Daniel Navacchia
Universidad de Buenos Aires, Departamento de Patologia, Faculty Member
Research Interests:
Research Interests:
Research Interests:
Michelin baby syndrome is a rare disorder characterized by the presence of multiple circumferential and symmetrical deep folds that present at birth, with a tendency towards spontaneous resolution. These skin folds are located mainly in... more
Michelin baby syndrome is a rare disorder characterized by the presence of multiple circumferential and symmetrical deep folds that present at birth, with a tendency towards spontaneous resolution. These skin folds are located mainly in the extremities, but they can be found in the trunk and neck as well.
Case reports. We present four cases of Michelin baby syndrome attended at our department between 2003 and 2010. All patients were female, aged 2 months onwards, the oldest was 2 years-old. One patient showed developmental delay and all of them showed associated anomalies. The histopathological study revealed two cases with abnormal arrangement of elastic fibers in the dermis and an underlying lipomatous nevus in one patient and in the other there were no significant alterations.
Conclusion. Michelin baby syndrome is an extremely rare condition and it seems to be a common phenotype with multiple different histologic patterns and associated findings (Dermatol. Argent., 2012, 18(5): 371-376).
Case reports. We present four cases of Michelin baby syndrome attended at our department between 2003 and 2010. All patients were female, aged 2 months onwards, the oldest was 2 years-old. One patient showed developmental delay and all of them showed associated anomalies. The histopathological study revealed two cases with abnormal arrangement of elastic fibers in the dermis and an underlying lipomatous nevus in one patient and in the other there were no significant alterations.
Conclusion. Michelin baby syndrome is an extremely rare condition and it seems to be a common phenotype with multiple different histologic patterns and associated findings (Dermatol. Argent., 2012, 18(5): 371-376).
Research Interests:
Research Interests: Medicine and Dermatología
Las poroqueratosis son un grupo heterogéneo de trastornos de la queratinización epidérmica, de presentación infrecuente. Se caracterizan clínicamente por pápulas hiperqueratósicas que confluyen formando placas anulares con un centro... more
Las poroqueratosis son un grupo heterogéneo de trastornos de la queratinización epidérmica, de presentación infrecuente. Se caracterizan clínicamente por pápulas hiperqueratósicas que confluyen formando placas anulares con un centro atrófico y bordes sobreelevados. Hay seis variantes clínicas. El examen histopatológico evidencia la característica laminilla cornoide. Se presenta el caso de una niña de 2 años con diagnóstico de poroqueratosis de Mibelli y respuesta parcial al tratamiento tópico con tretinoínaal 0,025%, que actualmente continúa en seguimiento clínico.
Research Interests:
Congenital esophageal stenosis, a rare disease of unknown cause which reports have increased in the last few years, requires a high index of suspicion for its diagnosis and treatment. It can be classified in three types based on the... more
Congenital esophageal stenosis, a rare disease of unknown cause which reports have increased in the last few years, requires a high index of suspicion for its diagnosis and treatment. It can be classified in three types based on the etiology of the stenosis: tracheobronchial rest, fibromuscular hypertrophy and membranous diaphragm. Symptoms may vary depending on location and severity of the stenosis. Treatment options are based on clinical suspicion of the histologic type and they can be balloon dilation or surgical resection of the stenotic segment. The definitive diagnosis is the histological study.
Research Interests:
Background: Desmoplastic Fibroma (DF) of bone is a locally aggressive and infrequent benign neoplasm. Recently was described a role of vascular endothelial growth factor in the interstitial fibrotic processes. Case presentation: A... more
Background: Desmoplastic Fibroma (DF) of bone is a locally aggressive and infrequent benign neoplasm. Recently was described a role of vascular endothelial growth factor in the interstitial fibrotic processes. Case presentation: A 13-year-old female presented with pain, swelling and limitation of movements in right forearm. An osteolytic lesion at the distal end of the right radius was shown, with pathologic concentration of Technetium 99 and slight enhancement of soft tissue lesion employing computerized axial tomography. The surgical biopsy showed nodular formations of hyalinized collagen fibers arranged in thick bands with few well-differentiated interstitial fibroblasts / myofibroblasts, focally expressing VEGF-A. Conclusion: The intramedullary neoplastic proliferation is limited by the cortical bone, provoking compression of the intratumorally micro-vessels, favoring both, the extracellular matrix and VEGF-A synthesis. Future research should include therapeutic intervention wit...
