Pulmonary glial heterotopia in a child diagnosed with fanconi anemia and epilepsy.

BACKGROUND: Pulmonary glial heterotopia is rare and its pathogenesis is still obscure as for Fanconi anemia (FA). OBSERVATION: This study describes a very rare case of an incidental finding of pulmonary glial heterotopia in a girl diagnosed with FA, epilepsy, and mental retardation. Before this report, the association of pulmonary glial heterotopia and FA had not been described. CONCLUSIONS: The unique finding in this patient could be a link between FA and abnormal cell migration, but it certainly teaches us that there is still much to be learnt of the molecular mechanisms underlying the clinical manifestations in FA.

Primary cutaneous anaplastic large cell lymphoma of the nasal tip in a child.

A 4-year-old boy with primary cutaneous anaplastic large cell lymphoma located on the nasal tip is presented. The lesion healed spontaneously in 4 months without any evidence of residual disease. Cutaneous anaplastic large cell lymphoma, though rare in children, may occur, and should be considered when a rapidly growing ulcerating skin lesion appears.

Systemic juvenile xanthogranuloma with fatal outcome.

Juvenile xanthogranuloma is a benign and self-limited disease which usually appears in the skin of children. Visceral involvement has been rarely reported, as has fatal outcome in some affected individuals. We report a case of systemic juvenile xanthogranuloma in a female newborn with mainly skin, bone marrow, and liver involvement, leading to death at the age of 2 months.

Long bone florid reactive periostitis ossificans: a case in the distal femur mimicking osteosarcoma.

Florid reactive periostitis ossificans is a well-known benign lesion classically described in hands and feet which histopathological features can lead to a misdiagnosis of osteosarcoma. To the best of our knowledge, there is only one previous report of this lesion in a long bone. In this study we report a case of florid reactive periostitis ossificans located in the distal metaphysis of the left femur that histologically mimicked an osteosarcoma and discuss the differential diagnosis between these two entities to warn about a diagnostic pitfall.

Cholecystokinin down-regulation by RNA interference impairs Ewing tumor growth.

PURPOSE: Tumors of the Ewing family are characterized by chromosomal translocations that yield chimeric transcription factors, such as EWS/FLI1, which regulate the expression of specific genes that contribute to the malignant phenotype. In the present study, we show that cholecystokinin (CCK) is a new target of the EWS/FLI1 oncoprotein and assess its functional role in Ewing tumor pathogenesis. EXPERIMENTAL DESIGN: Relevant EWS/FLI1 targets were identified using a combination of cell systems with inducible EWS/FLI1 expression, Ewing tumors and cell lines, microarrays, and RNA interference with doxycycline-inducible small hairpin RNA (shRNA) vectors. A doxycycline-inducible CCK-shRNA vector was stably transfected in A673 and SK-PN-DW Ewing cell lines to assess the role of CCK in cell proliferation and tumor growth. RESULTS: Microarray analysis revealed that CCK was up-regulated by EWS/FLI1 in HeLa cells. CCK was overexpressed in Ewing tumors as compared with other pediatric malignancies such as rhabdomyosarcoma and neuroblastoma, with levels close to those detected in normal tissues expressing the highest levels of CCK. Furthermore, EWS/FLI1 knockdown in A673 and SK-PN-DW Ewing cells using two different doxycycline-inducible EWS/FLI1-specific shRNA vectors down-regulated CCK mRNA expression and diminished the levels of secreted CCK, showing that CCK is a EWS/FLI1 specific target gene in Ewing cells. A doxycycline-inducible CCK-specific shRNA vector successfully down-regulated CCK expression, reduced the levels of secreted CCK in Ewing cell lines, and inhibited cell growth and proliferation in vitro and in vivo. Finally, we show that Ewing cell lines and tumors express CCK receptors and that the growth inhibition produced by CCK silencing can be rescued by culturing the cells with medium containing CCK. CONCLUSIONS: Our data support the hypothesis that CCK acts as an autocrine growth factor stimulating the proliferation of Ewing cells and suggest that therapies targeting CCK could be promising in the treatment of Ewing tumors.

