RESUMO
Spindle cell and sclerosing rhabdomyosarcoma (ssRMS) is a rare variant of rhabdomyosarcoma, which includes three distinct subtypes. In infants, these tumors are commonly associated with recurring fusions involving VGLL2 or NCOA2 and have a favorable prognosis. We present four cases of ssRMS and 16 additional cases from the literature, which show that these patients present with localized disease and have an excellent prognosis regardless of surgical margin or lack of radiation therapy. Molecularly defined spindle cell rhabdomyosarcoma in infants is likely a biologically distinct entity which may not require the aggressive multimodal treatment used for other subtypes of rhabdomyosarcoma.
Assuntos
Rabdomiossarcoma Embrionário/congênito , Neoplasias de Tecidos Moles/congênito , Amputação Cirúrgica , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimioterapia Adjuvante , Terapia Combinada , Ciclofosfamida/administração & dosagem , Dactinomicina/administração & dosagem , Extremidades/patologia , Feminino , Doenças do Pé/congênito , Doenças do Pé/tratamento farmacológico , Doenças do Pé/genética , Doenças do Pé/cirurgia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/tratamento farmacológico , Doenças do Prematuro/genética , Doenças do Prematuro/cirurgia , Masculino , Coativador 2 de Receptor Nuclear , Proteínas de Fusão Oncogênica/genética , Indução de Remissão , Rabdomiossarcoma Embrionário/tratamento farmacológico , Rabdomiossarcoma Embrionário/genética , Rabdomiossarcoma Embrionário/cirurgia , Neoplasias de Tecidos Moles/tratamento farmacológico , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/cirurgia , Fatores de Transcrição de Domínio TEA , Coxa da Perna , Neoplasias Torácicas/congênito , Neoplasias Torácicas/tratamento farmacológico , Neoplasias Torácicas/genética , Neoplasias Torácicas/cirurgia , Parede Torácica/patologia , Vincristina/administração & dosagemRESUMO
A 5-year-old caucasian child is described with a congenital melanocytic periungual and subungual nevus on the right second toe. Histopathologic examination revealed a junctional nevus. Congenital subungual nevi in this location are rare. To the best of our knowledge, this represents the first case of lesion on the right second toe to be reported in the literature.
Assuntos
Doenças do Pé/congênito , Nevo Pigmentado/congênito , Neoplasias Cutâneas/congênito , Pré-Escolar , Feminino , Humanos , UnhasAssuntos
Dermoscopia , Doenças do Pé/diagnóstico por imagem , Nevo Pigmentado/diagnóstico por imagem , Adolescente , Adulto , Criança , Feminino , Doenças do Pé/congênito , Doenças do Pé/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Nevo Pigmentado/congênito , Nevo Pigmentado/patologia , Adulto JovemRESUMO
BACKGROUND: The aim of this report was to describe the clinical signs, diagnostic approach, treatment and outcome in the case of a tiger with a deformity of the paw. CASE PRESENTATION: A 1.5-year-old tiger (Panthera tigris) was presented with lameness of the left thoracic limb. A deformity involving the first and second metacarpal bones, and a soft tissue separation between the second and third metacarpal bones of the left front paw were observed. The second digit constantly struck the ground during locomotion. Based on the physical and radiographic evaluations, a diagnosis of ectrodactyly was made. A soft tissue reconstruction of the cleft with excision of both the second digit and distal portion of the second metacarpal bone was performed. Marked improvement of the locomotion was observed after surgical treatment, although the tiger showed a low degree of lameness probably associated with the discrepancy in length between the thoracic limbs. CONCLUSION: This report shows a rare deformity in an exotic feline that it is compatible to ectrodactyly. Reconstructive surgery of the cleft resulted in significant improvement of limb function.
Assuntos
Doenças do Pé/congênito , Deformidades Congênitas dos Membros/veterinária , Tigres/anormalidades , Animais , Doenças do Pé/cirurgia , Coxeadura Animal , Deformidades Congênitas dos Membros/patologia , Deformidades Congênitas dos Membros/cirurgia , MasculinoAssuntos
Fibroma/diagnóstico , Doenças do Pé/diagnóstico , Síndrome de Gardner/complicações , Hamartoma/diagnóstico , Lipoma/diagnóstico , Adulto , Feminino , Fibroma/congênito , Doenças do Pé/congênito , Síndrome de Gardner/genética , Genes APC , Mutação em Linhagem Germinativa , Hamartoma/congênito , Humanos , Lipoma/congênito , Masculino , Pessoa de Meia-IdadeRESUMO
Infantile fibrosarcoma represents less than 1% of all childhood cancers, but it is the most common soft-tissue sarcoma in those under 1 year of age. We report an infant with congenital infantile fibrosarcoma diagnosed as hemangiopericytoma. He was treated with chemotherapy and extremity-sparing surgery. Amputation was avoided.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica , Fibrossarcoma/tratamento farmacológico , Fibrossarcoma/cirurgia , Doenças do Pé/congênito , Hemangiopericitoma/tratamento farmacológico , Hemangiopericitoma/cirurgia , Doxorrubicina/administração & dosagem , Fibrossarcoma/congênito , Doenças do Pé/tratamento farmacológico , Doenças do Pé/cirurgia , Hemangiopericitoma/congênito , Humanos , Ifosfamida/administração & dosagem , Recém-Nascido , Masculino , Vincristina/administração & dosagemRESUMO
We report 3 cases of otherwise healthy infants with nodules on their soles. The nodules were present at birth or developed in early childhood. This condition has first been described in 1977 and was termed precalcaneal congenital fibrolipomatous hamartoma (PCFH). Since then the same entity has been reported under various denominations. The incidence of PCFH is underestimated, and it is important to recognize the benign nature of this disorder.
