[Osteoma cutis presenting as an erythematous and grainy, retroauricular plaque]. / Ostéome cutané primaire à type de plaque rétro-auriculaire érythémateuse et grenue.

BACKGROUND: Authentic bone tissue can be observed in the skin, in both the epidermis and dermis, where it produces cutaneous osteomas. These lesions are classed as either primary or secondary ossifications. Secondary ossifications are the consequence of inflammatory lesions such as acne or injuries while primary ossifications are neither preceded by preexisting lesions nor associated with other lesions. PATIENTS AND METHODS: A 22-year-old man with no prior history consulted for a grainy, erythematous, telangiectatic retroauricular plaque on the right side. Palpation revealed hard grainy lesions giving a tactile sensation of small stones. Histological analysis showed an ossification in the dermis resulting from mature bone in contact with dilated vessels. A diagnosis of venous malformation with osseous metaplasia was initially proposed, but the patient insisted that no vascular anomaly had preceded the grainy lesions. Further histological analysis demonstrated that the vascular anomalies were restricted to the ossified regions and the final diagnosis was of primary cutaneous osteoma. DISCUSSION: In our patient, the absence of any endocrine anomalies and of any vascular malformation supported the diagnosis of primary cutaneous osteoma. Certain vascular anomalies such as haemangiomas or venous malformation can lead to bone formation. The coexistence in the dermis of osteomas and dilated vessels initially led us to suspect osteomas secondary to venous malformation. However, the absence of any vascular anomalies preceding the cutaneous osteoma contradicted this diagnosis. In venous malformations, phleboliths are usually seen as a result of calcium deposits on thrombus rather than authentic osteomas. Our patient had no standard primary solitary osteoma of either the nodular or the plaque type, and this case thus constitutes a new original form of primary cutaneous osteoma.

Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations.

BACKGROUND: Familial cerebral cavernous malformations (FCCM) are vascular malformations inherited as an autosomal-dominant condition. Three genes (KRIT1/CCM1, MGC4607/CCM2, PDCD10/CCM3) have been identified so far. Extra-neurological manifestations include retinal and cutaneous vascular malformations. The cutaneous vascular malformation, which had been more specifically associated with FCCM, is hyperkeratotic cutaneous capillary venous malformation (HCCVM). OBJECTIVES: To define the frequency of cutaneous vascular malformations in patients with FCCM, to precise their different phenotypes, and to study the association of each cutaneous vascular malformation subtype with the different three mutated CCM genes. METHODS: Dermatological inquiry was systematically performed in a large series of consecutive FCCM patients. Cutaneous biopsies were reviewed when available. Cutaneous vascular malformations classification was based on predominant anomalous channels, using the current International Society for the Study of Vascular Anomalies classification. Molecular screening of CCM genes was performed. Results Four hundred seventeen consecutive FCCM patients from 182 unrelated families were included. 38 patients (9%) from 25 different families had cutaneous vascular malformations. In these 38 patients, cutaneous vascular malformations were classified as follows: 13 capillary malformations (CM), 15 HCCVM, 8 venous malformations (VM) and 2 unclassified lesions. All patients (92%), but one with CM had a KRIT1/CCM1 mutation. The last patient had no detectable mutation. All of the 15 patients with HCCVM had a KRIT1/CCM1 mutation; 86.7% of cutaneous vascular malformation patients (33 of 38) had a KRIT1/CCM1 mutation. CONCLUSION: Cutaneous vascular malformations are seen in 9% of FCCM patients. Three distinct major cutaneous vascular malformations phenotypes were identified: HCCVM (39%), CM (34%) and VM (21%). CCM1 is the most frequently mutated gene in cutaneous vascular malformations-FCCM patients.

Prenatal imaging findings in rapidly involuting congenital hemangioma of the skull.

We report two cases of rapidly involuting congenital hemangioma (RICH) of the skull diagnosed in the third trimester of gestation, and also present a brief review of the literature. In both of our cases ultrasound examination showed a soft tissue vascular mass of the skull with a specific sonographic finding: a thin hyperechogenic line over the lesion and continuous with the calvaria, suggesting a subperiosteal origin and possibly accounting for a mass effect on the underlying skull. This was slight in one case and marked in the other (and associated with involvement of the calvaria). On prenatal T2-weighted magnetic resonance imaging, the signal of each of the lesions was less marked than the hypersignal encountered in the postnatal period. Postnatal clinical and radiological follow-up over the first few months after delivery confirmed the diagnosis of RICH in each case by demonstrating a significant decrease in the size of the tumor and regression of the vascular component, with complete involution of the lesion within a year.

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.