Erythema dyschromicum perstans in children: a report of 14 cases.

BACKGROUND: Erythema dyschromicum perstans (EDP) or ashy dermatosis is a peculiar, slowly progressive, macular hyperpigmentation, which leaves a permanent discoloration. It is an acquired dermatosis that occurs most frequently in Central and South America. EDP usually appears in adults, but some isolated cases and small series have been reported in prepubertal children. METHODS: A retrospective review of cases of EDP in 10-year-old children or younger, attended in a pediatric hospital between 1990 and 2003. RESULTS: We present 14 cases of EDC in children 10 years and younger. With an additional 25 cases reported so far in the English language literature, a total of 39 children have been described. Unlike adult patients, who are most commonly of Hispanic origin, children with EDP are usually Caucasian. Other important facts in children with EDP are the absence of consistent trigger factors and an eventual improvement or resolution of the lesions in 50% of prepubertal patients. CONCLUSION: We suggest that EDP is a distinctive clinical entity, different from lichen planus and lichen planus pigmentosus, which may be identical to the so-called idiopathic eruptive macular pigmentation.

Rabdomiosarcoma botrioides congénito de vulva / Congenital botryoid rhabdomyosarcoma of the vulva

El rabdomiosarcoma es el tumor maligno de partes blandas más frecuente en la edad pediátrica; sin embargo, la localización vulvar y la aparición congénita son excepcionales. Presentamos el caso de una niña recién nacida con un rabdomiosarcoma botrioides de vulva tratada con quimioterapia, cirugía conservadora y trasplante autólogo. El rabdomiosarcoma botrioides es una variante del tipo embrionario que crece típicamente en órganos huecos con revestimiento mucoso desde donde puede extenderse hacia la superficie corporal. El tratamiento del rabdomiosarcoma botriodes del área genitourinaria se basa en la poliquimioterapia y, si es necesario, se puede complementar con radioterapia y cirugía conservadora, consiguiéndose de este modo un pronóstico excelente y escasas secuelas funcionales a largo plaz

Rhabdomyosarcoma is the most frequent malignant soft tissue tumor in pediatric patients; however, the vulvar location and congenital appearance are exceptional. We present the case of a newborn girl with botryoid rhabdomyosarcoma of the vulva, treated with chemotherapy, conservative surgery and autologous transplant. Botryoid rhabdomyosarcoma is a variation of embryonal rhabdomyosarcoma that typically grows in mucosa-lined hollow organs, from where it can spread to the body surface. The treatment of botryoid rhabdomyosarcoma in the genito-urinary area is based on polychemotherapy, and it can be complemented with radiotherapy and conservative surgery if necessary, thus resulting in an excellent prognosis and few long-term functional sequelae

[Congenital botryoid rhabdomyosarcoma of the vulva]. / Rabdomiosarcoma botrioides congénito de vulva.

Rhabdomyosarcoma is the most frequent malignant soft tissue tumor in pediatric patients; however, the vulvar location and congenital appearance are exceptional. We present the case of a newborn girl with botryoid rhabdomyosarcoma of the vulva, treated with chemotherapy, conservative surgery and autologous transplant. Botryoid rhabdomyosarcoma is a variation of embryonal rhabdomyosarcoma that typically grows in mucosa-lined hollow organs, from where it can spread to the body surface. The treatment of botryoid rhabdomyosarcoma in the genito-urinary area is based on polychemotherapy, and it can be complemented with radiotherapy and conservative surgery if necessary, thus resulting in an excellent prognosis and few long-term functional sequelae.

Aleukemic congenital leukemia cutis.

