Hamartoma fibroso de la infancia umbilical: reporte de un caso / Umbilical fibrous hamartoma of infancy: a case report

Resumen: Introducción: el hamartoma fibroso de la infancia (HFI) es un tumor benigno de partes blandas que se presenta generalmente en población infantil y que posee una morfología histológica característica. Objetivo: describir un caso de HFI congénito de características clínicas e histológicas atípicas. Caso Clínico: recién nacido de término, sexo masculino, sin antecedentes mórbidos perinatales, es deriva do a dermatología por placa eritematosa congénita en región umbilical. Estudio histológico evidenció proliferación fusocelular en dermis e hipodermis, de morfología bifásica, con un patrón arremolina do infiltrante y otro de bandas de células fusadas con hábitos fibroblásticos y miofibroblásticos, aso ciada en profundidad a un componente de tejido adiposo maduro. El estudio inmunohistoquímico mostró positividad difusa a CD34 y focalmente para FXIIIa, con ausencia de inmunoreactividad a ac- tina, desmina, MyoD1, S100, HMB45, Melan A y EMA. Fluorescent in situ hybridization (FISH) para platelet-derived growth factor beta (PDGF beta) y para el gen ETV6 negativos, presentes en el dermatofibrosarcoma protuberans congénito y fibrosarcoma infantil, respectivamente. Estos antecedentes, sumado a los hallazgos histológicos previos, apoyaron el diagnóstico de HFI. Se realizó extirpación quirúrgica, sin signos de recidiva durante el seguimiento clínico. Conclusión: es importante consi derar el HFI dentro del diagnóstico diferencial de tumores subcutáneos infantiles, principalmente en población menor de 2 años. Si bien su comportamiento es benigno, presenta similitud con múltiples lesiones benignas y malignas, lo que hace imperativo realizar un estudio histológico exhaustivo ante lesiones clínicas sospechosas.

Abstract: Introduction: Fibrous hamartoma of infancy (FHI) is a benign, soft tissue tumor that usually oc curs in children and has a characteristic histological morphology. Objective: To describe a case of congenital FHI with atypical histological and clinical characteristics. Clinical case: Full-term male newborn, with no perinatal morbid history was referred to dermatology due to a congenital erythe matous plaque in the umbilical region. The histological study showed a fusocelullar proliferation in dermis and hypodermis of biphasic distribution, with an infiltrative, swirling pattern and bundles of spindle fibroblast-like and myofibroblast-like cells, associated in depth with a mature adipose tissue component. The immunohistochemical study revealed diffuse positivity for CD34, and focal posi tivity for FXIIIa, without immunoreactivity for actin, desmin, MyoD1, S100, HMB45, Melan-A, or EMA. Fluorescent in situ hybridization (FISH) was negative for platelet-derived growth factor recep tor beta (PDGFR-beta) and for ETV6 gene. PDGFR-beta and ETV6 gene are present in congenital dermatofibrosarcoma protuberans and infantile fibrosarcoma, respectively. This history, in addition to previous histological findings, supported the diagnosis of FHI. Surgical resection was performed, without signs of recurrence during clinical follow-up. Conclusion: It is important to consider the FHI within the differential diagnosis of subcutaneous tumors in children, especially in those under two years of age. Although its behavior is benign, it is similar to multiple benign and malignant le sions, which makes it imperative to perform a histological study in front of suspicious clinical lesions.

A Case of Congenital Infantile Fibrosarcoma of Sigmoid Colon Manifesting as Pneumoperitoneum in a Newborn

Congenital infantile fibrosarcoma (CIF) is a rare soft-tissue tumor in the pediatric age group and seldom involves the gastrointestinal tract. A 2-day-old boy was transferred to our hospital with a pneumpoperitoneum. After emergency operation, we could find a solid mass wrapping around a sigmoid colon and performed a segmental resection of sigmoid colon including a mass. Histopathologic examination showed an infantile fibrosarcoma origining from the muscular layer of colon. The baby was discharged on the 17th hospital day and followed for 1 yr without recurrence.

Fibrossarcoma congênito: relato de caso / Congenital fibrosarcoma: case report

Os autores relatam caso de fibrossarcoma congênito de partes moles localizado na perna, diagnosticado em criança aos dois meses de idade. Descrevem o tratamento, a evoluçao favorável após seguimento de seis anos e tecem comentários a respeito dessa patologia.

Congenital fibrosarcoma. Report of three cases.

Congenital/Infantile Fibrosarcomas are relatively rare soft tissue tumours. Only 238 cases have been reported till 1986 in the world literature of which 60 were truly congenital. A distinction must be made between them and their adult counterparts because of differences in their clinical behaviour. The authors report three cases and highlight their biological behaviour. Despite having an aggressive histological appearance they have a relatively benign course.

Congenital plexiform neurofibroma with a sarcomatous nodule in a three month old child.

Congenital plexiform neurofibroma is regarded as pathognomonic of neurofibromatosis (NF) especially when it is large and involves a major nerve trunk with changes of elephantiasis neuromatosa. Only very rarely malignant changes have been reported in cases who have NF for less than 5 years. 'Borderline' lesions are seen especially in patients with NF. In such cases criteria of mitotic activity should be utilized in establishing the diagnosis of malignancy. A case of 3 month child with congenital plexiform neurofibroma involving neck with elephantiasis neuromatosa with sarcomatous nodule has been described in the present article. The criteria for malignancy in nerve sheath tumors have also been discussed.

Metastasising congenital subcutaneous sacrococcygeal ependymoma.

A case of myxopapillary ependymoma located subcutaneously in sacrococcygeal area of a 18 months male child with metastasis to right inguinal lymph nodes is described; the tumour was present since birth. Histological examination of the tumour besides myxopapillary structures, also revealed an ependyma lined cystic space, resembling ventricular cavity. So far only two cases of congenital metastasising subcutaneous sacrococcygeal ependymoma have been described. However, the present case had a very aggressive post-operative biological behaviour.