El sindrome del bebe Michelin es una rara entidad caracterizada por la presencia de multiples pliegues profundos, circunferenciales y simetricos, presentes desde el nacimiento y con tendencia a la resolucion espontanea. Estos pliegues... more
El sindrome del bebe Michelin es una rara entidad caracterizada por la presencia de multiples pliegues profundos, circunferenciales y simetricos, presentes desde el nacimiento y con tendencia a la resolucion espontanea. Estos pliegues cutaneos se localizan fundamentalmente en las extremidades, pero pueden encontrarse en tronco y cuello. Casos clinicos. Presentamos 4 casos con sindrome del bebe Michelin, atendidos en nuestro servicio entre 2003 y 2010. Todos los pacientes fueron de sexo femenino, con edades comprendidas entre los 2 meses y los 2 anos. Uno de los casos presento retraso neuromadurativo y todos evidenciaron anomalias asociadas. El estudio histopatologico revelo en dos casos alteracion de la disposicion de las fibras elasticas en la dermis, en una paciente nevo lipomatoso subyacente y en un caso no se encontraron alteraciones significativas. Conclusion. El sindrome del bebe Michelin es un cuadro sumamente infrecuente y pareceria corresponder a un fenotipo comun con disti...
Research Interests:
El lupus eritematoso sistemico ampollar es una rara enfermedad subepidermica mediada por autoanticuerpos que ocurre en el lupus eritematoso sistemico. Presentamos una paciente de 14 anos de edad con lesiones ampollares distribuidas en... more
El lupus eritematoso sistemico ampollar es una rara enfermedad subepidermica mediada por autoanticuerpos que ocurre en el lupus eritematoso sistemico. Presentamos una paciente de 14 anos de edad con lesiones ampollares distribuidas en cuero cabelludo, axilas, region abdominal, genital, dedos de manos y dorso de pies, con afectacion de mucosa oral. Fue medicada con corticoides via oral, hidroxicloroquina y diaminodifenilsulfona con una rapida y adecuada respuesta. (AU) Bullous systemic lupus erythematosus is a rare autoantibody-mediated subepidermal disease that occurs in lupus erythematosus. We present a 14 year old girl with blisters distributed on the scalp, axillae, abdominal area, genitals, fingers and dorsum of feet, with involvement of oral mucosa. She was medicated with oral corticosteroids, hydroxychloroquine and diaminodifenilsulfona with rapid and appropriate response. (AU)
Los hemangiomas lumbosacros y perineales asociados a anomalias congenitas y disrafismo lumbar se han conocido con las siglas PE LVIS, SACRAL o LUMBAR. Esta combinacion de malformaciones se explica por el origen embriologico comun de las... more
Los hemangiomas lumbosacros y perineales asociados a anomalias congenitas y disrafismo lumbar se han conocido con las siglas PE LVIS, SACRAL o LUMBAR. Esta combinacion de malformaciones se explica por el origen embriologico comun de las estructuras involucradas. Presentamos dos pacien- tes con hemangiomas en region lumbosacra y perineal, uno con bridas amnioticas y otro con una anomalia vascular extensa en miem bro inferior. Conocer las malformaciones asociadas a los hemangiomas lumbosacros y perineales es imprescindible para un diagnostico y tratami ento oportunos
Resumen El xantogranuloma juvenil es un tumor benigno secundario a una proliferacion de celulas histiociticas que se presenta en lactantes y ninos; su aparicion en adultos es ocasional. Se inicia en forma repentina por la aparicion de... more
Resumen El xantogranuloma juvenil es un tumor benigno secundario a una proliferacion de celulas histiociticas que se presenta en lactantes y ninos; su aparicion en adultos es ocasional. Se inicia en forma repentina por la aparicion de lesiones cutaneas papulonodulares rojizo anaranjadas, redondeadas, de 2 a 6 mm, que se localizan preferentemente en cara y parte superior del cuerpo. Se resuelve en forma espontanea en un periodo variable. Las lesiones suelen estar limitadas a la piel pero pueden tener otra localizacion. La ocular es una de las que puede presentar severas complicaciones que incluyen glaucoma, hipema, proptosis y amaurosis como en la paciente de 4 meses que presentamos (Dermatol Argent 2010;16(3):208-211). Palabras clave: xantogranuloma, buftalmos, celulas histiociticas, hipema. Title: Disseminated juvenile xanthogranuloma with buphthalmos, hyphema, high intraocular pressure, on a four month-old infant girl Abstract Juvenile xantogranuloma (JXG) is a benign tumor due to...