A newborn girl had typical "blueberry muffin" skin lesions, which showed histopathologic features of myelomonocytic leukemia cutis. We could not demonstrate leukemic infiltration of bone marrow in four aspirates. Her course was complicated with primary pulmonary hypertension, which led to death at 7 months of age. We emphasize the persistence of skin lesions in the absence of bone marrow infiltration by leukemia throughout the course of the disease.

Fibromatosis hialina juvenil / Juvenile hyaline fibromatosis

La fibromatosis hialina juvenil (FHJ) es una displasia mesenquimatosa de herencia autosómica recesiva que aparece en la infancia precoz o en la adolescencia, de la que se han descrito tan sólo unos 65 casos. Se caracteriza clínicamente por lesiones cutáneas, hipertrofia gingival, contracturas en flexión de las grandes articulaciones y lesiones óseas. Las lesiones de la piel consisten en múltiples tumores, comúnmente localizados en cuero cabelludo y alrededor de la nariz y pequeñas pápulas perladas y placas localizadas en tronco, mentón, orejas y alrededor de los orificios nasales. La FHJ se caracteriza por una síntesis anómala de colágeno que se deposita como material hialino en el tejido conjuntivo de la piel, encías y menos frecuentemente en los huesos y en las articulaciones. Presentamos el caso de una niña de 15 meses de edad con severas contracturas articulares y lesiones cutáneas características de la FHJ (AU)

Lupus eritematoso neonatal en dos hermanas gemelas / Neonatal lupus erythematosus in twin sisters

El lupus eritematoso neonatal (LEN) es una entidad rara asociada al paso transplacentario de autoanticuerpos IgG maternos a la circulación fetal. Clínicamente se presenta con lesiones cutáneas similares al lupus eritematoso y/o afectación del sistema de conducción cardíaca. Se presenta el caso de dos gemelas biamnióticas, bicoriónicas, clínicamente concordantes, con LEN cutáneo asociado a anticuerpos anti-Ro, cuyos títulos fueron disminuyendo hasta desaparecer en el primer año de vida. Las lesiones cutáneas se resolvieron con corticoides tópicos de baja potencia. Son pocos los casos de LEN descritos en gemelos, y éstos pueden presentar sintomatología concordante o, con mayor frecuencia, discordante entre ellos. Este hecho refleja la complejidad de esta entidad, en la que posiblemente estén implicados factores inmunológicos, genéticos y otros aún no conocidos (AU)

Condrodisplasia puntiforme dominante ligada a cromosoma X / X-Linked dominant chondrodysplasia punctata

Se presenta el caso de una niña afectada con condrodisplasia puntiforme (punctata) dominante ligada a cromosoma X (CPDX2), con importantes deformidades osteoarticulares, y cuyas lesiones cutáneas se manifestaron en forma de eritrodermia ictiosiforme, para delimitarse posteriormente en ictiosis lineal. La CPDX2, también denominada síndrome de Happle, se debe a mutaciones en el gen de la proteína ligadora de emopamil, que convierte el colesterol-8(9)-3-β-ol en lanosterol (AU)

Schamberg's purpura in children: a review of 13 cases.

BACKGROUND: Schamberg's purpura (progressive pigmentary dermatosis or pigmented purpuric dermatosis) is uncommonly described in preadolescent children. PATIENTS AND METHODS: A retrospective review of cases of Schamberg's purpura with onset before 10 years of age was undertaken. Clinical and histopathologic data, as well as analytical studies including hemogram, erythrocyte sedimentation rate, serum chemistry, urinalysis, cryoglobulins, and screening for thrombotic and clotting disorders were recorded. RESULTS: A total of 13 patients (3 male and 10 female) from 1 to 9 years of age (median, 5 years) had the typical cutaneous features of Schamberg's purpura. The lower limbs were affected in all patients. Lesions were unilateral in 3 cases. In 4 patients, lesions faded within 1 to 4 years, and in 1 patient lesions improved after 6 years. In 8 patients lesions persisted 1 to 7 years after. Laboratory studies were normal in all patients. CONCLUSION: Schamberg's purpura is a chronic benign form of pigmented purpura which is occasionally seen before puberty.

