[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.

Use of ultrasonic dissection in the early surgical management of periorbital haemangiomas.

PURPOSE: To evaluate the efficacy and safety of the early surgical excision of periorbital haemangiomas with an ultrasonic scalpel in infants at risk of visual impairment. STUDY: A retrospective analysis of 67 infants diagnosed to be at risk of amblyopia from periorbital haemangiomas, treated consecutively with the Dissectron between 1994 and 2005. Ophthalmic outcome parameters included the pre- and postoperative measurement of visual axis occlusion, strabismus, astigmatism, and degree of amblyopia. RESULTS: Visual performance showed an overall improvement of 30% following treatment. Seventy-six patients were found to have abnormal ophthalmic examinations preoperatively, compared to 46 following surgery. After surgery, visual axis occlusion decreased from 73 to 6%; amblyopia decreased from 67 to 22%, strabismus decreased from 26 to 18% and astigmatism (>onedioptre) decreased from 66 to 31%. Mean astigmatism values decreased from 3.5 to 1.9 dioptres. No new cases of astigmatism, strabismus or amblyopia were diagnosed postoperatively. Three minor complications resolved with conservative treatment. All patients were satisfied with the outcome of their surgery. CONCLUSION: Early surgical excision of periorbital haemangiomas using the Dissectron in infants with an established risk of visual impairment is a safe and effective alternative to pharmacological therapy. The use of the Dissectron is associated with reduced operative times and a shorter hospital stay.

Endothelial cells in infantile haemangiomas originate from the child and not from the mother (a fluorescence in situ hybridization-based study).

BACKGROUND: Infantile haemangiomas are benign vascular tumours of infancy of unknown origin. Their aetiological relationship to maternal cells has been questioned given that they develop during the neonatal period. OBJECTIVES: As endothelial cells in the placenta may be of maternal or fetal origin, we questioned whether vascular haemangioma cells originated from fetal or maternal tissue. METHODS: We aimed to detect, by using fluorescence in situ hybridization, maternal XX cells in the male XY tissue in four specimens of infantile haemangiomas obtained from boys. A sample of a female infantile haemangioma was used as a positive control and a male specimen of melanocytic naevus as a negative control. RESULTS: In one case of infantile haemangioma, a single XX female - probably maternal - cell was detected in the infantile haemangioma. All the other cells from this male as well as the three other informative specimens were uniformly negative for XX cell detection. CONCLUSION: Our results support the hypothesis that endothelial cells of infantile haemangiomas appear to derive from the child itself, in accordance with other studies.

[Antenatal diagnosis of rapidly involuting congenital hemangiomas (RICH)]. / Diagnostic anténatal des RICH (rapidlyinvoluting congenital hemangiomas).

INTRODUCTION: Since 1996, vascular anomalies are classified either as tumors or malformations. Infantile hemangioma is the most common vascular tumor. It is an endothelial cellular proliferation, stimulated after birth (10th day) which then slow involves. Congenital hemangioma is a different kind of hemangioma develops prenatally appearing fully grown at birth. Rapidly involuting congenital hemangioma (RICH) generally involutes spontaneously while non involuting congenital hemangioma (NICH) usually requires a surgical procedure. The clinical and radiological aspects of these two tumors differ significantly at birth. Most congenital hemangiomas detected at antenatal ultrasonography, due to their cephalic localization and their size (up to 10 cm) are RICH. MATERIAL AND METHODS: We report on five vascular tumors detected in utero during the second and third trimesters, and after birth. RESULTS: There were three boys and two girls. The average size of the RICH was 5 cm (1.8-10 cm). Four were cephalic and one on a lower limb. A doppler examination was available in three patients, and showed fast-flow in two. Prenatal magnetic resonance imaging was available in three patients. DISCUSSION: The diagnosis of RICH can be suspected on the antenatal ultrasonography. Fast-flow on the doppler examination confirms the diagnosis. It is advisable to repeat the ultrasonography every two to four weeks to reevaluate the possibility of delivery and the fetal cardiac status. In the event of a prenatal vascular tumor the differential diagnosis also includes other congenital tumors. Magnetic resonance imaging would be indicated if there is any doubt about malignancy. Regular follow-up is necessary during the first months to confirm the diagnosis. RICH regress rapidly while the size of malignant tumors increases. A biopsy is necessary to obtain histopatholgical proof.

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.