Research Interests:
Congenital esophageal stenosis, a rare disease of unknown cause which reports have increased in the last few years, requires a high index of suspicion for its diagnosis and treatment. It can be classified in three types based on the... more
Congenital esophageal stenosis, a rare disease of unknown cause which reports have increased in the last few years, requires a high index of suspicion for its diagnosis and treatment. It can be classified in three types based on the etiology of the stenosis: tracheobronchial rest, fibromuscular hypertrophy and membranous diaphragm. Symptoms may vary depending on location and severity of the stenosis. Treatment options are based on clinical suspicion of the histologic type and they can be balloon dilation or surgical resection of the stenotic segment. The definitive diagnosis is the histological study.
Research Interests:
Congenital intestinal lymphangiectasis (LIP) is a protein-losing enteropathy that appears sporadically in children. It begins with edema due to hypoproteinemia and hypoalbuminemia, and in some cases with ascites, immunodeficience and... more
Congenital intestinal lymphangiectasis (LIP) is a protein-losing enteropathy that appears sporadically in children. It begins with edema due to hypoproteinemia and hypoalbuminemia, and in some cases with ascites, immunodeficience and hypocalcemic tetania. The purpose of this report is to present two patients with LIP which appeared during the first year of life. The diagnosis was certificated by upper gastrointestinal videoendoscopy and histological findings. Both patients were treated with a new formula containing mean chain triglycerides with an adequate response, not obtained before with a common semielemental formula.
Research Interests:
Giant Cell Granuloma (GCG) is an uncommon condition affecting the bones of the head and neck. The ethiology and pathophysiology are not completely understood. The histlogic characteristics of GCG are benign, but its biologic behavior... more
Giant Cell Granuloma (GCG) is an uncommon condition affecting the bones of the head and neck. The ethiology and pathophysiology are not completely understood. The histlogic characteristics of GCG are benign, but its biologic behavior could locally aggressive. We describe the case of a 6 year-old boy with GCG and performed a review of the entity ant their differential diagnosis with other lesions of the maxillary bones.
Research Interests:
La linfangiectasia intestinal primaria (LIP) es una enteropatia perdedora de proteinas de aparicion poco frecuente en los ninos. Se presenta con edemas por hipoproteinemia, y en algunos casos con ascitis, inmunodeficiencia secundaria y... more
La linfangiectasia intestinal primaria (LIP) es una enteropatia perdedora de proteinas de aparicion poco frecuente en los ninos. Se presenta con edemas por hipoproteinemia, y en algunos casos con ascitis, inmunodeficiencia secundaria y tetania hipocalcemica. El objetivo de la presente comunicacion es presentar 2 casos clinicos de LIP congenita de aparicion temprana. El diagnostico fue certificado mediante endoscopia intestinal y biopsia. Para el tratamiento se utilizo una formula a base de trigliceridos de cadena media con buena aceptacion y respuesta, a diferencia de lo observado con formulas semi-elementales de uso habitual
Research Interests:
Las histiocitosis de celulas de Langerhans tienen en comun la proliferacion de celulas dendriticas presentadoras de antigeno con caracteristicas fenotipicas y ultraestructurales de celulas de Langerhans. La infiltracion puede limitarse... more
Las histiocitosis de celulas de Langerhans tienen en comun la proliferacion de celulas dendriticas presentadoras de antigeno con caracteristicas fenotipicas y ultraestructurales de celulas de Langerhans. La infiltracion puede limitarse a un organo o ser diseminada. Palabras clave: histiocitosis de celulas de Langerhans, histiocitosis congenita. Dermatol. Argent. 2019, 25 (2): 81-83 Langerhans cell histiocytosis congenital with single lesion Abstract Langerhans cell histiocytosis have as a common characteristic the proliferation of dendritic antigen presenting cells with phenotypical and ultrastructural characteristics of Langerhans cells. Infiltration may be limited to one organ or may be disseminated. Key words: Langerhans cell histiocytosis, congenital histiocytosis. Dermatol. Argent. 2019, 25 (2): 81-83
Research Interests:
Summary Lumbosacral and perineal hemangiomas associated with congenital anomalies and lumbar dysraphism has been known by the acronym PELVIS, LUMBAR or SACRAL. This combination of malformations is explained by the common embryological... more
Summary Lumbosacral and perineal hemangiomas associated with congenital anomalies and lumbar dysraphism has been known by the acronym PELVIS, LUMBAR or SACRAL. This combination of malformations is explained by the common embryological origin of the involved structures. We report two patients with hemangiomas in the lumbosacral and perineal region, one of them with amniotics flanges and the other with extensive vascular anomaly in the lower limb. The knowledge of the defects associated with lumbosacral and perineal hemangiomas is essential for their diagnosis and treatment.
