Compromise of the spinal canal in Proteus syndrome

Skovby, Flemming; Graham, John M.; Sonne‐Holm, Stig; Cohen, Michael

doi:10.1002/ajmg.1320470516

Cited by 46 publications

(22 citation statements)

References 5 publications

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“…9 Large complex vascular malformations are a common feature, and several reports have described PE as a complication of this syndrome. [10][11] PE has been described in case reports of 8 adult patients with KTS, ranging in age from 21 to 63 years (Table 1). [15][16][17][18][19][20][21][22] Although no case reports of PE among children with KTS exist in the English-language literature, there are 5 prior reports documenting children (age range: 4 weeks to 18 years) with Proteus syndrome [10][11][12] and/or undiagnosed complex vascular malformations 23 complicated by PE; 4 conditions were fatal (Table 1).…”

Section: E598mentioning

confidence: 96%

Pulmonary Thromboembolism Associated With Klippel-Trenaunay Syndrome

Huiras¹,

Barnes

Eichenfield

et al. 2005

Pediatrics

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ABSTRACT. Klippel-Trenaunay syndrome (KTS) is a rare congenital anomaly characterized by unilateral limb overgrowth, venous varicosities, and capillary malformations (port wine stains) of the affected limb or limbs. Large venous malformations such as those observed in KTS are rare, and many physicians are unfamiliar with the potential complications, which include hypercoagulability, thrombosis, and pulmonary embolism (PE). As a result, patients may suffer from delayed diagnosis of a potentially life-threatening thromboembolic event. We present 2 cases of children with KTS complicated by PE, and we review the English-language literature regarding pathophysiologic features, interventions, and outcomes of PE in the setting of KTS among both pediatric and adult patients, with emphasis on issues relevant to pediatricians. I n 1900, French physicians Klippel and Trenaunay described a patient with massive hemihypertrophy of the lower extremity associated with a large, confluent, red-blue plaque and venous varicosities. 1 The term Klippel-Trenaunay syndrome (KTS) has since been used to describe rare, congenital, vascular malformations identified by the classic clinical triad of venous varicosities, ipsilateral cutaneous capillary malformations, and bony/soft-tissue overgrowth of the affected limb or limbs. As our understanding of vascular lesions evolves, it is clear that the constellation of findings reported by Klippel and Trenaunay represents complex, mixed, vascular malformations, often with venous, capillary, and lymphatic components, with various clinical consequences, including hypercoagulability and the complications that ensue. We describe 2 children with KTS of the lower extremity who suffered from pulmonary embolism (PE). CASE REPORTS Patient 1A 14-year-old boy with a combined capillary-venous-lymphatic malformation of the right lower extremity who had been diagnosed as having KTS at birth presented to an outside institution after 2 episodes of syncope. During these episodes, he was unresponsive for several minutes and was observed to have circumoral cyanosis and tonic posturing. Two weeks earlier, the child had been treated for cellulitis, with fever, pain, and warmth of his affected extremity; blood cultures were positive for Staphylococcus aureus, and the patient was treated with a course of orally administered cephalexin. After the second episode of syncope, the patient was transferred to Children's Hospital of Wisconsin (Milwaukee, WI) for evaluation.In the physical examination, the child was pale and lethargic, with a heart rate of 119 beats per minute, a respiratory rate of 28 breaths per minute, and oxygen saturation ranging from 93% to 97% with room air. A cardiac examination revealed a new grade II/VI systolic murmur. The lungs were clear. The right lower extremity was enlarged, with 2ϩ edema at the ankle to mid-shin level, which was its usual size, according to the boy's family. There was an extensive red-purple patch extending from the right buttock to the lateral ankle (Fig 1). There were hundred...

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Section: E598mentioning

confidence: 96%

Pulmonary Thromboembolism Associated With Klippel-Trenaunay Syndrome

Huiras¹,

Barnes

Eichenfield

et al. 2005

Pediatrics

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“…Decreased and increased fat can be found in the same patient at different sites in the body, indicating dysregulation of adipose tissue (Fig. 7) [Clark et al, 1987;Hotamisligil and Ertogan, 1990;Cohen, 1993;Skovby et al, 1993;Happle, 1995]. Lipomas may be confined or infiltrative.…”

Section: Specific Criteriamentioning

confidence: 98%

Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

et al. 1999

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Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic manner. This intrinsic variability has led to diagnostic confusion associated with a dearth of longitudinal data on the natural history of Proteus syndrome. To clarify some of these issues, a workshop on Proteus syndrome was held in March 1998 at the National Institutes of Health, and participants developed recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients. This is a review of those recommendations.

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“…Nonetheless, an annual physical examination and Cases reported by Kontras, 1974;Cohen and Hayden, 1979;Kousseff, 1986;Hornstein et al, 1987;Viljoen et al, 1987;Cohen, 1988;Alysworth et al, 1988;Nishimura and Kozlowski, 1990;Malamitsi-Puchner et al, 1990;Maassen and Voigtlander, 1991;Bouzas et al, 1993;Bale et al, 1993;Pearson and Hoyme, 1993;Skovby et al, 1993;Gordon et al, 1995;Horie et al, 1995;Whitley and Flannery, 1996;Zachariou et al, 1996;Boccone et al, 1997 (Tables XIII and XIV). Females were affected more commonly than males (1.72:1), and the right-to-left sidedness ratio was 1.29:1.…”

Section: Klippel-trenaunay Syndromementioning

confidence: 99%

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Lapunzina

2005

American J of Med Genetics Pt C

252

215

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Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head circumference is 2-3 standard deviations (SD) above the mean for sex and age. A striking feature of OGS is the risk of neoplasms. Here, the relative frequency of specific tumors in each OGS, topographic location, and age of appearance is determined by reviewing published cases. In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, whereas in Sotos syndrome, lympho-hematologic tumors are most frequent. Based on literature review, a specific schedule protocol for tumor screening is suggested for each OGS. A schedule with different intervals and specific tests is proposed for a more rational cost/benefit program for these disorders.

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Compromise of the spinal canal in Proteus syndrome

Cited by 46 publications

References 5 publications

Pulmonary Thromboembolism Associated With Klippel-Trenaunay Syndrome

Pulmonary Thromboembolism Associated With Klippel-Trenaunay Syndrome

Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

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