Assuntos
Doenças do Pé/diagnóstico , Hamartoma/diagnóstico , Adolescente , Pré-Escolar , Diagnóstico Diferencial , Feminino , Doenças do Pé/congênito , Doenças do Pé/patologia , Hamartoma/congênito , Hamartoma/patologia , Calcanhar , Humanos , Lactente , MasculinoAssuntos
Doenças do Pé/congênito , Hamartoma/congênito , Lipoma/congênito , Calcanhar , Humanos , Recém-Nascido , MasculinoRESUMO
Calcaneonavicular coalition and the "too long" anterior process (TLAP) of the calcaneus can manifest as lateral foot pain, peroneal spastic flatfoot, and repeated ankle sprain. Surgical resection of the bone bar is frequently required. We present here an arthroscopic approach that can be used to accurately assess pathoanatomy and resect the bone bar. A portal is established slightly dorsal to the angle of Gissane. This is the primary visualization portal. The working portal, which is identified under an image intensifier, is located at the space between the talonavicular and calcaneocuboid joints, directly over the TLAP or the calcaneonavicular coalition. With the 2.7-mm 30 degrees arthroscope placed at the primary visualization portal, soft tissue around the TLAP or the calcaneonavicular coalition is cleared up with the use of an arthroscopic shaver at the working portal. After the TLAP or the calcaneonavicular coalition is clearly visualized, it can be resected with an arthroscopic burr through the working portal. The bone bar is resected proximally until the medial side of the calcaneocuboid joint, the lateral side of the taloavicular joint, and the plantar-lateral aspect of the talar head are clearly seen. Inversion stress should then be applied to the foot to prevent further impingement of the anteromedial process of the calcaneus to the plantar-lateral part of the talar head.
Assuntos
Artroscopia , Calcâneo/cirurgia , Doenças do Pé/cirurgia , Calcâneo/anormalidades , Doenças do Pé/congênito , Humanos , Ossos do Tarso/anormalidadesAssuntos
Tecido Adiposo , Doenças do Pé/congênito , Hamartoma/congênito , Criança , Pré-Escolar , Feminino , Humanos , LactenteAssuntos
Doenças do Pé/congênito , Doenças do Pé/patologia , Hamartoma/congênito , Hamartoma/patologia , Feminino , Humanos , LactenteRESUMO
Lipoblastoma is a benign mesenchymal tumor of embryonic adipose tissue, uncommon in infancy. Multicentricity, absence of a capsule and histopathology best defines a lipoblastoma. Synonyms for this lesion are embryonic lipoma, fetal lipoma, lipoblastic tumor, and congenital lipomatoid tumor. Lipoblastoma is more common in males (approximately 80%), is usually located in the subcutaneous soft tissue (benign lipoblastoma) or in the deep interstitium (benign lipoblastomatosis), or sometimes in all corporeal segments. Primary treatment is complete excision. Relapse is between 14-25%, many of which are more "mature," and difficult to differentiate from lipoma. The differential diagnosis includes liposarcoma, which is rare under ten years. Radical excision in children is recommended with relapses, especially with lipoblastomatosis. Chromosomal markers help discriminate between liposarcoma and lipoblastoma.
Assuntos
Doenças do Pé/congênito , Perna (Membro)/patologia , Lipoma/congênito , Recidiva Local de Neoplasia/cirurgia , Neoplasias de Tecidos Moles/congênito , Feminino , Doenças do Pé/complicações , Doenças do Pé/cirurgia , Humanos , Hipertrofia , Recém-Nascido , Desigualdade de Membros Inferiores/etiologia , Lipoma/complicações , Lipoma/cirurgia , Imageamento por Ressonância Magnética , Reoperação , Neoplasias de Tecidos Moles/complicações , Neoplasias de Tecidos Moles/cirurgiaRESUMO
Imaging pediatric foot disorders is a challenging task. Optimally exposed and well-positioned radiographs can answer many questions. Because many bones may not be completely ossified, however, CT or MR imaging is often needed to provide additional information to assist in the management of congenital and acquired lesions in the foot.
