Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software / Reduções volumétricas cerebrais da síndrome de Sjogren-Larsson demonstradas com um software automatizado

Abstract Background Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (ALDH3A2), clinically characterized by ichthyosis, spastic diplegia, and cognitive impairment. Brain imaging plays an essential role in the diagnosis, demonstrating a nonspecific leukoencephalopathy. Data regarding brain atrophy and grey matter involvement is scarce and discordant. Objective We performed a volumetric analysis of the brain of two siblings with SLS with the aim of detecting deep grey matter nuclei, cerebellar grey matter, and brainstem volume reduction in these patients. Methods Volume data obtained from the brain magnetic resonance imaging (MRI) of the two patients using an automated segmentation software (Freesurfer) was compared with the volumes of a healthy control group. Results Statistically significant volume reduction was found in the cerebellum cortex, the brainstem, the thalamus, and the pallidum nuclei. Conclusion Volume reduction in grey matter leads to the hypothesis that SLS is not a pure leukoencephalopathy. Grey matter structures affected in the present study suggest a dysfunction more prominent in the thalamic motor pathways.

Resumo Antecedentes A Síndrome de Sjogren-Larsson (SSL) é uma doença neurocutânea de herança autossômica recessiva, causada por mutações no gene que codifica a aldeído graxo desidrogenase (ALDH3A2), caracterizada clinicamente por ictiose, diplegia espástica e comprometimento cognitivo. A imagiologia cerebral desempenha um papel essencial no diagnóstico, demonstrando uma leucoencefalopatia inespecífica. Dados sobre atrofia cerebral e envolvimento da substância cinzenta são escassos e discordantes. Objetivo Realizamos uma análise volumétrica do cérebro de dois irmãos com SLS com o objetivo de detectar núcleos profundos de substância cinzenta, substância cerebral cinzenta e redução do volume do tronco encefálico nestes pacientes. Métodos Os dados de volume obtidos da ressonância magnética (RM) cerebral dos dois pacientes usando um software de segmentação automática (Freesurfer) foram comparados com os volumes de um grupo controle saudável. Resultados Redução de volume estatisticamente significativa foi encontrada no córtex do cerebelo, no tronco cerebral, no tálamo e nos núcleos pálidos. Conclusão A redução do volume da substância cinzenta leva à hipótese de que a SSL não é uma leucoencefalopatia pura. As estruturas da substância cinzenta afetadas no presente estudo sugerem uma disfunção mais proeminente nas vias motoras talâmicas.

Therapeutic effect of sural neurocutaneous flap combined with antibiotic-impregnated calcium sulfate and autologous iliac bone graft of chronic calcaneal osteomyelitis / 国际外科学杂志

Objective:To analyze the therapeutic effect of sural neurocutaneous flap combined with antibiotic-impregnated calcium sulfate and autogenous iliac bone graft of chronic calcaneal osteomyelitis.Methods:A retrospective analysis was peformed in 29 patients with chronic calcaneal osteomyelitis treated with sural neurocutaneous flap combined with antibiotic-impregnated calcium sulfate and autogenous iliac bone graft in the Xi′an Honghui Hospital Affiliated to Xi′an Jiaotong University from April 2013 to January 2020. There were 19 males and 10 females, with the age of (45.38±12.85) years, ranged from 22 to 67 years. The course of disease was (16.00±6.96) months, ranged from 6 to 36 months. The skin defect area was (41.9±15.9) cm 2, ranged from 11.8 to 86.8 cm 2. The causes of injury: 18 cases of high fall, 6 cases of traffic accidents, 3 cases of heavy rolling, the remaining 2 cases were machine strangulation and sharp stab wounds. The inflammatory markers [white blood cell (WBC), erythrocyte sedimentation rate (ESR), procalcitonin (PCT), C reactive protein (CRP)] and bone healing time were recorded before operation, 2, 4, 8 weeks and 6 months after operation. During the follow-up period, the flap texture, survival were observed, and the ankle-posterior foot function recovery was evaluated by the American Association of Foot and Ankle Surgery (AOFAS) score were observed before and after the operation, and the incidence of complications were recorded. The measurement data were expressed as mean±standard deviation ( ± s), and the t-test was used for inter-group comparison; the levels of WBC, ESR, PCT and CRP at different time points before and after operation were compared by repeated measurement ANOVA, and the LSD t-test was used for pairwise comparison. Results:All the 29 patients were followed up for (14.51±6.10) months, ranged from 6 to 30 months. All the flaps survived without abrasion, ulceration, or skin protrusion, and all patients could walk normally with shoes. There were 28 cases of stage I bone healing, with an average of (5.87±2.07) months, ranged from 3 to 12 months. The inflammatory indexes was significantly decreased at different time points after operation ( P<0.05). There was no significant difference between 6 months and 8 weeks after operation ( P>0.05), while there was significant difference at other time points ( P<0.05). The ankle-posterior foot score of AOFAS at 6 months after treatment was significantly higher than that before treatment (83.44±7.93 vs 55.37±8.07), the differences was statistically significant ( P<0.05). The clinical efficacy of foot function recovery was excellent in 12 cases, good in 15 cases and fair in 2 cases among 29 patients .The excellent and good rate was 93.1% (27/29). One patient recurred 1 month after operation and was re-implanted with antibiotic-loaded calcium sulfate mixed autogenous iliac bone after debridement, no recurrence was found. The total complication rate was 31.0%, but there was no significant impact on the patient's life in the later period. All patients returned to daily life and work. Conclusion:The treatment of chronic calcaneal osteomyelitis with sural neurocutaneous flap combined with antibiotic-impregnated calcium sulfate and autogenous iliac bone graft can effectively control infection, reconstruct calcaneal and soft tissue structure, promote functional recovery of affected limb, and ultimately improve the patient′s quality of life.