Research Interests:
The aim of the present study was to investigate the effects of the alpha2-adrenoceptor antagonist yohimbine on blood pressure and heart rate (HR) regulation, as well as on adrenergic and serotoninergic neurotransmission, in fructose... more
The aim of the present study was to investigate the effects of the alpha2-adrenoceptor antagonist yohimbine on blood pressure and heart rate (HR) regulation, as well as on adrenergic and serotoninergic neurotransmission, in fructose hypertensive (F) rats. The anterior hypothalamic area of control (C) and F rats was perfused with Ringer's solution containing 10 and 100 microg/mL yohimbine through a microdialysis concentric probe. The effects of yohimbine on mean arterial pressure (MAP) and HR, as well as on hypothalamic dihydroxyphenylacetic acid (DOPAC) and 5-hydroxyindole acetic acid (5-HIAA) levels, were measured according to perfusion time. Although intrahypothalamic perfusion of yohimbine increased blood pressure in C rats (DeltaMAP 9 +/- 1 and 11 +/- 2 mmHg for 10 and 100 microg/mL yohimbine, respectively; P < 0.05 vs Ringer's perfusion), the alpha-adrenoceptor antagonist did not modify MAP in F. Intrahypothalamic yohimbine had no effect on HR at either concentration...
Research Interests:
RESUMEN: El lupus eritematoso neonatal (LEN) es una enfermedad poco frecuente del recien nacido debida al paso transplacentario de anticuerpos maternos anti RO/SSA, anti LA/SSB y/o anti U1RNP, en la cual las afectaciones cutaneas y... more
RESUMEN: El lupus eritematoso neonatal (LEN) es una enfermedad poco frecuente del recien nacido debida al paso transplacentario de anticuerpos maternos anti RO/SSA, anti LA/SSB y/o anti U1RNP, en la cual las afectaciones cutaneas y cardiacas son las mas destacadas. Presentamos un caso de una nina con manifestaciones dermatologicas y cardiacas tratadas en el Hospital General de Ninos Pedro de Elizalde, fiija de madre asintomatica. Palabras clave: lupus eritematoso neonatal.
Resumen es: La estenosis esofagica congenita, una entidad rara de causa desconocida cuyos reportes han aumentado en los ultimos anos, requiere un alto indice de sosp...
Resumen La pigmentacion macular eruptiva idiopatica (PMEI) afecta principalmente a ninos y adolescentes. Se caracteriza por manchas ovales diseminadas, de color cafe claro o gris pizarra, asintomaticas, de evolucion cronica, involucion... more
Resumen La pigmentacion macular eruptiva idiopatica (PMEI) afecta principalmente a ninos y adolescentes. Se caracteriza por manchas ovales diseminadas, de color cafe claro o gris pizarra, asintomaticas, de evolucion cronica, involucion espontanea y etiologia desconocida. Se realizo un estudio retrospectivo y descriptivo, de corte transversal, mediante la revision de las historias clinicas y archivos histologicos de pacientes con diagnostico de PMEI correspondientes al periodo que va de noviembre de 2006 a julio de 2009. En el lapso estudiado se diagnostico PMEI en siete pacientes. Rango de edad: 5-18 anos (media:10,14 anos), sexo femenino (100%). No se observaron antecedentes relacionados con la patologia. El tiempo de evolucion vario entre 1 y 36 meses (media: 11,28 meses) a partir del momento de la consulta. El seguimiento posterior se realizo en 4 casos, y 3 no regresaron a control. En todos los casos se realizaron estudios histopatologicos, en los cuales se observaron los criter...
