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

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 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.

Manejo estomatológico pediátrico de la hipomelanosis de ito. reporte de un caso / Dental management hypomelanosis of ito. case report

La hipomelanosis de Ito (incontinencia pigmentante acromática o nevo sistmico acrómico) es una enfermedad dermatolgica o sindrome neurocutáneo de ocurrencia rara, que consiste en la presencia de manchas dérmicas hipopigmentadas en varias partes del cuerpo, además de múltiples manifestaciones extracutáneas, principalmente del sistema nerviosocentral (posible retraso mental de diferentes grados), musculo-esqueléticas y oculares. También ha sido asociada con diversas anomalías dentales, como son la hipodoncia y el talón cuspídeo palatino. El propósito del presente artículo es reportar el manejo estomatológico proporcionado a una niña de 2 años y 7 meses de edad con hipomelanosis de Ito, en la clínica del Posgrado en Estomatolog¡a Pediátrica, de la Universidad Autónoma de San Luis Potosi.

Hypomelanosis of Ito (incontinence pigmenting achromic or systemic achromic nevus) is a dermatological disease or neurocutaneous syndrome rare occurrence, with incidence of dermal hypopigmented spots in many parts of the body, and several extracutaneous manifestations, primarily central nervous system (possible mental retardation of variable degrees), optical and musculoskeletal. It has also been associated with various dental anomalies such as hypodontia and the palatal cusp heel. The purpose of this paper is to report dental management provided a girl of 2 years and 7 months old with Hypomelanosis of Ito, at the clinic of Pediatric Dentistry of the Autonomous University of San Luis Potosi.

Updates on hypomelanosis of Ito / 国际儿科学杂志

Hypomelanosis of Ito is a multisystem neurocutaneous syndrome. The pathogenesis hasn′t been clear and typical cutaneous lesions are associated with variable extracutaneous abnormalities involved the central nervous system and musculoskeletal system. Its clinical manifestations include abnormal skin biopsy and chromosomal patterns and brain iconography. The treatments have to be adapted to the individual and prognosis depends on the severity of clinical manifestations and complications.

Encephalocraniocutaneous lipomatosis: A case report and review of the literature.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular examination of the right eye showed hypertrophy of bulbar conjunctiva with limbal dermoid, clouding of cornea, and atypical upper eyelid coloboma. The left eye showed conjunctival congestion and corneal vascularization. Dermatological examination showed alopecia, nevus psiloliparus, focal dermal hypoplasia on forehead, multiple focal aplastic lesions on the scalp, skin tag at canthus, and lipoma in the fronto-temporal region. Imaging revealed calcifi cation of the right globe, hydrocephalus, agenesis of corpus callosum, multiple intracranial cysts, calcifi cation, and lipomas. The constellation of these clinical and the imaging fi ndings led to a diagnosis of encephalocraniocutaneous lipomatosis. This case report and review of the literature is presented to provide a synopsis of problems likely to be encountered by an ophthalmologist who treats patients with ECCL.

Neurocutaneous Melanosis in Association with Dandy-Walker Complex with Extensive Intracerebral and Spinal Cord Involvement

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.

Síndromes Neurocutáneos identificables por el Médico General Integral mediante examen físico / Identifiable Neurocutaneous Syndromes at General Comprehensive Medical physical examination

Introducción: el Síndrome Neurocutáneo es el término general que se utiliza para referirse a determinados trastornos neurológicos. Constituye un grupo heterogéneo de desórdenes congénitos que afectan principalmente a las estructuras derivadas del neuroectodermo embrionario. Objetivo: caracterizar los hallazgos clínicos de los Síndromes Neurocutáneos identificables al examen físico por el Médico General Integral. Métodos: se realizó un trabajo de revisión donde se utilizaron métodos teóricos en el proceso de revisión de la bibliografía actualizada seleccionada, específicamente en el campo de la neurología, la dermatología y la genética. Resultados: las características clínicas de la Esclerosis Tuberosa, Neurofibromatosis Tipo 1, Tipo 2, Schwannomatosis y Enfermedad de Sturge-Weber (Sindromes Neurocutáneos) se pueden identificar durante el examen físico. Conclusiones: el adecuado conocimiento por el Médico General Integral, de las características clínicas del síndrome neurocutáneo, considerando su heterogeneidad y expresividad clínica, permite realizar al examen físico el diagnóstico oportuno de la enfermedad, lo que favorece el manejo del paciente...