Sebaceous nevus of Jadassohn: review and clinical-surgical approach

Abstract Background: Nevus sebaceous of Jadassohn is defined as a rare congenital malformation characterized as a non-hereditary hamartoma of the adnexal structures of the skin. Its etiology is not yet well understood, but it is believed to be related to post-zygotic mutations in the HRAS, NRAS and KRAS genes. Objective: To describe the clinical manifestation of nevus sebaceous, as well as the main management techniques addressed in the medical literature. Moreover, the present study discusses a case report of a congenital linear nevus in the left retroauricular region found in a male patient, without extracutaneous manifestations. Method: A narrative review of the literature was carried out. Discussion: Nevus sebaceous occurs as lesions with a linear or oval appearance, with a smooth or verrucous texture, generally alopecic and with very variable color. Moreover, nevus sebaceous is one of the components of the so-called linear nevus syndrome or Schimmelpenning-Feuerstein-Mims syndrome, which is associated with multisystemic complications. The treatment of the lesions is still controversial; however, most experts indicate surgical excision as the most frequently adopted treatment method, in addition to multidisciplinary follow-up when the diagnosis of Schimmelpenning-Feuerstein-Mims syndrome is established. Conclusion: The linear nevus syndrome constitutes a rare manifestation; however, its diagnosis should be considered in children born with nevus sebaceous. There is no consensus yet on the best therapy, but surgical removal has shown to be a viable option.

Melanosis neurocutánea: reporte de un caso y revisión de la literatura / Neurocutaneous melanosis. Case report and literature review / Melanose neurocutânea: relato de caso e revisão da literatura

RESUMEN Introducción: la melanosis neurocutánea es un trastorno congénito no hereditario que se caracteriza por la asociación de nevus pigmentados múltiples o de gran tamaño y una excesiva proliferación de melanocitos en el sistema nervioso central. La incidencia es similar en ambos sexos, y se observa historia familiar de melanoma en un único caso. Presentación del caso: se trata de un neonato masculino que nace en Hospital General de Luanda en Angola, con mancha melánica gigante que se extiende desde el cuello, cara, tórax, abdomen, espalda y miembros superiores, requiere una vigilancia de las lesiones dérmicas y un control de las crisis convulsivas. Discusión: se realizaron revisiones de la literatura médica disponible sobre el tema, consultando el programa de genética Oxford, y se tomaron fotos de las características clínicas sobresalientes. Por lo general los síntomas neurológicos son de temprana aparición en la etapa neonatal o de lactante con presencia de convulsiones de difícil control, al crear un pronóstico reservado. Conclusiones: se considera importante el seguimiento del neurodesarrollo de forma multidisciplinario para intervención oportuna si fuera necesario.