BACKGROUND: Glomuvenous malformation (GVM) ("familial glomangioma") is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like "glomus cells" in the walls of distended endothelium lined channels. Inheritable GVM has been linked to chromosome 1p21-22 and is caused by truncating mutations in glomulin. A double hit mutation was identified in one lesion. This finding suggests that GVM results from complete localised loss of function and explains the paradominant mode of inheritance. OBJECTIVE: To report on the identification of a mutation in glomulin in 23 additional families with GVM. RESULTS: Three mutations are new; the others have been described previously. Among the 17 different inherited mutations in glomulin known up to now in 43 families, the 157delAAGAA mutation is the most common and was present in 21 families (48.8%). Mutation 108C-->A was found in five families (11.8%), and the mutations 554delA+556delCCT and 1179delCAA were present together in two families (4.7% each). Polymorphic markers suggested a founder effect for all four mutations. CONCLUSIONS: Screening for these mutations should lead to a genetic diagnosis in about 70% of patients with inherited GVM. So far, a mutation in glomulin has been found in all GVM families tested, thus demonstrating locus homogeneity.

Successful management of a retroperitoneal kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon using alpha-interferon.

It has been shown recently that Kasabach-Merritt phenomenon, the association of a vascular tumour and consumption coagulopathy, does not--as previously thought--complicate "classical" infantile hemangiomas but distinctive entities called kaposiform hemangioendothelioma (KHE) and tufted angioma (TA), both tumours on the same neoplastic spectrum. These tumours have been found in the neck, face, thorax, abdomen, retroperitoneum and limbs and are associated with a mortality rate of as high as 30 %. Several therapeutic modalities, including alpha-interferon, vincristine, radiotherapy and surgery have been reported in the literature. We report a case of retroperitoneal kaposiform hemangioendothelioma regression using alpha-interferon and discuss the current knowledge of this entity and its treatment.

Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.

Venous malformations with glomus cells are localised cutaneous lesions of vascular dysmorphogenesis. They are usually sporadic, but sometimes familial. Using five families, we mapped the locus, VMGLOM, to chromosome 1p21-p22. In order to refine this locus, spanning 4-6 Mbp, we then studied seven additional families. They exhibited linkage to VMGLOM and the combined lod score for all 12 families was 18.41 at theta = 0.0 for marker D1S188. We found a distinct haplotype shared by seven families, comprising seven alleles which are rare in the general population (P < 0.01). This indicates that the haplotype is identical by descent in all seven families, and hence the locus can be refined by inferring ancestral crossovers. Using this approach, we position the causative gene between two markers on the same non-chimeric YAC of 1.48 Mbp, a feasible size for positional cloning. As there is no known gene involved in vasculogenesis and/or angiogenesis in this YAC, the identification of the causative gene is likely to reveal a novel regulator or vascular development.

Facial port-wine stains and Sturge-Weber syndrome.

A retrospective study was made of 106 cases of facial port-wine stains. It was concluded that only patients with lesions located in the ophthalmic (or V1 trigeminal) cutaneous area are at risk for associated neuro-ocular symptoms. It is proposed that Sturge-Weber syndrome results from a dysmorphogenesis of cephalic neuroectoderm.

Management of alarming hemangiomas in infancy: a review of 25 cases.

During the past 10 years, 25 infants with alarming hemangiomas--lesions that impaired important functions and were life threatening, especially when there was visceral involvement--have been treated. A vascular mark was present at birth in 68% of these infants. Visceral hemangiomas were associated with bulky cervicocephalic hemangiomas or with small hemangiomas scattered over the body. Among the 25 infants, 12 had laryngeal hemangiomas, 3 had hepatic hemangiomas, and 1 had gastrointestinal hemangiomatosis. Ocular sequelae, malocclusion, and cutaneous distortion were the most important functional problems. Corticosteroid treatment was used for 23 of 25 infants with alarming hemangiomas. There was a varied treatment response: total failure (30% of the patients); excellent, dramatic, rapid improvement (30% of the patients); and moderate, doubtful response, with the natural course of the disease remaining unaltered (40% of the infants). Arterial embolization, used in 6 infants, gave inconstant results. Cardiac failure, frequently associated with large cutaneous hemangiomas and always seen with hepatic multinodular hemangiomas, required digitalization. In some cases arterial embolization reduced the increased cardiac output. Liver hemangiomas had a high mortality; all 3 infants with hepatic involvement died.

'Membranous aplasia cutis' with hair collars. Congenital absence of skin or neuroectodermal defect?