Introduction: the neurocutaneous syndrome is the general term used to refer to certain neurological disorders. It is a heterogeneous group of congenital disorders that primarily affect structures derived from the embryonic neuroectoderm. Objectives: to characterize the clinical features of neurocutaneous syndromes that are identifiable at physical examination by the general comprehensive physician. Methods: a review of the selected current literature was performed for theoretical methods, specifically, in the field of neurology, dermatology and genetics. Results: the clinical characteristics of tuberous sclerosis, types 1and 2 neurofibromatosis, Schwannomatosis and Sturge-Weber disease (Neurocutaneous Syndromes) can be identified during the physical examination. Conclusions: knowledge of clinical features of the neurocutaneous syndrome, considering its clinical heterogeneity and expressiveness, physical examination allows early diagnosis of the disease by general comprehensive physician. This knowledge favors patient management...

Complejo esclerosis tuberosa: a propósito de un caso / Tuberous sclerosis complex: a case report

El complejo esclerosis tuberosa (CET) es una enfermedad, multisistémica, autosómica, dominante caracterizada por una diversidad de manifestaciones clínicas. El 85% de los niños con esta enfermedad presenta manifestaciones nuerológicas que por su gravedad, constituyen la principal causa de morbimortalidad. Los rabdomiomas cardiacos están presentes en 66% en recién nacidos y las lesiones mucocutáneas en un 100%. Se produce por mutaciones de los genes TSCI del cromosoma 9q34 y TSC2 del cromosoma 16q13.3. Se hereda con un rasgo autosómico dominante, pero el 60% -70% de los casos son esporádicos y representarían nuevas mutaciones. La prevalencia de esta enfermedad varía entre 1/10000 de los niños nacidos vivos. Presentar la evolución clínica de un lactante masculino de 3 meses de edad, con diagnóstico de esclerosis tuberosa y revisar los aspectos más relevantes de esta anomalía congénita. Lactante de 3 meses de edad, referido por presentar rabdomioma cardíaco diagnósticado por ecografía perinatal. En la resonancia magnética cerebral, se evidenciaron nódulos subependimarios adyacentes al cuerno frontal del ventrículo lateral. Evaluación dermalógica con lámpara de Wood: se observaron máculas en hojas de fresno, compatibles con una enfermedad neurocutánea. La esclerosis tuberosa puede originar manifestaciones clínicas muy diversas, por lo que requiere de un diagnóstico precóz para garantizar la calidad de vida de estos pacientes, a través de la intervención multidisciplinaria de todo el equipo de salud

The tuberous sclerosis complex (TSC) is a multisystemic disease, autosomic dominant, characterized by a variety of clinical manifestations. Eighty five percent of children with this disease present neurological manifestations which, due to their sever ity, are the main cause of mortality. Cardiac rhabdomyomas occur in 66% of newborns and mucocutaneous lesions in 100%. This disease is caused by mutations in the TSC1 gene of chromosome 9q34 and TSC2 of chromosome 16p13.3. It is inherited as an autosomic dominant trait, but 60% -70% of cases are sporadic and represent new mutations. The prevalence of this disease varies from 1/6000 to 1/10000 live births. To report the clinical course of a 3 month old infant male, diagnosed with tuberous sclerosis and to review the mostrelevant aspects of this congenital disease. This is a 3 month old infant, referred because of a cardiac rhabdomyoma disgnosed in a perinatal ultrasound. The brain MRI showed subependymal nodules adjacent to the frontal horn of the lateral ventricle. Dermatological evaluation with Wood’s lamp revealed ash-leaf macules consistent with neurocutaneous disease. Tuberous sclerosis may cause a variety of clinical manifestations, and therefore requires early diagnosis to ensure the quality of life of these patients through multidisciplinary intervention by the entire health team