ABSTRACT Introduction: neurocutaneous melanosis is a non-hereditary congenital disorder characterized by the association of multiple or large pigmented nevi and an excessive proliferation of melanocytes in the central nervous system. The incidence is similar in both sexes, and a family history of melanoma is observed in a single case. Case presentation: this is a male neonate born at the General Hospital of Luanda in Angola, with a giant melanic spot that extends from the neck, face, chest, abdomen, back and upper limbs, requires surveillance of dermal lesions and control of seizures. Discussion: reviews of the available medical literature on the subject were conducted, consulting the Oxford genetics program, and photos of outstanding clinical features were taken. Usually the neurological symptoms are of early onset in the neonatal or infant stage with the presence of seizures that are difficult to control, creating a reserved prognosis. Conclusions: it is considered important to monitor neurodevelopment in a multidisciplinary way for timely intervention if necessary.

RESUMO Introdução: a melanose neurocutânea é uma doença congênita não hereditária caracterizada pela associação de nevi pigmentado múltiplo ou grande e uma proliferação excessiva de melanócitos no sistema nervoso central. A incidência é semelhante em ambos os sexos, e um histórico familiar de melanoma é observado em um único caso. Apresentação do caso: trata-se de um recém-nascido no Hospital Geral de Luanda, em Angola, com um ponto melanico gigante que se estende do pescoço, rosto, tórax, abdômen, costas e membros superiores, requer vigilância de lesões dérmicas e controle de convulsões. Discussão: foram realizadas revisões da literatura médica disponível sobre o tema, consultando o programa de genética de Oxford e fotos de características clínicas de destaque. Geralmente os sintomas neurológicos são de início precoce no estágio neonatal ou infantil com a presença de convulsões de difícil controle, criando um prognóstico reservado. Conclusões: é considerado importante monitorar o neurodesenvolvimento de forma multidisciplinar para intervenção oportuna, se necessário.

COMPLEJO ESCLEROSIS TUBEROSA: a propósito de un caso clínico / TUBEROUS SCLEROSIS COMPLEX: about a clinical case

RESUMEN El Complejo Esclerosis Tuberosa (CET) es un síndrome neurocutáneo multisistémico que pertenece al grupo de las genodermatosis, de transmisión de herencia autosómica dominante con alta penetrancia y muy variable expresividad fenotípica. Es producido por mutaciones en los genes TSC1 y TSC2. Se caracteriza por la triada de epilepsia, retraso madurativo y angiofibromas. El diagnóstico es clínico y consiste en ensamblar los signos clínicos identificados, con los criterios diagnósticos consensuados de criterios principales y secundarios. Presentamos un paciente adulto con antecedentes de retraso madurativo y epilepsia desde la infancia en tratamiento y seguimiento por neurología desde entonces; y antecedentes familiares de síndrome convulsivo en sus hermanos, a quien se le realiza diagnóstico tardío de CET al momento de la consulta, cumpliendo con los criterios para el mismo.

ABSTRACT Tuberous Sclerosis Complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome with almost complete penetrance but variable expressivity. This genodermatosis occurs upon mutation of TSC1 and TSC2 genes. It is characterized by the classic triad of seizures, mental retardation and cutaneous angiofibromas. The diagnosis of TSC is based by the presence of major and minor criteria. We report the case of an adult male patient with personal history of mental retardation in addition with personal and family history of seizures since childhood.

Melanocytic lesions of the central nervous system: a case series / Lesiones melanocíticas del sistema nervioso central: una serie de casos

ABSTRACT Background: Melanocytic lesions of the central nervous system (CNS) are an infrequent, broad and diverse group of entities, both benign and malignant, found in all age groups, with imaging findings ranging from well-circumscribed focal lesions to diffuse leptomeningeal involvement. On MRI, they are usually distinguished by a high signal on T1WI sequences, given the paramagnetic effect of melanin, thus making it difficult to differentiate among them. Objective: To describe the imaging and epidemiological characteristics of a retrospective series of CNS melanocytic lesions. Methods: MR images of 23 patients with CNS melanocytic lesions diagnosed between January 2012 and June 2018 were analyzed. Results: Most patients were female (14/23; 61%), with a median age of 47 years (range: 3 weeks to 72 years). The primary melanocytic lesions accounted for 8/19 cases (42.1%), which included neurocutaneous melanosis, meningeal melanocytomas and primary malignant melanomas. Secondary melanocytic lesions (metastatic) accounted for 10/19 cases (52.6%). There was one case of a tumor with secondary melanization, from a melanocytic neuroectodermal tumor of infancy. There were also four cases of primary ocular melanomas. The most frequent findings were the cerebral location, high T1WI signal and marked contrast-enhancement. Conclusions: The present review describes the wide variety of melanocytic lesions that could affect the CNS, emphasizing the MRI characteristics. Knowledge of the imaging, clinical and epidemiological characteristics of CNS melanocytic lesions is essential for their correct interpretation, given the significant overlap between lesion features and the variable prognosis.

