Biomedical subjects

Odile Enjolras

Publications and source records attributed to Odile Enjolras.

6 recordsLinked to original sources

PubMed2004

Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.

OBJECTIVES: To develop clinical criteria that permit clinical distinction between inherited glomuvenous malformation (GVM), known as glomangioma, and inherited cutaneomucosal venous malformation and to test these criteria on sporadic lesions. DESIGN: Clinical data were compiled for 1685 patients with inherited or sporadic cutaneous venous anomalies. Based on a cohort of patients with a mutation in the TIE2 or glomulin gene or a histologic diagnosis, we defined clinical criteria for inherited GVM and cutaneomucosal venous malformation. We then applied these criteria to sporadic cases in a blinded manner and genetically or histologically confirmed this clinical diagnosis whenever possible. RESULTS: Glomuvenous malformations accounted for 5.1% of venous anomalies and were frequently inherited (63.8%), whereas venous malformations were rarely familial (1.2%). Glomuvenous malformations were nodular and scattered, or plaque-like and segmental, with color varying from pink to purplish dark blue, whereas most venous malformations (VMs) were soft, blue, and often localized vascular lesions. Glomuvenous malformations were mainly located on the extremities and involved skin and subcutis, whereas VMs commonly affected muscles and joints (P<.001). Glomuvenous malformations had a distinct raised, often hyperkeratotic cobblestone-like appearance and could not be completely emptied by compression, unlike VMs. Glomuvenous malformations were painful by compression, whereas VMs were painful on awakening, after activity, or with hormonal changes. Elastic compressive garments aggravated pain in GVMs, in contrast to VMs. CONCLUSIONS: This large series of patients with superficial venous anomalies established clinical features that distinguish VMs and GVMs. This differential diagnosis is essential, as the outcome and the treatment for GVMs differ.

Adult↗

PubMed2004

Congenital hemangiomas and infantile hemangioma: missing links.

Rapid postnatal growth and slow involution in childhood characterize the common infantile hemangioma. There are other rare vascular tumors that present fully grown at birth and behave quite differently, as designated by the acronyms: rapidly involuting congenital hemangioma (RICH) and noninvoluting congenital hemangioma (NICH). RICH and NICH have similarities in appearance, location, size, equal sex ratio, and both have overlapping radiologic and histologic features with infantile hemangioma. However, neither type of congenital tumor immunostains for glucose transporter-1 protein, a marker of infantile hemangioma. This raises the question of whether these congenital vascular lesions are variations in a spectrum of hemangioma or are entirely different tumors. We describe two groups of patients that suggest a linkage between postnatal and congenital vascular tumors: Link I (n=5), children who had either RICH or NICH coexisting with infantile hemangioma, and Link II (n=10), children initially diagnosed as having RICH, but regression was incomplete and the residuum was that of NICH. We conclude that these infants exhibit "missing links" between the rare RICH and NICH, and the common infantile hemangioma.

Female↗

PubMed2003

[Angiomas].

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Arteriovenous Malformations↗

PubMed2002

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").

Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle--like glomus cells in the media surrounding distended vascular lumens. We have shown that heritable GVMs link to a 4--6-cM region in chromosome 1p21-22. We also identified linkage disequilibrium that allowed a narrowing of this VMGLOM locus to 1.48 Mb. Herein, we report the identification of the mutated gene, glomulin, localized on the basis of the YAC and PAC maps. An incomplete cDNA sequence for glomulin had previously been designated "FAP48," for "FKBP-associated protein of 48 kD." The complete cDNA for glomulin contains an open reading frame of 1,785 nt encoding a predicted protein of 68 kD. The gene consists of 19 exons in which we identified 14 different germline mutations in patients with GVM. In addition, we found a somatic "second hit" mutation in affected tissue of a patient with an inherited genomic deletion. Since all but one of the mutations result in premature stop codons, and since the localized nature of the lesions could be explained by Knudson's two-hit model, GVMs are likely caused by complete loss of function of glomulin. The abnormal phenotype of vascular smooth-muscle cells (VSMCs) in GVMs suggests that glomulin plays an important role in differentiation of these cells--and, thereby, in vascular morphogenesis--especially in cutaneous veins.