Síndrome de Parry Romberg: reporte de un caso / Parry Romberg syndrom: a case report

El síndrome de Parry Romberg es un trastorno neurocutáneo de etiología no bien establecida. Se presenta como hemiatrofia facial progresiva y puede asociarse a otras alteraciones neurológicas como: epilepsia, migraña y neuralgia del trigémino. Las características clínicas y radiológicas de este síndrome son bien conocidas, sin embargo debido a que es una enfermedad infrecuente y muchas veces desconocida, su diagnóstico generalmente es tardío, lo que lleva a una inadecuada atención e información a quienes la padecen. Se presenta un caso de una paciente de mediana edad que cursó con hemiatrofia facial progresiva desde la edad de 7 años asociada a migraña y dolor facial de tipo neuropático, en quien se realizó diagnóstico tardío.

Parry-Romberg syndrome is a neurocutaneous disorder with a not well-established etiology characterized by progressive facial hemiatrophy related to other neurological disorders such as epilepsy, migraine and trigeminal neuralgia. Clinical and radiological features of this syndrome are well known, but are still an unusual and unknown disease; therefore it is diagnosed late leading to an inadequate care and misinformation to patients. This paper report the case of a middle aged woman with progressive facial hemiatrophy since seven years old associated with migraine and facial neuropathic pain, classical complications of this disease. Since diagnosis was made many years after de onset of symptoms, she received the proper treatment of her ophthalmologic and neurological disorders late.

Aesthetic Consideration of Management in Encephalocutaneous Lipomatosis: How we do it

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome that was characterized by unilateral, smooth, hairless fatty tissue nevi of the scalp, termed nevus psiloliparus, facial lesions, multiple anomalies involving the eye, and ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental delays, and mental retardation. A 12-month-old boy was referred to our clinic for evaluation of non-scarring alopecia on the left side with an underlying fatty mass in the left parietal scalp and left-sided multiple periocular masses. It showed a large lipomatous mass on the scalp with overlying alopecia. Multiple skin tags and defects in the left periocular area were also observed. Additional ocular anomalies included epibulbar lipodermoid, iris coloboma, and localized peripapillary hypopigmentation lesions. After complete excision, the wound was covered with a local flap. The histologic examination revealed a mass surrounded by a well-developed capsule within the dermal layer, adipose tissue and connective tissue septa extending into the reticular dermis. No recurrence was observed at follow-up. It is essential to differentiate suspected ECCL from other syndromes which present with epibulbar chorisotomas. Neuroimaging, and pathological studies may be helpful for correct diagnosis. We will correct multiple periocular lesions in preschool age and follow up developmental problems like developmental delay and mental retardation constantly.

Esclerosis tuberosa en el adulto: hallazgos en tomografía computada multicorte, presentación de un caso clínico y revisión de literatura / Tuberous sclerosis in adults: Multi slice computed tomography findings: case report and literature review

Tuberous sclerosis, also known as tuberous sclerosis complex, is an autosomal dominant, multisystemic, neurocutaneous disease characterized by a wide range of hamartomatous lesions involving the skin, brain, kidneys, heart, etc. In most cases, it is diagnosed in childhood. Diagnosis in adult patients is usually made by renal failure and lung or dermatologic alterations. We report the case of a 57-year-old female patient with mental retardation and flank pain. A literature review on imaging manifestations of this rare disease is also provided.

La esclerosis tuberosa también conocida como complejo esclerosis tuberosa es una enfermedad autosómica dominante, multisistémica, neurocutánea caracterizada por un amplio espectro de lesiones hamartomatosas que afectan la piel, cerebro, riñones, corazón, etc. La mayoría de las veces es diagnosticada en la niñez. El diagnóstico en pacientes adultos se realiza generalmente por falla renal y alteraciones pulmonares o dermatológicas. Presentamos el caso de una paciente de 57 años con discapacidad mental y dolor en ambos flancos, lo que acompañamos de una revisión de la literatura respecto de las manifestaciones imagenológicas de esta rara enfermedad.