RESUMEN Antecedentes: Las lesiones melanocíticas del sistema nervioso central (SNC) corresponden a un grupo infrecuente, amplio y diverso de entidades, tanto benignas como malignas, encontradas en todos los grupos etarios, con hallazgos imagenológicos que van desde lesiones focales bien circunscritas hasta un compromiso leptomeníngeo difuso. A la RM se distinguen por la alta señal en la secuencia T1WI, dado el efecto paramagnético de la melanina, haciendo difícil la diferenciación entre ellas. Objetivo: Describir las características epidemiológicas y de de una serie retrospectiva de lesiones melanocíticas del SNC. Métodos: Revisión de imágenes de RM de 23 pacientes con lesiones melanocíticas del SNC diagnosticadas entre enero de 2012 y junio de 2018. Resultados: La mayoría de los pacientes fueron mujeres (14/23; 61%), con edades comprendidas entre las 3 semanas de vida hasta los 72 años. Las lesiones melanocíticas primarias representaron 8/19 (42,1%), incluyendo: melanosis neurocutáneas, melanocitomas meníngeos y melanomas malignos primarios. Las lesiones melanocíticas secundarias (metastásicas) representaron 10/19 casos (52,6%). Hubo un caso de tumor con melanización secundaria (tumor neuroectodermico melanocítico de la infancia). Se incluyeron cuatro casos de melanomas oculares primarios. Los hallazgos más frecuentes fueron la localización cerebral, el aumento de señal T1 y el acentuado realce con el gadolinio. Conclusiones: Se describe la amplia variedad de lesiones melanocíticas encontradas en el SNC, enfatizando sus características a la RM. El conocimiento de sus características imagenológicas, clínicas y epidemiológicas es fundamental para su correcta interpretación, dado la notable superposición entre las presentaciones de las lesiones y lo variable de sus pronósticos.

Dermoscopy of the iris: identification of Lisch nodules and contribution to the diagnosis of neurofibromatosis type 1

Abstract Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented. Dermoscopy allowed the identification of Lisch nodules in the iris, bilaterally. The combination of these findings allowed the diagnosis of neurofibromatosis type 1, according to NIH criteria. Lisch nodules are melanocytic hamartomas of the iris, which must be evaluated through a visual augmentation method, usually employed in ophthalmology. Alternatively, dermoscopy can be used and contribute to the early diagnosis of neurofibromatosis type 1.

Retinal Hamartomas in a case of Tuberous Sclerosis

A 21-year-old male patient suffering from epilepsy came for fundoscopic evaluation. Right eye showed a ?at, smooth surfaced well circumscribed, non-calci?ed translucent lesion of 1 disc dioptre size, inferior to the optic disc, obscuring underlying vessels & an opaque, calci?ed, yellow white lesion having irregular surface & margins with mulberry appearance, elevated, supero-nasal to the disc, obscuring the underlying vessels. Adenoma sebaceum, periungual ?bromas, Ash leaf macules were seen on general physical examination suggestive of tuberous sclerosis. MRI brain revealed subependymal nodules & subcortical tubers. OCT showed an optically hyper re?ective mass with retinal disorganization and moth-eaten spaces. 2D echo showed mild Left Ventricular Hypertrophy, diastolic dysfunction, trivial mitral and tricuspid regurgitation. Ultrasonography of abdomen & pelvis showed fatty liver and renal angiomyolipoma. It was interesting to note cardiac & hepatic involvement in addition to the standard tuberous sclerosis complex (TSC) major & minor diagnostic criteria