BACKGROUND: The skin and the nervous system are both derived from ectoderm. Separation of neural ectoderm from epithelial ectoderm occurs concurrently with the closure of the neural tube. This chronologic association may explain the cutaneous abnormalities often found overlying neural tube defects. A ring of dark long hair encircling a congenital scalp lesion (the hair collar sign) is one such marker and is often associated with encephaloceles, meningoceles, and heterotopic brain tissue. OBSERVATIONS: We describe six children with aplasia cutis who displayed the hair collar sign. Aplasia cutis is a relatively heterogeneous disorder; however, these lesions had a unique and strikingly similar appearance. This subtype of aplasia cutis, which we have termed membranous aplasia cutis, shares several clinical and histologic features with cranial neural tube defects. CONCLUSIONS: We propose that membranous aplasia cutis is a form fruste of a neural tube defect and may be derived from a similar embryological defect. Recent advances in the understanding of cranial neural tube closure may provide support for this hypothesis.

Cerebral developmental venous anomalies associated with head and neck venous malformations.

PURPOSE: To study cerebral developmental venous anomalies in patients with extensive venous malformations of the head and neck. METHODS: All patients had undergone carotid angiography 10 to 15 years previously. Four-vessel cerebral angiography was carried out in 40 patients with venous malformations. All patients had a physical examination, 16 had CT, and 22 were examined with MR imaging. One patient had MR angiography. RESULTS: Eighteen developmental venous anomalies were noted in 8 (20%) of 40 patients. Four patients had multiple anomalies, and these were bilateral in 1 patient. Developmental venous anomalies seen in association with cervicofacial, cutaneous, and mucosal venous malformations were remarkable in their absence of neurologic events and associated cavernoma; significance of ectatic venous convergence, extension, and preponderance of deep drainage routes; and frequency with which they multiple in occurrence. CONCLUSION: Developmental venous anomalies have a remarkable prevalence of 20% in patients with extensive superficial venous malformations. Therefore, it is important to search for a cerebral developmental venous anomaly when confronted with a cervicofacial venous malformation.

Prophylactic antiepileptic treatment in Sturge-Weber disease.

PURPOSE: In Sturge-Weber disease, motor and cognitive defects are supposed to result mostly from severe epilepsy. They might, therefore be partly prevented by prophylactic antiepileptic drug treatment. This condition constitutes a possible model for the study of prophylactic drug treatment in severe epilepsy. In the present study, we compared the outcome of patients treated prospectively with phenobarbitone before the first seizure, with those referred following the first seizure, in order to identify the issues related to the evaluation of prophylactic treatment of severe epilepsy. METHODS: Motor and cognitive outcome were compared in patients treated prophylactically with phenobarbitone (16 cases) and in those treated following the first seizures (21 cases). RESULTS: Whereas the incidence of motor deficit was similar in both groups (44 vs. 52%), that of mental retardation was lower in the group treated prophylactically (76.2 vs. 43.7%, P< 0.05). The major methodological issues encountered included the small number of patients identified at birth that could be included in the study, the need for randomization taking into account the size of the angioma, and the choice of the prophylactic medication, including the occurrence of epilepsy together with the course of motor and cognitive functions among the endpoints. CONCLUSION: Prophylactic anti-epileptic drug treatment is worth considering for Sturge-Weber disease, but a randomized prospective study is necessary to determine this. It should be multicentric, take in account the size of the angioma, and decide what the most appropriate medication should be.

Noninvoluting congenital hemangioma: a rare cutaneous vascular anomaly.

The authors studied a rare, congenital, cutaneous vascular anomaly that grows proportionately with the child and does not regress. A total of 53 patients were compiled from three vascular anomaly centers. These patients' lesions were analyzed for presentation, physical findings, radiologic and histopathologic characteristics, natural history, and outcome after resection. The lesions occurred slightly more often in male patients, always appeared alone, and were located (in order of frequency) in the head/neck region, extremities, and trunk. They were round-to-ovoid in shape, were plaque-like or bossed, occurred in variable shades of pink to purple, and had an average diameter of 5 cm. The overlying skin was frequently punctuated by coarse telangiectasia, often with central or peripheral pallor. The lesions were warm on palpation; fast-flow was further documented by Doppler ultrasonography. Magnetic resonance imaging and angiographic findings were similar to those of common hemangioma of infancy. All lesions were easily excised without recurrence.Histologic examination revealed lobular collections of small, thin-walled vessels with a large, often stellate, central vessel. Interlobular areas contained predominantly dilated, often dysplastic veins; arteries were also increased in number. Small arteries were observed "shunting" directly into lobular vessels or into abnormal extralobular veins. "Hobnailed" endothelial cells lined the small intralobular vessels. Mast cells were increased. Tests for glucose transporter-1, a recently reported reliable marker for common hemangioma of infancy, were negative in all 26 specimens examined. In conclusion, the authors think these clinicopathologic and radiologic features define a rare vascular lesion for which the term "noninvoluting congenital hemangioma" is proposed. These lesions of intrauterine onset may be a variant of common hemangioma of infancy or another hemangiomatous entity with persistent fast-flow.

