Congenital spindle cell rhabdomyosarcoma.

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.

Magnetic resonance and radiographic imaging of a case of bilateral bipartite navicular bones in a horse.

CASE REPORT: We describe the radiographic and magnetic resonance imaging findings associated with a case of bilateral forelimb bipartite navicular disease in a 7-year-old Warmblood gelding used for eventing. In addition to the radiographically evident partitioned navicular bones, magnetic resonance imaging (MRI) also detected other concurrent abnormalities occurring within the foot that have not been described before in other cases of navicular bone partition. MRI not only revealed soft tissue lesions of the podotrochlear apparatus, but also allowed for more detailed characterisation of the recently diagnosed osseous navicular bone pathology. CONCLUSION: Knowledge of these additional changes influenced prognostication in this case and provides an explanation for why this condition usually results in such a poor prognosis for the return to previous levels of performance in athletic patients.

Periungual and subungual congenital melanocytic nevus on the foot: A rare case report.

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.

Dermoscopic characterization of longitudinal melanocytic lesions on acral skin / Caracterización dermatoscópica de lesiones melanocíticas longitudinales sobre la piel acral

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Congenital deformity of the paw in a captive tiger: case report.

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.

A newborn with infantile fibrosarcoma of foot: treatment with chemotherapy and extremity-sparing surgery.

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.

Precalcaneal congenital fibrolipomatous hamartomas: report of 3 additional cases and discussion of the differential diagnosis.

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.

Arthroscopic resection of the calcaneonavicular coalition or the "too long" anterior process of the calcaneus.

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.

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema.

OBJECTIVES: To report a rare case of primary congenital lymphedema (PCL) presenting as hydrops fetalis. METHODS: The patient presented at 33(+4) weeks' gestation with polyhydramnios, massive bilateral hydrothorax, skin edema, scalp edema and minimal ascites. In utero thoracocentesis was performed and delivery was induced. Follow-up at 12 months of age revealed moderate bilateral foot edema with otherwise normal development. RESULTS: The diagnosis of PCL was suspected on the basis of the family history. DNA analysis revealed a novel missense mutation, E1106K, in the tyrosine kinase domain of the vascular endothelial growth factor receptor 3 gene (VEGFR3/FLT4). CONCLUSION: PCL should be considered in the differential diagnosis of hydrops fetalis. Knowledge of the favorable course, variable clinical presentation, therapy options and genetic basis should contribute to better pregnancy counseling and management.

Congenital malalignment of the great toenails in a pair of monozygotic twins.

Congenital malalignment of the great toenails is the lateral deviation of the long axis of nail growth relative to the distal phalanx. The nails grow slowly, with thickening, curving, and transverse ridging. We describe a pair of 3-year-old monozygotic female twins with congenital malalignment of the great toenails complicated by ingrowing and paronychia. Although there are a few cases without any family history, congenital malalignment is believed to be inherited through an autosomal-dominant gene of variable expression. This report provides further evidence of the heritability of the disease.

Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation.

Hereditary lymphedema type I (Milroy disease) is a rare autosomal dominant disease resulting from mutations of FLT4 encoding the vascular endothelial growth factor receptor-3. Patients develop edema of the legs and feet, resulting in chronic swelling of the lower extremities from the neonatal period. Here we report a Japanese family with 10 affected members of five generations of hereditary lymphedema type I. We identified a previously reported missense mutation of G857R in one allele of FLT4 from three affected individuals of three generations, the mother of whom presented only hemi-lymphedema of the left foot. Thus, the clinical features of hereditary lymphedema type I caused by a FLT4 mutation are heterogeneous and it would be appropriate to consider FLT4 mutations even in a patient with hemi-lymphedema of the foot.