Síndromes neurocutáneos y leucemia linfoide aguda: a propósito de un caso / Neurocutaneous syndromes and acute lymphoid leukemia: a case report

Introducción: Los síndromes neurocutáneos comprenden un grupo heterogéneo de trastornos hereditarios que comprometen principalmente la piel y el sistema nervioso central. Dentro de estos se incluye la neurofibromatosis, la esclerosis tuberosa y la enfermedad de Von-Hippel Lindau. Se caracterizan por presencia de displasia en distintos tejidos y formación de tumores en diversos órganos. Se ha descrito también un riesgo relativo aumentado para leucemia linfoblástica aguda, leucemia mielomonocítica crónica y linfoma no Hodgkin. Objetivo: Describir caso de paciente con diagnóstico de síndrome neurocutáneo (esclerosis tuberosa) que desarrolló a los 6 años una leucemia linfoide aguda. Caso clínico: Paciente femenina, seis años de edad, con antecedentes de síndrome neurocutáneo tipo esclerosis tuberosa diagnosticado a los dos años de edad- Comenzó con síndrome febril, adenopatías cervicales y hepatoesplenomegalia. El hemograma mostró anemia, trombocitopenia grave y leucocitosis con presencia de blastos. En el medulograma se observó una infiltración de 90 por ciento de blastos linfoides, por lo que se diagnosticó como una leucemia linfoide aguda. Conclusiones: La coexistencia de síndromes neurocutáneos y leucemia linfoide aguda no es frecuente. Se describe una paciente con ambas enfermedades, que fallece a pesar del tratamiento(AU)

Introduction: Neurocutaneous syndromes comprise a heterogeneous set of hereditary disorders mainly affecting the skin and the central nervous system. Among the conditions included are neurofibromatosis, tuberous sclerosis and von Hippel-Lindau disease, characterized by dysplasia in various tissues and the formation of tumors in various organs. Increased relative risk has also been described for acute lymphoblastic leukemia, chronic myelomonocytic leukemia and non-Hodgkin lymphoma. Objective: Describe the case of a patient diagnosed with neurocutaneous syndrome (tuberous sclerosis) who developed acute lymphoid leukemia at age six. Clinical case: A case is presented of a female six-year-old patient with a history of neurocutaneous syndrome, tuberous sclerosis type, diagnosed at age two. The patient started with febrile syndrome, cervical adenopathies and hepatosplenomegaly. The blood count revealed anemia, severe thrombocytopenia and leukocytosis with the presence of blasts, whereas the medullogram showed 90 percent infiltration by lymphoid blasts, leading to the diagnosis of acute lymphoid leukemia. Conclusions: Coexistence of neurocutaneous syndromes and acute lymphoid leukemia is not frequent. A case is described of a patient with both conditions who died despite the treatment indicated(AU)

Application of perforator-based neurocutaneous flap in repair of soft tissue defects of lower extremity in plateau area / 中华显微外科杂志

Objective:To investigate the clinical efficacy of perforator-based neurocutaneous flaps in repairing soft tissue defects of lower extremity in plateau area.Methods:Forty-eight patients who received perforator-based neurocutaneous local flaps to repair soft tissue defects of lower extremity from August, 2017 to December, 2019 were entered a follow-up study. The patients were 17 to 65 years old, 29 males and 19 females. There were 23 flaps with sural neurocutaneous perforator, 15 with saphenous neurocutaneous perforators, and 10 with superficial peroneal neurocutaneous perforators. The size of soft tissue defects ranged from 4.0 cm×3.5 cm to 15.0 cm×12.0 cm. And the size of the flaps ranged from 6.0 cm×4.5 cm to 16.0 cm×13.0 cm. The donor sites of 17 cases were directly sutured, and the rest of 31 were repaired by skin graft. The regular follow-up was performed.Results:Of the 48 cases, 33 neurocutaneous flaps survived completely, 9 had necrosis around edge of the skin after surgery and healed after hyperbaric oxygen therapy and dressing change, and 6 had complete necrosis after surgery and healed after vacuum assisted drainage and skin grafting. In 6 to 12(average, 9.6) months of follow-up after surgery, the shape and texture of flaps were in good condition with the patient satisfaction rate on functional evaluation(joint motions, standing, walking) at 75.45%.Conclusion:Perforator-based neurocutaneous flap is an excellent choice for the repair of soft tissue defects of lower extremity in plateau area because of its reliable blood supply and minimal damage to donor site.