[Congenital haemangiomas and other rare infantile vascular tumours]. / Hémangiomes congénitaux et autre tumeurs vasculaires infantiles rares.

A number of infantile tumours, far less frequent than infantile haemangiomas, were long assimilated to them. Today they are clearly individualised, based on distinctive clinical and pathologic features, and this difference has been supported by the discovery of new immunophenotypic markers such as GLUT1. GLUT1 stains 100% of infantile haemangiomas and none of the other infantile vascular tumours. Congenital haemangiomas represent a group of vascular tumours still under evaluation as they have slightly heterogeneous presentation. Their prognosis is better appraised and their therapeutic management has improved. They are all fully grown in utero and they do not experience postnatal proliferation like haemangiomas do. Some of them (RICH--Rapidly Involuting Congenital Haemangioma) undergo spontaneous involution during the first year. Others (NICH--Non Involuting Congenital Haemangioma) persist lifelong. Tufted angioma and kaposiform haemangioendothelioma are histopathologically well characterized; in addition they are now considered as part of a same spectrum of vascular tumours, with the contribution of lymphatic endothelial cells in their proliferation. Both are clearly the tumours able to create platelet trapping, thrombocytopenia and the life-threatening Kasabach-Merritt syndrome. However they may occur as isolated tumours, without thrombocytopenia but with cosmetic, and sometimes function-impairing, consequences.

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.

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.

[Vincristine treatment for function- and life-threatening infantile hemangioma]. / Traitement par vincristine des hémangiomes graves du nourrisson.

AIM: To evaluate the efficacy of vincristine treatment for function- and life-threatening hemangiomas. PATIENTS AND METHOD: Nine infants, eight girls and one boy, received vincristine treatment (VCR) for endangering hemangiomas. In six cases, the hemangiomas involved head and neck in a segmental unilateral or bilateral distribution (3/6 also had laryngeal and 2/6 tracheal location causing respiratory distress, 5/6 had eyelid and orbital involvement); one infant had disseminated neonatal hemangiomatosis (skin, liver, kidney); two infants had liver hemangiomas with cardiac failure. VCR was prescribed after failure of high-dosage corticosteroid treatment in six, and of both corticosteroids and interferon alpha 2b (5 months) in one; two infants received VCR as first line treatment. RESULTS: A dosage of 1 mg/m(2) IV injection was delivered, with weekly injections first, and then tapering, increasing the interval between injections, depending on the clinical response. The nine infants received from 5 to 25 injections (average: 16), for a length of treatment of 1.5-8 months (average: 5.5 months). In seven patients a clear clinical response was observed at the end of the first month of treatment, while a slow protracted response was noted in two. Transient mild side effects were present in four patients. DISCUSSION: Corticosteroid treatment, although a worldwide recognized treatment of problematic hemangiomas, cannot always control the growth of alarming hemangiomas. Interferon alpha 2a and 2b have proven a 90% effectiveness: treatment for cortico-resistant, function- and life-threatening, hemangiomas.

[Eyelid hemangiomas in infants: contribution of MRI]. / Les hémangiomes palpébraux du nourisson: apport de l'IRM.

OBJECTIVES: To describe the MR imaging features and patterns of local extension of hemangiomas of the eyelid in correlation with the clinical presentation. PATIENTS AND METHODS: Retrospective study including 21 MRI (GE, 1.5T, T1 +/- Gadolinium, T2 +/- fat saturation, 3 planes) examinations performed for eyelid hemangiomas with occlusion>50% and/or ocular deviation. All examinations were reviewed by two observers using a standardized list of criteria. RESULTS: All hemangiomas had a heterogeneous signal described as "salt and pepper" on T2W sequences. The extension was extra-orbital in 8 cases, intra-orbital in 13 cases, extra-conal in 9 cases, intra-conal in 4 cases. The "fat sat T2" sequence provided the best anatomical details. There was a strong correlation between ocular deviation at clinical examination and intra-orbital extension, but no correlation between the extent of eyelid involvement and orbital location of the hemangioma. Dysplastic cerebellum anomalies related to the PHACES syndrome were present in 3 patients. CONCLUSION: MRI of the brain and orbits provides information that appears essential for optimal management of infants with hemangioma of the eyelid.

[Angiomatous lips]. / Les lèvres angiomateuses.