Research Interests: Folia and Dermatología
Porokeratosis is a heterogeneous group of disorders in epidermal keratinization. It is an infrequent entity characterized clinically by hyperkeratotic papules that converge forming annular plaques with an atrophic center and raised... more
Porokeratosis is a heterogeneous group of disorders in epidermal keratinization. It is an infrequent entity characterized clinically by hyperkeratotic papules that converge forming annular plaques with an atrophic center and raised borders. There are six clinical variants. The histopathological examination evidences the typical cornoid lamella. We present a 2-year-old girl diagnosed with porokeratosis of Mibelli and partial response to topical treatment of tretinoin 0,025%, still under clinical control.
Research Interests:
Acquired tracheal stenosis is a very infrequent lesion in the pediatric age group and may be due to diverse causes, being post-intubation stenosis and stenosis secondary to tracheostomy the most common ones. The management of acquired... more
Acquired tracheal stenosis is a very infrequent lesion in the pediatric age group and may be due to diverse causes, being post-intubation stenosis and stenosis secondary to tracheostomy the most common ones. The management of acquired tracheal stenosis remains controversial. Endoscopic treatment provides immediate relief of symptoms but it is associated with a high recurrence rate, and the use of endoluminal prostheses can increase the length of the stricture complicating future surgery. Conversely, good long-term results have been documented with tracheal resection and primary anastomosis. We describe our experience with tracheal resection followed by end-to-end anastomosis for the treatment of post-intubation tracheal stenosis in 8 patients.
Pancreatoblastoma is a rare paediatric malignant neoplasm. The treatment of choice is complete surgical resection. However, it is often unresectable due to its large size, local infiltration or distant metastasis. Since the condition is... more
Pancreatoblastoma is a rare paediatric malignant neoplasm. The treatment of choice is complete surgical resection. However, it is often unresectable due to its large size, local infiltration or distant metastasis. Since the condition is rare, there is currently no standard treatment regimen. We outline the case of a 4-year-old child who presented with abdominal pain and distention, together with an enlarged liver and elevated serum α-fetoprotein levels. Imaging studies showed the presence of an abnormal pancreatic tumour and multiple nodular lesions in the liver, the biopsies from which led to a diagnosis of pancreatoblastoma. In this case, the patient received cycles of neoadjuvant chemotherapy, combining cisplatin and doxorubicin. The patient subsequently underwent scheduled surgery in which the primary pancreatic lesion was resected, obtaining a circumscribed and nodular specimen measuring 7 × 6 cm and weighing 150 g. Given the extent of the metastasis, the child is currently awa...
The extra-adrenal paraganglioma is a neoplasm originating in regional structures, uncommon in paediatrics. We report on a case of a 13-year-old patient who began with severe arterial hypertension, tachycardia, dilated cardiomyopathy and... more
The extra-adrenal paraganglioma is a neoplasm originating in regional structures, uncommon in paediatrics. We report on a case of a 13-year-old patient who began with severe arterial hypertension, tachycardia, dilated cardiomyopathy and elevated levels of catecholamines in the blood and urine. The presence of a retrovesical pelvic mass in contact with the right vaginal dome was determined by imaging studies. A diagnosis of malignant extra-adrenal pelvic paraganglioma with lymph node metastases was reached through biopsy and the surgical resection of subsequent local recurrences. Paragangliomas are usually located in the paravertebral zones from the base of the skull to the retroperitoneum and are benign in 90% of cases. This kind of neoplasia is uncommon in paediatrics, especially those located in the pelvis. In cases of masses of a gynaecological origin, a differential diagnosis should be considered, and a histological and immunohistochemical study is essential in certifying the di...
The extra-adrenal paraganglioma is a neoplasm originating in regional structures, uncommon in paediatrics. We report on a case of a 13-year-old patient who began with severe arterial hypertension, tachycardia, dilated cardiomyopathy and... more
The extra-adrenal paraganglioma is a neoplasm originating in regional structures, uncommon in paediatrics. We report on a case of a 13-year-old patient who began with severe arterial hypertension, tachycardia, dilated cardiomyopathy and elevated levels of catecholamines in the blood and urine. The presence of a retrovesical pelvic mass in contact with the right vaginal dome was determined by imaging studies. A diagnosis of malignant extra-adrenal pelvic paraganglioma with lymph node metastases was reached through biopsy and the surgical resection of subsequent local recurrences. Paragangliomas are usually located in the paravertebral zones from the base of the skull to the retroperitoneum and are benign in 90% of cases. This kind of neoplasia is uncommon in paediatrics, especially those located in the pelvis. In cases of masses of a gynaecological origin, a differential diagnosis should be considered, and a histological and immunohistochemical study is essential in certifying the di...