Neurofibromatosis type-1 with seizures and cerebrovascular malformation: a case study

Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous among humans. Epilepsy is more prevalent in NF1 patients than in the general population. NF1 vasculopathy is also a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels. Herein, we report a 2 year old female child with seizures and multiple cafe-au-lait spots on the body. The patient was diagnosed with NF1 based on clinical findings and family history. MRI Brain revealed middle cerebral artery dysplasia. Here we discuss diagnostic and treatment challenges and briefly reviews the existing literature.

Morning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome / Anomalia de Morning Glory associada à extenso hemangioma infantil como apresentação da Síndrome PHACE

ABSTRACT Infantile hemangioma, the most common benign tumor in infancy, is usually an isolated condition occurring in many different locations in the body. However, large infantile hemangioma may be associated with other systemic malformations, including central nervous system, cerebrovascular, cardiac, and ophthalmology abnormalities, a condition termed PHACE syndrome. In this paper, we describe a case of PHACE syndrome that was presented with the unique association of a large facial infantile hemangioma and morning glory anomaly.

RESUMO O hemangioma infantil é a causa mais comum de tumor benigno na infância e usualmente é uma condição isolada podendo ocorrer em diferentes regiões do corpo. No entanto, hemangiomas infantil extensos podem ser associados com outras malformações sistêmicas incluindo anomalias no sistema nervoso central, cerebrovasculares, cardíacas e oftalmológicas, uma condição denominada síndrome PHACE. Neste trabalho, descrevemos o caso de um paciente com síndrome PHACE que se apresentou com um extenso hemangioma facial e anomalia de "morning glory".

Síndrome de Parry-Romberg: hemiatrofia facial progresiva. Reporte de caso / Parry-Romberg Syndrome: progressive facial hemiatrophy case report

INTRODUCCIÓN: el Síndrome de Parry-Romberg es un trastorno neurocutáneo, muy raro, caracterizado por hemiatrofia facial progresiva, su primer signo clínico es la asimetría facial, se presenta frecuentemente de manera simultánea con la esclerodermia lineal. PRESENTACIÓN DE CASO: femenina de 54 años de edad, con antecedente de hemiatrofia facial y alteración oftalmológica izquierda desde los 14 años. DISCUSIÓN: el Síndrome de Parry-Romberg inicia entre las primeras décadas de la vida con hiperpigmentación, atrofia de la dermis, grasa subcutánea, músculo y huesos subyacentes. La atrofia afecta la hemicara siguiendo la distribución del nervio trigémino y sus ramas; este caso coincidió con la edad de inicio, la lesión se limitó a la hemicara izquierda. CONCLUSIÓN: debe tenerse presente como diagnóstico diferencial en pacientes con alteración en la simetría facial de larga evolución sin causa aparente, el diagnóstico temprano evita las complicaciones graves, se recomienda un manejo multidisciplinario para mejorar la calidad de vida de los pacientes.

INTRODUCTION: parry-Romberg Syndrome is a neurocutaneous disorder, very rare and characterized by progressive facial hemiatrophy, the first clinical sign is facial asymmetry. SPR occurs simultaneously with high frequency with linear scleroderma. CASE PRESENTATION: a 54-year-old female, with a history of left facial hemiatrophy since she was 14 years old, presented a left ophthalmological alteration. DISCUSSION: Parry-Romberg Syndrome begins in the first decades of life with hyperpigmentation, atrophy of the dermis, subcutaneous fat, muscle and underlying bones. Atrophic affects the hemicara with distribution of the trigeminal nerve and its branches; this case coincided with the age of onset and the lesion was limited to the left hemicra. CONCLUSION: it should be borne in mind as a differential diagnosis in patients with long-standing facial symmetry alteration without apparent cause, early diagnosis avoids serious complications, multidisciplinary management is recommended to improve the quality of life of patients.