Adaptor Proteins, Signal Transducing↗

PubMedDate not supplied

Rapidly involuting congenital hemangioma: clinical and histopathologic features.

We define the histopathologic findings and review the clinical and radiologic characteristics of rapidly involuting congenital hemangioma (RICH). The features of RICH are compared to the equally uncommon noninvoluting congenital hemangioma (NICH) and common infantile hemangioma. RICH and NICH had many similarities, such as appearance, location, size, and sex distribution. The obvious differences in behavior served to differentiate RICH, NICH, and common infantile hemangioma. Magnetic resonance imaging (MRI) of the three tumors is quite similar, but some RICH also had areas of inhomogeneity and larger flow voids on MRI and arterial aneurysms on angiography. The histologic appearance of RICH differed from NICH and common infantile hemangioma, but some overlap was noted among the three lesions. RICH was composed of small-to-large lobules of capillaries with moderately plump endothelial cells and pericytes; the lobules were surrounded by abundant fibrous tissue. One-half of the specimens had a central involuting zone(s) characterized by lobular loss, fibrous tissue, and draining channels that were often large and abnormal. Ancillary features commonly found were hemosiderin, thrombosis, cyst formation, focal calcification, and extramedullary hematopoiesis. With one exception, endothelial cells in RICH (as in NICH) did not express glucose transporter-1 protein, as does common infantile hemangioma. One RICH exhibited 50% postnatal involution during the 1st year, stopped regressing, was resected at 18 months, and was histologically indistinguishable from NICH. In addition, several RICH, resected in early infancy, also had some histologic features suggestive of NICH. Furthermore, NICH removed early (2-4 years), showed some histologic findings of RICH or were indistinguishable from RICH. We conclude that RICH, NICH, and common infantile hemangioma have overlapping clinical and pathologic features. These observations support the hypothesis that these vascular tumors may be variations of a single entity ab initio. It is unknown whether the progenitor cell for these uncommon congenital vascular tumors is the same as for common infantile hemangioma.

Child↗

PubMedDate not supplied

Kasabach-merritt phenomenon: a retrospective study of treatment with vincristine.

PURPOSE: Kasabach-Merritt phenomenon (KMP) is characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, a consumptive coagulopathy, and an enlarging vascular lesion. The syndrome develops in infancy and is associated with a high morbidity and mortality rate. The purpose of this study was to assess the effectiveness of vincristine in the treatment of KMP. METHODS: We retrospectively reviewed the clinical and laboratory data of 15 patients with KMP treated with vincristine at 9 institutions across the United States, South America, and Europe. RESULTS: All 15 patients had profound thrombocytopenia and consumption of fibrinogen at presentation. Ten patients had biopsies of their lesions, and results included five (33.3%) kaposiform hemangioendotheliomas, three (20%) tufted angiomas, one lesion (6.7%) with features of both kaposiform hemangioendothelioma and tufted angioma, and one (6.7%) unclassified vascular tumor. All 15 patients had an increase in platelet count of at least 20,000 with an average response time of 4.0 weeks after initiation of vincristine therapy. Thirteen patients had an increase in fibrinogen level of 50 mg/dL with an average response time of 3.4 weeks. In 13 patients there was a significant decrease in the size of the vascular lesion. The average duration of treatment was 21.5 (+/-12.6) weeks. Four patients (26%) relapsed. All four were successfully treated with a second course of vincristine. Complications included one patient with abdominal pain, one patient with transient loss of deep tendon reflexes, and one patient with irritability. CONCLUSION: Vincristine presents a safe and sometimes effective treatment option in the management of KMP.

Antineoplastic Agents, Phytogenic↗