Alargamento unilateral dos espaços perivasculares observados à ressonância magnética em um caso de hipomelanose de Ito: qual o valor deste achado? / The unilateral enlargement of the perivascular spaces on magnetic resonance imaging in a case of hypomelanosis of Ito: which the value of this finding?

Hipomelanose de Ito é uma síndrome neurocutânea rara, ligada ao cromossomo X, de caráter dominante, caracterizada por manchas hipopigmentadas seguindo as linhas de Blaschko, dispostasem espirais e estrias, que estão presentes ao nascimento ou surgem nos primeiros meses de vida.O envolvimento cerebral é frequente e representado por retardo mental e convulsões. Anormalidadesmusculoesqueléticas, dentárias, cardíacas, gastrintestinais ou urinárias podem estar presentes.A avaliação por imagem é normal em até 25% dos casos, porém o alargamento dos espaçosperivasculares, dentre outras apresentações de imagem, pode estar presente. Assim sendo, o diagnóstico diferencial com patologias tumorais e não-tumorais deve ser estabelecido.

Hypomelanosis of Ito is a rare neurocutaneous syndrome, X-linked,dominant, characterized by hypopigmented lesions of skin alongthe Blaschko lines. Skin lesions usually are present at birth orappear early in life. The cerebral involvement is frequent and represented by mental retardation and seizures. Skeletal Muscleabnormalities, dental, cardiac, gastrointestinal or urinary may bepresent. The imaging evaluation is normal up to 25% of the casesbut the enlargement of perivascular spaces, among other imagespresentations, may be present, thus the differential diagnosis oftumor and non-tumor, should be established.

Tuberous Sclerosis in a Child

Tuberous sclerosis is one of the important neurocutaneous syndrome chracterized by abnormalities of both the integument and central nervous system. We present here a classical case of tuberous sclerosis. This is a three year female child who had myoclonic seizures, delayed milestones and had hypopigmented skin lesions. MRI brain and EEG were consistent with the diagnosis.

A Case of Encephalocraniocutaneous Lipomatosis (ECCL)

PURPOSE: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndromes characterized by unilateral scalp and facial lesions and multiple anomalies involving the eye and central nervous system. To our knowledge, this is the first case reported in Korea. METHODS: A 19-month-old girl was referred to our clinic for evaluation of right-sided multiple facial masses and ocular disorders. RESULTS: Physical examination showed large lipomatous masses on the scalp with overlying alopecia. There were also multiple skin tags in the right periocular area and defects of the right lid margin and lateral canthus. Other ocular anomalies included epibulbar lipodermoid, corneal opacity, iris coloboma and localized hypopigmentation of the retinal pigment epithelium. Brain MRI demonstrated multiple abnormalities that were consistent with lipomas and leptomeningeal angiomatosis. We removed the scalp lipoma and the epibulbar lipodermoid and reconstructed the lateral canthus. CONCLUSIONS: In the case of suspected ECCL, it is essential to differentiate from other syndromes which present with epibulbar choristoma. Neuroimaging such as CT or MRI and pathologic study may be helpful.

Linear and whorled nevoid hypermelanosis with delayed psychomotor development

We report a case of a 25-month-old girl presented to us for the evaluation of a severe delayed psychomotor development who also has pigmentary abnormalities. Linear and whorled hyperpigmentations following Blaschko's lines were noticed on her entire body except on her face, palms, soles, eyes and mucous membranes, which closely resembled those found in hypomelanosis of Ito, but inversely pigmented. Histologic examination revealed basal layer hyperpigmentation without incontinence of pigment or dermal melanophages. Chromosomal analysis of cultured peripheral leukocytes and fibroblasts from the hyperpigmented and the hypopigmented skin revealed normal female karyotype with no evidence of mosaicism or chimerism. This entity represents a kind of neurocutaneous syndrome-referred to by some authors as linear and whorled nevoid hypermelanosis.