Síndrome Klippel-Trenaunay en el embarazo. Reporte de un caso / Klippel-Trenaunay syndrome in pregnancy. Case report

Resumen ANTECEDENTES: El síndrome Klippel-Trenaunay es neurocutáneo, con repercusión vascular. La triada característica la integran: nevo vascular cutáneo, venas varicosas e hipertrofia asimétrica de los tejidos blandos y huesos que afectan una o más extremidades. Durante el embarazo estas malformaciones se incrementan, con afectación pélvica e intraabdominal. En la bibliografía internacional están reportados menos de 100 casos de embarazos complicados con este síndrome. CASO CLÍNICO: Paciente de 16 años, primigesta, con síndrome Klippel-Trenaunay diagnosticado a los 15 años, enviada a nuestra unidad, en el tercer trimestre del embarazo, para finalización de éste. Se le practicaron estudios preoperatorios: biometría hemática, pruebas de coagulación, reportados sin alteraciones. El ultrasonograma Doppler del segmento uterino sin incremento en la vasculatura. Se programó para cesárea, que se llevó a cabo sin complicaciones intraoperatorias, con sangrado de 600 cc, incremento de la vascularidad en el colon. Permaneció en vigilancia durante 48 horas, luego de la operación, en cuidados intensivos, sin complicaciones hemorrágicas o isquémicas. Se dio de alta del hospital a las 72 horas, con tromboprofilaxis, analgésico y antibiótico. CONCLUSIÓN: El embarazo en pacientes con síndrome de Klippel-Trenaunay implica una elevada morbilidad y mortalidad, que pueden prevenirse con atención multidisciplinaria que disminuya las potenciales complicaciones.

Abstract BACKGROUND: Klippel-Trenaunay syndrome is a neurocutaneous syndrome with vascular repercussion whose characteristic triad is a cutaneous vascular nevus, varicose veins and asymmetric soft tissue and bone hypertrophy, which affect one or more limbs, during pregnancy these malformations increase, with pelvic and intra-abdominal repercussion. In the world literature, fewer than 100 cases of complicated pregnancies with this syndrome have been reported. OBJECTIVE: The second case of complicated pregnancy with Klippel-Trenaunay syndrome treated in our institution is reported, given its high morbidity, due to the high risk of severe complications such as venous thromboembolism or excessive bleeding in the intrapartum period. CLINICAL CASE: A 16-year-old, with a Klippel-Trenaunay syndrome diagnosed at fifteen, sent to our unit, with a third-trimester pregnancy, for resolution of pregnancy. Preoperative studies were performed blood count, coagulation tests, reported without alterations; as well as Doppler ultrasound of the uterine segment, without an increase in vasculature. It is scheduled for caesarean section, which is performed without intraoperative complications, with total bleeding of 600 cc, with an increase in vascularity at the colon level. She remains in immediate postoperative surveillance for 48 hours in an intensive care unit, without presenting haemorrhagic or ischemic complications. She is discharged at 72 hours, with thromboprophylaxis, analgesic and antibiotic. CONCLUSION: Pregnancy in patients with this syndrome implies high morbidity and mortality, which can be prevented with multidisciplinary management, anticipating potential complications.

Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors' size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn's family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.

Nevos melanocíticos congénitos / Congenital melanocytic nevus / Nevos melanocíticos congênitos

Resumen: Los nevos melanocíticos congénitos son una proliferación melanocítica benigna presente al nacimiento o que surgen en los primeros 2 o 3 años de vida. Habitualmente se clasifican, según su tamaño, en pequeños, medianos y grandes. Su importancia radica en el potencial riesgo de desarrollar melanoma, en la repercusión que tienen en la calidad de vida de quien los padece y en la asociación con disrafismo y tumores del sistema nervioso central. A mayor tamaño, mayor riesgo de desarrollar melanoma en el nevo o fuera de él. Describiremos las características epidemiológicas, clínicas dermatoscópicas y revisaremos el manejo y seguimiento de los nevos congénitos.

Summary: Congenital melanocytic nevi are a benign melanocytic proliferation present either from birth or during the first 2 or 3 years of life. They are usually classified according to size as: small, medium and large. Their importance lies on the potential risk of developing melanoma, on the impact they have on the patient's quality of life and on its association with dysraphism and tumors of the central nervous system. The larger the size of the nevi, the higher the risk of developing melanoma inside or outside the nevus. We will describe the epidemiological and dermatoscopic clinical characteristics and review the management and follow-up of congenital nevi.