After defining vascular malformations and tumors, the authors approach specific problems of these lesions involving the lips. Careful planning and assessment are necessary throughout the clinical course and evolution. Therapeutic management concern the vascular anomaly but the functional, cosmetic and psychological repercussions as well. The rules of surgical treatment are discussed in this labial location. Capillary malformations can be treated by pulsed dye laser for the skin involvement, but sometimes by reconstructive surgery in case of soft tissue and bony overgrowth. Venous malformations require percutaneous sclerotherapy, partial or total removal surgery, reconstructive surgery, with or without previous embolization, according to the size and functional repercussions. Lymphatic malformations involving the lip are based upon conservative and observing treatment or surgery according to impairment and psychological impact. There is a strong tendency for these lymphatic microcystic malformations to invade and to recur after surgery. The new lasers (diode, Nd Yag) have to be assessed in this area. Arterio-venous malformations are the most severe anomaly. When the lesion is cosmetically and functionally acceptable, the authors propose conservative management waiting for therapeutic progress expected from genetics research. Otherwise management require embolization and complete surgical treatment with lip reconstruction. The first-line treatment of hemangiomas is medical and pharmacological (local medical care, corticosteroids, interferon, vincristine) but surgery may be indicated in three situations. In urgent cases with severe complications surgery is performed after failure of medical management. Early surgery is recommended to prevent functional or cosmetic disturbance or serious psychological distress. Ultrasound dissection (Dissectron) an significantly contribute to the surgical outcome. Late surgery retains its classical cosmetic and functional indications and techniques to treat the residual after-effects. Three key-words dominate the rules of therapeutic management of all types of vascular anomalies: multidisciplinary approach, experience and carefulness.

Coagulation abnormalities associated with extensive venous malformations of the limbs: differentiation from Kasabach-Merritt syndrome.

Confusion in the nomenclature of vascular malformations has been a major obstacle to the understanding of these conditions, so that misdiagnosis and treatment inconsistencies are common. Coagulation abnormalities occurring in combination with venous malformations (VM) have been misdiagnosed as Kasabach-Merritt syndrome (KMS), despite marked differences in clinical features, pathology and treatment. A homogenous group of 24 patients with diffuse limb VM was entered into a retrospective chart review study. The VM affected an upper limb in 12 patients, a lower limb in 10 and both in two. Localized intravascular coagulation (LIC) was characterized by a decrease in fibrinogen (0.5-1 g/l), an increase in d-dimers (2-64 micro g/ml) and presence of soluble complex of fibrin (+ to +++). Platelet counts were normal or slightly decreased. Higher VM severity scores were associated with more severe LIC. A number of events such as sclerotherapy, surgery, bone fracture, prolonged immobilization and pregnancy or menstruation triggered conversion of the LIC to disseminated intravascular coagulation (DIC), with bleeding related to factor consumption and multiorgan failure related to disseminated microvascular thrombosis. Clinical symptoms associated with worsening of LIC were pain, thrombosis and bleeding at wound sites or during surgery. None of the patients had the large ecchymotic and inflammatory tumours seen in KMS. Graded permanent elastic compression with heparin therapy was the only effective treatment. In conclusion, VM-associated LIC is a distinctive lifelong coagulopathy that must be differentiated from KMS, which is characterized by platelet trapping within a vascular tumour of infancy. The treatment of the two conditions is very different.

[Cranial fasciitis of childhood]. / Fasciite du cuir chevelu (cranial fasciitis) de l'enfant.

INTRODUCTION: A nodule of the scalp in a child of less than eleven years should evoke a cranial fasciitis among other serious diagnoses. OBSERVATION: A four-month old infant had a firm and pink nodule at the left parietal level, exhibiting a slow growth since two months. It was excised. The pathologic sample showed spindle-shaped cells within a myxoïde matrix, with a strong reactivity for smooth muscle actin (immunohistochemical analysis). Diagnosis of cranial fasciitis was made. Due to the results of pathology, it was possible to rule out the diagnosis of sarcoma, therefore, no complementary work-up was performed. Evolution was favorable. DISCUSSION: Cranial fasciitis is a diagnosis to be considered when confronted with a firm nodule of the scalp in a infant or a young child, with or without bone involvement. This is a benign lesion but worrying pathological signs may exist, making diagnosis of benignity difficult. Exeresis of the lesion, even incomplete, protects the child from possible recurrence. Evolution is always good.

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.