Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos / Clinical and epidemiological findings in neurofibromatosis type 1 and tuberous sclerosis complex in a series of pediatric patients

Resumen: Introducción: La neurofibromatosis tipo 1 (NF1) es una entidad genética con una incidencia de 1 entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta una incidencia de 1 entre 6,000 a 10,000 nacimientos. Ambas entidades neurocutáneas cursan con un patrón de herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada a complicaciones multisistémicas. El objetivo de este trabajo fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de NF1 y CET atendidos en la Unidad de Genética Médica de la Universidad de Los Andes. Métodos: Este trabajo corresponde a una serie de casos de pacientes menores de 16 años atendidos en un período de 11 años, que cumplan con los criterios diagnósticos de NF1 y CET según los consensos para cada entidad. Resultados: Se estudiaron 89 pacientes, 73 con NF1 y 16 con CET. Presentaron dos criterios para NF1, 58 (79.45%) pacientes, y las máculas café con leche fueron las más frecuentes y presentes en todos los casos; 10 pacientes (62.50 %) presentaron dos criterios mayores para el CET, y las máculas hipocrómicas estuvieron igualmente presentes en todos los casos. Conclusiones: Este estudio muestra la forma de presentación clínica de las dos entidades neurocutáneas más frecuentes. Se discuten los criterios diagnósticos con el objeto de identificarlos a edades más tempranas y poder brindar una evaluación médica interdisciplinaria, tratamiento y un oportuno asesoramiento genético familiar.

Abstract: Background: Neurofibromatosis type 1 (NF1) is a genetic entity with an incidence of 1 in 2,500 to 3,500 births. Tuberous sclerosis complex (TSC) has an incidence between 1 in 6,000 to 10,000 births. Both neurocutaneous entities present an autosomal dominant inheritance pattern, variable expressivity and their morbidity and mortality is associated with multisystemic complications. The aim of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with NF1 and TSC, who were treated in the Medical Genetics Unit of the Universidad of Los Andes. Methods: This work corresponds to a series of cases of patients under 16 years of age served in a period of 11 years, who met the diagnostic criteria of NF1 and CET according to the consensus for each entity. Results: We studied 89 patients, 73 with NF1 and 16 with TSC. 58 (79.45%) of the patients presented two criteria for NF1, with café-au-lait macules being the most frequent and present in all cases. 10 (62.50%) of the patients presented two major criteria for TSC; hypochromic macules were equally present in all cases. Conclusions: This study shows the clinical presentation of the two most frequent neurocutaneous entities. Diagnostic criteria are discussed in order to perform them at younger ages and to provide an interdisciplinary medical evaluation, treatment and timely family genetic counseling.

Dermatosis por neblina ácida: a propósito de un caso / Dermatosis be caused by exposure to acid mist: a case report

Las dermatosis laborales son patologías frecuentes en la práctica clínica y producen un problema importante en la salud de los pacientes, siendo la dermatitis de contacto ocupacional la más frecuente. A continuación presentamos el caso clínico de un trabajador de la minería expuesto en su ambiente laboral a un aerosol ácido, llamado neblina ácida, presentando una hipopigmentación post inflamatoria secundaria a la exposición a éste. Tanto el proceso diagnóstico, como la prevención de las dermatitis de contacto laboral, debe ser un proceso riguroso, ya que su pronóstico es variable, incluso cuando se logre evitar la exposición al agente causal.

Work-related dermatoses are frequent pathologies in the clinical practice and produce a major health- problem, being the occupational contact dermatitis the most frequent disease. We study the case of a mining worker exposed in his work enviroment to an acid aerosol, called acid mist, presenting a post inflammatory hypopigmentation after the exposure to this acid. The diagnosis process, as well as the prevention of occupational contact dermatitis must be rigorous, since their prognosis is variable, despite of avoiding the exposure to the causative agent.

Hallazgo por neuroimaginología de microangiopatía cerebral retiniana con calcificaciones y quistes / Neuroimaging findings in cerebroretinal microangiopathy with calcifications and cysts

La microangiopatía cerebral retiniana con calcificaciones y quistes es una enfermedad poco frecuente, caracterizada por alteraciones cerebrales, retinianas y óseas, así como por predisposición al sangrado gastrointestinal. Existen pocos reportes de casos de esta condición, especialmente en adultos, en quienes la incidencia es baja. Los hallazgos por medio de neuroimágenes son característicos, con calcificaciones bilaterales y múltiples formaciones quísticas. El propósito de este artículo fue hacer una revisión bibliográfica e ilustrar dos casos cuyo diagnóstico fue posible con la ayuda de neuroimágenes.

Cerebroretinal microangiopathy with calcifications and cysts is a rare condition characterized by brain, retinal and bone anomalies, as well as a predisposition to gastrointestinal bleeding. There are few reported cases of this condition in adults, among whom the incidence is low. Neuroimaging findings are characteristic, with bilateral calcifications, leukoencephalopathy and intracranial cysts. The purpose of this article was to do a literature survey and illustrate two cases diagnosed with the aid of neuroimaging.

