[Nevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal nevus): three cases]. / Acanthosis nigricans nævoïde ou "RAVEN" (rounded and velvety epidermal nevus): trois cas.

BACKGROUND: We report three cases of a peculiar rash with mixed clinical features of both epidermal nevus and acanthosis nigricans. Their characteristics have been compared to those of very rare but similar cases found in the medical literature. PATIENTS AND METHODS: Two young adults (one male, one female) and a 7-year-old boy consulted for hyperchromic asymptomatic plaques located respectively on the right scapula, the left upper arm and the right frontotemporal area of the face. None had any noticeable familial medical history. None were overweight or had a personal history of diabetes or endocrine dysfunction. The plaques had appeared soon after puberty in the adults and at the age of 4 years in the child and they had remained stable for years. They were polycyclic in shape, sharply demarcated, and with a linear distribution. Their surface was slightly papular, with a velvety appearance and texture. No other skin or mucous membrane lesions were observed elsewhere. The physical examination was otherwise normal. Skin biopsy specimens showed mild acanthosis with papillomatosis, hyperorthokeratosis with elongated rete ridges and slight thinning of the roof of the dermal papilla. DISCUSSION: The striking clinical features of this rash rule out confusion with any other epidermal nevus (because of age of onset, shape and texture) or with acanthosis nigricans (because of its topography and the lack of associated neoplastic or endocrine disease). A dozen similar case reports can be found in the medical literature, mostly under the term "nevoid acanthosis nigricans". Such a rash may be linked to postzygotic mosaicism with the same mutations of the FGFR3 gene. However, since the physiopathology of this rash remains hypothetical, we propose to name it "RAVEN", for "rounded and velvety epidermal nevus", which is simply a descriptive acronym and nothing more.

[PELVIS/SACRAL syndrome with livedoid haemangioma and amniotic band]. / PELVIS/SACRAL syndrome avec hémangiome livédoïde et bride amniotique.

BACKGROUND: PELVIS or SACRAL syndrome denotes the association of local haemangioma and malformation in the pelvic region. In this paper, we report a case noteworthy on account of the initially livedoid appearance of the haemangioma as well as associated amniotic banding of an upper limb. PATIENTS AND METHODS: A newborn male infant underwent left colostomy on the day of birth due to anal imperforation and anomalies of the external genital organs with sexual ambiguity. Examination of the skin and appendages revealed poorly delineated hypopigmentation in the sacrolumbar region and a fibrous groove around the right arm characteristic of amniotic band syndrome. Sacrolumbar and pelvic MRI scans revealed deviation towards the left of the last three sacral vertebrae with no medullary anomalies. Retrograde cystography showed a recto-uretral fistula. Progression of the infant's condition was marked by the appearance during the first month of a flat, violaceous, angiomatous, livedoid lesion in the middle of the buttocks and the perineum and a linear lesion on the rear aspect of the right lower limb. The skin biopsy of this lesion revealed a single capillary lobule at the dermal-hypodermal junction of non-specific appearance but with marked Glut1 expression by endothelial cells highly evocative of infantile haemangioma. DISCUSSION: Segmented haemangiomas are commonly associated with extracutaneous abnormalities. By analogy with PHACE syndrome, defined as association of segmented facial haemangioma with cerebral, ocular and cardio-aortic abnormalities, PELVIS/SACRAL syndrome denotes the association of segmented haemangioma of the loins (sacrolumbar region, buttocks or perineum=napkin haemangioma) with spinal dysraphia affecting the sacrolumbar spine, the terminal medullary cone, the genitourinary organs and the anal region to different degrees. Diagnosis of haemangioma associated with PELVIS/SACRAL syndrome may be delayed or complicated due to the macular, telangiectasic or livedoid appearance commonly seen. To our knowledge, there have been no reports to date of an association of amniotic banding with haemangioma or perineal dysraphia.

[Arteriovenous malformations: a study of 200 cases]. / Malformations artérioveineuses: étude de 200 cas.

OBJECTIVE: The aim of this study was to analyze the natural history of arteriovenous malformations by reviewing 200 consecutive cases observed in all localizations between 1992 and 1996 in a multidisciplinary angioma clinic. PATIENTS AND METHODS: Files concerning 200 arteriovenous malformations were reviewed with a standardized observation sheet applying the severity criteria defined by the International Society for the Study of Vascular Anomalies. We used the Schobinger staging system which includes 4 grades of severity: grade I=dormancy, grade II=expansion, grade III=destruction, grade IV=cardiac decompensation. RESULTS: There was no predominance by gender. Cephalic localizations were the most common. The malformation was present at birth as indicated by history taking in 40 p. 100 of the cases. Progression during childhood (grade II) was observed in 84 p. 100. At the first consultation, the patients generally were more often in grade II than in grade I or III. Bone destruction was observed in 3 cases, signs of cardiac decompensation in 5. Arteriovenous malformations were part of a more complex syndrome in 9 cases. We noted a flare-up in the prepuberty or puberty period in 75 p. 100 of the cases and the possible role of puberty (64 cases), trauma (39 cases) and pregnancy (25 p. 100 of the adult women). Explorations were generally completed (Doppler, arteriography) by grade II, expressing the need for a map of expanding lesions. Finally it was difficult to assess posteriorly the beneficial or deleterious effect of the often multiple treatments prescribed for these patients. DISCUSSION: The review of these 200 cases pointed out the "pediatric" nature of the problem of arteriovenous malformations in the large majority of the cases and the often misleading presentation of these vascular anomalies, particularly grade I malformations. A false aspect of capillary malformation could raise the risk of inappropriate treatment. This review also confirmed known factors of exacerbation (puberty, pregnancy, trauma) and demonstrated the severity of these vascular anomalies which can progress with loco-regional expansion and invasion without a cellular proliferation component. The analysis of treatments used showed that embolization alone cannot definitively and totally control a superficial arteriovenous malformation and that no one treatment, even combined embolization and large excision, can be a guarantee to provide total cure.