Resumo: Os nevos melanocíticos congênitos são uma proliferação melanocítica benigna presente desde o nascimento ou durante os primeiros 2 ou 3 anos de vida. Eles são geralmente classificados de acordo com o seu tamanho como: pequenos, médios ou grandes. Sua importância está no risco potencial de desenvolver melanoma, no impacto que eles têm na qualidade de vida do paciente e na sua associação com disrafismo e tumores do sistema nervoso central. Quanto maior o tamanho dos nevos, maior o risco de desenvolver melanoma dentro ou fora do nevo. Descreveremos as características clínicas epidemiológicas e dermatoscópicas dos nevos congênitos e revisaremos o seu gerenciamento e acompanhamento.

Angiosome study of the first digital feet space, for reconstruction of the digital tip

Background: The concept of angiosome explains the anatomical variations that exist between the vessels of different regions of the body and helps to understand the contributions of arterial blood supply to the skin and adjacent structures, dividing the human body into three-dimensional vascular blocks.Methods: This was an observational and descriptive study. In both lower extremities of 5 corpses with adequate tissue preservation in the operating room attached to the teaching area of the National Institute of Forensic Sciences in Mexico City. Angiosome study of the medial neurocutaneous flap of the second toe of both feet was performed.Results: The average, in centimeters, of the surface of the flaps was 1.57 cm x 2.47 cm, the average diameter of the inter-metatarsal digital artery was 1.1 millimeters and the average diameter of the veins draining the angiosome was 1.4 millimeters. The most constant anatomy was that of the nerve, which was present in all cases, with the digital nerve forming the neurosome of the flap.Conclusions: To obtain optimal results in microsurgery transfers, it is necessary to have a technique that is quick for harvesting the flap and with adequate systematization so as not to injure the neurovascular bundle, this is achieved through complete anatomical knowledge, without forgetting the main variants.

Sturge-Weber Syndrome – A Case Report

Encephalo-trigeminal angiomatosis otherwise known as struge Weber syndrome is characterised by port-wine stain. Here wereport a case with typical charecteristics of the same and description about the patients clinical presentations

Reporte de una familia con esclerosis tuberosa / Report of a family with tuberous sclerosis

RESUMEN La esclerosis tuberosa es una enfermedad neurocutánea autosómica dominante, con afectación multisistémica. Se caracteriza por la tríada adenoma sebáceo, retraso mental y epilepsia. Presentamos una serie de casos de esclerosis tuberosa familiar en primera y segunda generación, con importante penetrancia y expresión completa de la enfermedad.

SUMMARY Tuberous sclerosis is an autosomal dominant neurocutaneous disease, with multisystem involvement. It is characterized clinically by the triad sebaceous adenoma, mental retardation and epilepsy. We present a series cases of familial tuberous sclerosis with obvious manifestations in first and second generation.

Neurofibromatosis tipo 1 (nf1): presentación de un caso clínico con variable expresividad fenotípica y revisión de la literatura / Review and presentation of neurofibromatosis type 1 (nf1): clinical case with variable phenotypic exressivity

RESUMEN La neurofibromatosis tipo 1 (NF1) o enfermedad de Von Recklinghausen, es un desorden genético hereditario, que se transmite bajo un patrón autosómico dominante con penetrancia casi del 100%, progresiva, multisistémica con afectación predominante de piel y sistema nervioso. Siendo el más frecuente de los síndromes neurocutáneos. Tiene una incidencia de 1 por cada 3.000 nacimientos a nivel mundial. Las manifestaciones clínico dermatológicas más comunes son: maculas café con leche, nódulos de Lisch y efélides en áreas no foto expuestas. Se reporta el caso de paciente masculino de 8 años de edad, con antecedentes contributorios y rasgos fenotípicos, diagnósticos para la enfermedad.

SUMMARY Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease, is an hereditary genetic disorder with autosomal dominant inheritance and almost 100% of penetrance. Characteristically progressive and multisystemic, with predominant skin and nervous system involvement. It is the most frequent neurocutaneous syndrome with an incidence of 1 per 3,000 births worldwide. Usual skin findings include cafe-au-lait macules, neurofibromas and freckles in non-photo exposed areas. We report the case of an 8-year-old male with a contributory family history and diagnostic phenotypic features for this disease.