Percutaneous embolization with Ethibloc of lymphatic cystic malformations with a review of the experience in 70 patients.

Cystic lymphatic malformations (CLM) are superficial vascular hemodynamically inactive malformations of the lymphatic compartment. We propose a new approach which uses a sclerosing agent as an alternative to surgical resection. In the past nine years we treated 70 patients with CLM. Fifty-five percent were younger than five years of age with a male preponderance and most (80%) of the CLM were located in the maxillofacial region. They usually presented with functional impairment from the mass effect; others had infections, bleeding, or inflammation. The CLM were injected under fluoroscopic control with a sclerosing agent, Ethibloc, which dries up the pockets and reduces the mass. On follow-up the results were good in 62%, unchanged in 5%, and continued progression in 20%. Fifteen percent underwent surgery failures (24%) occurred in mixed forms of cystic and cellular lymphangiomas. Complications were minors. Percutaneous embolization is useful for CLM, with minimal risk, absence of scar, and it avoids surgery. It should be the first line of treatment for these lesions.

[Surgical treatment of superficial vascular malformations. Indications for tissue expansion]. / Traitement chirurgical des malformations vasculaires superficielles. Intérêt de l'expansion tissulaire.

The aim of this work was to demonstrate the feasibility of surgical exeresis of superficial vascular malformations using tissue expansion. A retrospective analysis of data from 15 patients who underwent surgery over a 9 year period for arteriovenous (n = 6) and venous malformations of the trunk and limbs was made. Indications for treatment were pain in six patients or complications of an arteriovenous malformation. Twenty-eight expanders were used in 15 patients. Most of the complications observed (25% of the cases) were minor. The program had to be interrupted due to complications in only one case (7%). Mean duration of tissue expansion was 105 days (30-165). Mean delay to cicatrization was 40 days and mean duration of the treatment program was 156 days. Indication for surgical exeresis of superficial vascular malformations can be widened due the contribution of tissue expansion. With acquired experience, the risk of complications has been reduced. The duration of the treatment protocol is the main drawback.

[Hemangiomas and superficial vascular malformations: classification]. / Hémangiomes et malformations vasculaires superficielles: classification.

Superficial vascular malformations of the face, trunk and limbs are better known today, and they can be divided up into simple and complex vascular malformations. Simple vascular malformations may form five major categories: immature hemangiomas of infants, port-wine stains, capillarovenous angiodysplasias, and arteriovenous fistulae and malformations. Complex angiodysplasias are systematized (Sturge-Weber and Bonnet-Dechaume-Blanc syndromes, Cobb's metameric angiomatosis, Klippel-Trenaunay and Parkes Weber's syndromes) or disseminated (Weber-Osler-Rendu disease and blue rubber-bleb nevus syndrome). Various modalities of treatment may be contemplated, according to the type of malformations, and an interdisciplinary consultation is essential to decide whether a watch-and-wait policy, a physical method (laser), embolization, fibrosing injections, vascular, maxillofacial or plastic surgery, or a successive combination of various techniques should be resorted to.

[Exploration strategy for superficial vascular malformations]. / Stratégie d'exploration des malformations vasculaires superficielles.

Transillumination of cystic lymphangiomas, MRI of venous vascular malformations, pulsed Doppler and arteriography of arteriovenous malformations, echo-Doppler and radiomeasurement of malformations in the lower limbs are key examinations in the exploration strategy for superficial vascular malformations.

[Venous vascular malformations and their treatment with Ethibloc]. / Les malformations vasculaires veineuses et leur traitement par Ethibloc.

The use of Ethibloc must be contemplated as a first-intention treatment for venous malformations of the face. This sclerosing agent has transformed the functional, esthetic and psychological prognosis for these vascular malformations.

[Cystic lymphatic malformations and their treatment]. / Les malformations lymphatiques kystiques et leur traitement.

Lymphangiomas are remarkably well amenable to treatment with direct aspiration then embolization with a sclerosing agent derived from maize: Ethibloc.

Facial infantile hemangiopericytoma resembling an arteriovenous malformation.

Malignant highly vascularized tumors such as hemangiopericytomas (HPC) may mimic a benign arteriovenous malformation (AVM) which is sometimes still referred to as "angioma". We describe the clinical and radiological findings of a facial hemangiopericytoma in comparison to an AVM in order to avoid misdiagnosis between these two pathologies since evolution and therapeutic management are completely different. Because hemangiopericytomas in children show malignant behavior requiring aggressive management, early and accurate diagnosis is of significant importance for the clinical outcome.