Nevoid hypertrichosis and hypomelanosis.

A girl with multiple lesions of nevoid hypertrichosis and linear hypopigmentation following Blaschko's lines is presented. She had no extracutaneous anomalies. We hypothesize that this unusual coexistence of skin lesions may represent a further example of "twin spotting".

Early onset of acute immune-mediated lung injury in a child undergoing allogeneic peripheral blood transplantation.

Animal models have recently clarified the lung injury after allogeneic hematopoietic transplantation. These works have confirmed the role of donor T lymphocytes in immune-mediated inflammatory reactions in the lung. We report here a fatal case of a 3-year-old child who developed acute respiratory failure coinciding with the onset of hyper-acute graft versus host disease (aGVHD) after allogeneic peripheral stem cell transplantation. aGVHD was refractory to treatment and the patient died on day +28. Lung necropsy showed interstitial pneumonia and peribronchial and perivascular infiltration by mononuclear cells, with no viral inclusions. These findings are not specific but have been found by some authors in animal models with acute immune-mediated lung injury related with donor T lymphocytes. Immune-mediated lung injury, as defined by animal models, should be considered in patients with severe signs of systemic aGVHD while excluding other known etiologies of pulmonary disease.

Eritroqueratodermia simétrica progresiva generalizada / Generalized progressive symmetric erythrokeratoderma

Un varón afecto de eritroqueratodermia simétrica progresiva desde poco después del nacimiento experimentó a los 17 años de edad una extensión por toda la superficie corporal, con un fenotipo de eritrodermia ictiosiforme congénita. La eritroqueratodermia simétrica progresiva suele mantenerse estable a lo largo de la vida o mejorar hacia la pubertad, siendo excepcional su extensión por toda la piel (AU)

Xantogranuloma juvenil múltiple y neurofibromatosis tipo I. Presentación de dos casos y revisión de la literatura / Multiple juvenile xanthogranuloma and neurofibromatosis I. Report of 2 cases en review of the literature

La asociación de xantogranulomas juvenil (XGJ) múltiple y neurofibromatosis (NF) es bien conocida, aunque el número de casos descritos es pequeño. Los pacientes con esta asociación parecen tener un mayor riesgo de padecer leucemia mieloide crónica juvenil. Presentamos los casos de dos niños con XGJ múltiple y NF que fueron seguidos durante 2 y 9 años en los que se apreció una desaparición de los xantogranulomas mientras que aparecían nuevas manchas café con leche en el primer caso y varios neurofibromas cutáneos en el segundo. No se apreció ninguna otra anomalía asociada. Revisamos la literatura sobre esta asociación (AU)

Tratamiento de larga duración con retinoides orales de la psoriasis pustulosa generalizada infantil. Presentación de tres casos / Long-term oral retinoid therapy of generalized pustular psoriasis in infants. A report of three cases

Se presentan los casos de tres niños con psoriasis pustulosa generalizada (PPG) grave de comienzo en los primeros meses de vida que han sido tratados con retinoides orales durante un período largo de tiempo (46 meses a 14 años). Este tratamiento fue muy eficaz y estuvo exento de efectos adversos de importancia. El tratamiento de la PPG infantil grave con etretinato o acitretina orales constituye una buena alternativa, potencialmente menos tóxica que otros fármacos como metotrexate o ciclosporina (AU)

Granuloma anular perforante generalizado asociado a colestasis crónica / Disseminated perforating granuloma annulare associated to chronic cholestasis

Un varón de 11 años, con colestasis intrahepática marcada desde el período neonatal, presentaba un granuloma anular perforante (GAP) generalizado por tronco y extremidades. Aunque el GAP puede asociarse a diversas enfermedades, no tenemos noticias de que se haya publicado su asociación a colestasis intrahepática. El intenso prurito de la colestasis y el rascado subsiguiente podrían tener algún papel en el desarrollo del GAP (AU)