Idiopathic acquired leukonychia

A rare case of 29 years old healthy male patient with persistent progressive total whitening of all the finger and toe nails [Idiopathic acquired leukonychia] since the age of 20 years is being presented here. The nail changes were of great concern in terms of social embarrassment to the patient. Idiopathic acquiredleukonychia is a rare chromatic disorder of the nails not associated with other abnormalities and discernible etiology. To the best of our knowledge, probably it is the second case report from India after the first one reported from Mumbai earlier. Hence it is presented here for its rarity

Herpes simplex labialis virus is a risk factor for vitiligo [post- herpes simplex labialis vitiligo]

Herpes simplex labialis is a common disease and is the major cause of erythema multiforme. Recently post-herpes labialis leukoderma had been noticed on the lips of Iraqi patients. The aim of the present work is to assess this new pigmentary problem. A total of 24 patients with post-herpes labialis leukoderma were included in this study. Full history and a thorough physical examination were done for all patients. Fourteen females [58.37%] and 10 males [41.67%] were studied. Their ages ranged between 7-53 years. Koebner phenomenon was positive in 17 [70.83%] patients. Family history of vitiligo in close relatives was positive in 13 [54.17%] of patients. The findings of the present work are in favor that this type of leukoderma is a variant of vitiligo that may be induced by herpes-simplex labialis.

Leucodermia sifilítica: expressão rara do secundarismo diagnosticada por exame histopatológico / Leucoderma syphiliticum: a rare expression of the secondary stage diagnosed by histopathology

Biópsias são ocasionalmente necessárias para confirmação diagnóstica de sífilis secundária, normalmente obtida por correlação clínico-sorológica. Entretanto, o exame histopatológico pode oferecer pistas que conduzam a um diagnóstico em casos antes insuspeitos ou de apresentação clínica incomum. Apresentamos um paciente de 35 anos, há dois com lesões acrômicas vitiligoides, para o qual sífilis foi sugerida somente após o exame histopatológico. Alguns aspectos microscópicos observados são discutidos e comparados com dados disponíveis na literatura.

Biopsies are occasionally necessary to confirm the diagnosis of secondary-stage syphilis, currently achieved by clinico-serological correlation. However, histopathologic examination may offer clues that can lead to the diagnosis of the disease in previously unsuspected or unusual cases. We report the case of a 35-year-old male patient with vitiligo-like lesions for two years, whose diagnosis of syphilis was suggested only after histopathologic examination. Some microscopic aspects observed are discussed and compared to data from the literature.

Congenital langerhans cell histiocytosis with skin and lung involvement: Spontaneous regression.

Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare type of Langerhans Cell Histiocytosis, presenting at birth or during the neonatal period with eruption of multiple, discrete red-brown papules or nodules that undergo spontaneous regression. Systemic signs are generally absent. We describe a 4-month-old infant presenting with reddish brown nodular cutaneous lesions since birth with a past history suggestive of pulmonary involvement. Skin biopsy showed a dermal infiltrate of pleomorphic histiocytes; which were CD1a and S-100 positive, consistent with the diagnosis of CSHLCH. Both pulmonary and cutaneous lesions showed spontaneous resolution.

Lesiones hipopigmentadas de la piel en la infancia / Hypopigmented skin disorders in children

Introducción: Las lesiones hipopigmentadas de la piel son un motivo frecuente de consulta en la infancia y pueden ser producidas por diversas causas. Objetivo: Conocer cuáles son las patologías más frecuentes que motivan la consulta al dermatólogo por lesiones hipopigmentadas. Método: Se registraron en forma prospectiva los 106 pacientes nuevos que fueron derivados por lesiones hipopigmentadas al policlínico de dermatología del Hospital Félix Bulnes Cerda de Santiago de Chile. Se describen sus características principales. Resultados: Los diagnósticos dermatológicos fueron: 38 por ciento vitíligo, 18 por ciento pitiriasis alba, 18 por ciento nevo acrómico, 7 por ciento mosaicismo hipopigmentado, 6 por ciento hipopigmentación postinflamatoria, 5 por ciento liquen estriado, 5 por ciento pitiriasis versicolor, 3 por ciento pitiriasis liquenoide crónica y 1 por ciento albinismo. Se describen las principales características y las enfermedades asociadas, se destaca la alta frecuencia de mosaicismo hipopigmentado, de los cuales la mayoría no presentó anomalías extracutáneas.

Neurofibromatosis I with unusual hypopigmentation masquerading as leprosy.

A case of Neurofibromatosis I (NFI) occurring in association with symmetrical peripheral nerve enlargement and multiple hypopigmented macules strikingly limited to the neurofibromas, with normal to minimally reduced sensations, evoking a strong clinical suspicion of co-existent lepromatous leprosy, is being reported. Leprosy was ruled out by microbiological, histopathological and electrophysiological studies. The case is interesting in view of the hypopigmented macules overlying the neurofibromas, which is an unreported feature of NFI.

Portal hypertension in sarcoid liver disease with hypomelanotic skin involvement.

Portal hypertension due to sarcoid liver disease is a rare entity. We report the case of a 50-year-old female with sarcoid liver disease leading to portal hypertension. The literature on portal hypertension due to hepatic sarcoidosis has been reviewed and the role of steroid therapy discussed.