Assuntos
Doenças do Pé/congênito , Doenças do Pé/diagnóstico , Adolescente , Neoplasias Ósseas/diagnóstico , Criança , Pré-Escolar , Pé Torto Equinovaro/diagnóstico , Diagnóstico por Imagem , Feminino , Pé Chato/diagnóstico , Humanos , Lactente , Masculino , Osteocondrite/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Tálus/anormalidadesRESUMO
BACKGROUND: Solitary histiocytoma is an uncommon form of Hashimoto-Pritzker syndrome and an exceptional type of histiocytosis with cells of undetermined origin. A solitary often ulcerated congenital nodule is generally observed. We report two cases, one of each form. CASE REPORTS: Both cases presented an ulcerative budding congenital tumefaction of the plantar aspect of the right foot for the first child and the parieto-axillary region in the second. Histology disclosed a granulomatous infiltrate of histiocytes positive for specific immunolabels (protein S100 and CD1a). In the first case, electron microscopy revealed histiocytes devoid of Birbeck granules and myelinoid bodies leading to the diagnosis of Langerhans histiocytosis with cells of unknown origin. In the second case, 18 p. 100 of the cells contained Birbeck granules. There has been no recurrence after a 5-year follow-up in a case. DISCUSSION: These cases recall the congenital nature of some types of solitary histiocytomas. Indeed, congenital Langerhans histiocytoma can occur as a unique nodule. The tumefaction may lie in any localization. Histological diagnosis is required. The benign nature of these lesions is confirmed by the absence of distant lesions and the lack of recurrence after complete excision. About a dozen cases have been reported. Most have been Hashimoto-Pritzker syndromes. Only one case has been reported with cells of undetermined origin. The diagnosis of histiocytosis with cells of undetermined origin is made when the ultrastructure study demonstrates the vacuity of the histiocyte cytoplasm. This condition is similar to Hashimoto-Pritzker syndrome by the absence of recurrence and systemic diffusion. It can however be observed in adults. The undetermined cell types would correspond different phases of Langerhans cell maturation or involution.
Assuntos
Doenças do Pé/congênito , Histiocitoma Fibroso Benigno/congênito , Neoplasias Cutâneas/congênito , Adulto , Pré-Escolar , Diagnóstico Diferencial , Seguimentos , Doenças do Pé/patologia , Doenças do Pé/cirurgia , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Benigno/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Pele/patologia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgiaRESUMO
A case of malignant haemangiopericytoma of the right foot in an infant is reported. Nodules were noticed on the foot at birth and these gradually increased in size to involve the whole foot on presentation at the age of ten months. With a working diagnosis of haemangioma, tumour excision and foot reconstruction was done. After histological diagnosis, ablation was offered but refused.
Assuntos
Doenças do Pé/congênito , Doenças do Pé/patologia , Hemangiopericitoma/congênito , Hemangiopericitoma/patologia , Amputação Cirúrgica , Biópsia , Criança , Doenças do Pé/cirurgia , Hemangiopericitoma/cirurgia , Humanos , Masculino , Pais/psicologia , Recusa do Paciente ao TratamentoRESUMO
We describe two boys with global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged fleshy ears, depressed nasal bridge, anteverted nostrils, central palatal ridge, and high forehead. Bilateral congenital fat pads are present anteromedial to the heels. Fetal finger and toe pads are present and palmar and plantar grooves are deeper than normal with "pillowing" of the areas between the grooves. No patients with similar clinical findings have been located, but these two children have a remarkably similar clinical presentation which we consider a "new" syndrome.
Assuntos
Deficiências do Desenvolvimento/genética , Doenças do Pé/genética , Lipomatose/genética , Criança , Pré-Escolar , Anormalidades Craniofaciais/genética , Dedos/anormalidades , Doenças do Pé/congênito , Deformidades da Mão/genética , Humanos , Deficiência Intelectual/genética , Lipomatose/congênito , Masculino , Microcefalia/genética , Distúrbios da Fala/genéticaRESUMO
Ciento cuarenta y cinco pies de 117 niños con pie equinovaro congénito (PEVAC), fueron operados de primera intención en nuestro hospital, en el periodo comprendido entre julio de 1991 y junio de 1994. En la actualidad no existe verdadera y acertada forma de clasificar el PEVAC, y de acuerdo con esto decidir el tipo de tratamiento adecuado. Las seleccion es subjetiva y depende en mucho de la visión del médico tratante; esto ha llevado a que se practiquen diferentes procedimientos (cirugía limitada, cirugía amplia) en pies con similares características y por consiguiente con resultados variados. Utilizando el sistema de evaluación de Simons, obtuvimos 88.8 por ciento de resultados satisfactorios mediante una liberación amplia, y 43.7 por ciento con la liberación posterior aislada, lo cual confirma nuestro comentario anterior. Actualmente estamos tomando en cuenta algunas características de los pies con lo cual hemos podido establecer parámetros que nos permitan seleccionar el procedimiento quirúrgico a realizar