lesions on the leg of an infant and the difficulties encountered in the differential diagnosis with dermatofibrosarcoma protuberans.

Progression of drug exanthemas to serious drug eruptions: A retrospective review identifying early determinants.

BACKGROUND/OBJECTIVES: Maculo-papular drug exanthema (MPE) is the most common type of cutaneous adverse drug reaction (CAR). Exanthematous macules and papules may also be the initial presentation of severe CAR (SCAR). We aimed to identify characteristics associated with the diagnosis of SCAR in CAR-hospitalised patients. METHODS: This cross-sectional study was performed in a tertiary hospital in Chile. All CAR patients who were initially evaluated for exanthematous macules and papules were assessed for clinical, laboratory and pathological variables and these were contrasted with MPE or SCAR diagnosis at discharge. RESULTS: We enrolled 86 patients, of whom 25 (29%) had an at-discharge diagnosis of SCAR. SCAR patients were younger and the latency (time from starting drug to development of first skin lesions) was longer than in MPE patients: 43.6 ± 18.7 years versus 54.0 ± 21.8 years (P = 0.039) and 14 days; range 1 to 35, versus 7 days; range 1 to 45 (P = 0.001). The presence of cutaneous pain (OR 7.4 95% CI 1.3-41), mucosal involvement (OR 9.5 CI 95% 2.6- 34.5) and anticonvulsant use (OR 6.11 95% CI 1.91-19.53) were significantly associated with SCAR at discharge. Antibiotics use was significantly associated with MPE diagnosis (OR 2.8 95% CI 1.1-7.6). These six variables together explain 45% of the risk of having SCAR (R2 = 0.449). None of the early laboratory or pathological variables was associated with SCAR. CONCLUSIONS: In hospitalised patients assessed for exanthematous macules and papules, the evaluation of these clinical features may aid in the early identification of SCAR cases.