IgA-epidermolysis bullosa acquisita in a child resulting in blindness.

Epidermolysis bullosa acquisita (EBA) is an acquired subepidermal bullous disease characterized by IgG autoantibodies directed against type VII collagen, the major component of anchoring fibrils. The classical phenotype of EBA is a non-inflammatory, mechanobullous disease resembling the dystrophic forms of inherited epidermolysis bullosa. Mucous membrane involvement is frequent but usually mild. We report a 1-year-old girl suffering from IgA-EBA, who presented with an initial eruption of disseminated urticarial lesions and tense blisters of the skin but subsequently developed severe oral and ocular lesions reminiscent of cicatricial pemphigoid. Direct immunofluorescence of the skin and buccal mucosa revealed linear IgA and C3 at the basement membrane zone (BMZ). IgA anti-BMZ autoantibodies stained the dermal side of salt-split skin by indirect immunofluorescence and recognized a dermal protein of 290 kDa co-migrating with type VII collagen by immunoblotting. Direct and indirect immunoelectron microscopy revealed IgA deposits overlying the anchoring fibrils. The ocular involvement led to total blindness in spite of intense treatment. This case of childhood IgA-EBA is particularly striking because of the cicatricial pemphigoid phenotype with severe ocular involvement which resulted in blindness. It reinforces the necessity to use modern immunological methods to classify autoimmune bullous diseases in order to allow early and appropriate treatment.

[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.

The current management of cervico-cephalic venous malformations.

Venous malformations are often detected at birth and progressively increase in size if not treated. They can have severe aesthetic and functional consequences. Our purpose is to evaluate therapeutic results with Ethibloc. From 1982 to 1994, we have been using Ethibloc injections under fluoroscopic control in a group of 421 patients with malformations in cervicofacial veins. The diagnosis was made on the basis of clinical examinations as well as by using CT and MRI. In addition, 40 patients had a diagnostic angiogram. The therapeutic procedure consisted of direct puncture and opacification of venous the basis of lakes before injection of Ethibloc. Two hundred patients have been analyzed. In 139 patients treated with Ethibloc alone, the venous malformations were reduced significantly in size in 64%, while we obtained good results in 67% of the 61 patients treated with a combined procedure (Ethibloc followed by surgical excision). In those, Ethibloc effectively prevented extensive blood loss during surgery and delineated the malformations. Minor complications occurred such as fever or aseptic superficial abscesses. Ethibloc is safe, has no neurotoxicity, is efficient can be repeated many times and facilitates surgery. It must be used as the therapy of choice in venous malformations.

[Cutaneous cicatrizing agents]. / Les cicatrisants cutanés.

Cutaneous healing is an important field of dermatology for it concerns superficial wound, as well as little surgery action, leg ulcer, eschar or burn. In spite of the claiming of their healing properties and their profusion, only a few have been tested and have proved their efficiency. Use precautions must be complied with paying the highest attention among others to the condition of the wound before product applying, the sensitization risk and the systemic risk particularly for young child. After topics, colloids appeared about ten years ago. New technics in development are reflecting, the research perseverance in dermatology.

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.

[Immature hemangiomas in children]. / Les hémangiomes immatures de l'enfant.

Immature haemangiomas affect only infants and children and follow a peculiar course: first an expansion phase, then an involution phase which ends in complete cure in the majority of cases. Because of this favorable outcome, all inopportune treatments must be avoided, and abstention is the best attitude. However, early corticosteroid therapy must be prescribed when the lesion is located in a dangerous area, such as the eyelids or the lips. Specific treatments must be instituted only in very special cases, such as visceral or giant cutaneous haemangiomas or Kasabach-Merritt syndrome.

[Port wine hemangioma]. / Angiome plan.

Port wine stains are mainly due to an increase in the number or size of dermal capillary vessels. They are a natural disgrace which, in their most common form (i.e. isolated and non-systematized), requires a cosmetic treatment. It is for this purpose that various therapies were formerly prescribed with inconstant results. Since the development of lasers, notably the argon laser and, most recently, the pulsed dye laser, these treatments have become obsolete. Before they fall into oblivion, it must be remembered that until the seventies radiotherapy was part of the old methods and that all cases of port wine stain now seen in adults must be followed up with particular attention if they have received radiotherapy in their childhood.

[Temporo-masseter vascular malformations]. / Malformations vasculaires temporo-massétérines.

Temporo-masseterine vascular malformations are mature capillarovenous malformations. Being congenital lesions, they are present at birth and progress throughout life, particularly before adolescence. The clinical diagnosis rests on the finding that the malformation swells when the patient is in supine position. Its extent is determined by MRI. Treatment is radiosurgical and always begins with one or several embolizations using Ethibloc. Surgical resection, which is exceptionally complete, may be performed to make the face symmetrical.

MR imaging of breast hemangioma in female infants.

Breast hemangioma in female infants is a rare benign lesion, prone to spontaneous regression. But when the lesion regresses there is a risk of breast atrophy if the breast bud is included in or very close to the hemangioma. A trial of corticosteroid therapy could be proposed to prevent this risk, but one must be sure that the breast bud is included in or very close to the hemangioma before treatment. We studied 4 children with breast hemangioma to evaluate the ability of MR Imaging in the diagnosis of breast bud inclusion. 0.5 Tesla axial Spin Echo T2-weighted images (TR = 2000 ms; TE = 120 ms) clearly depicted interface between high signal appearance of hemangioma and hypo-intensity of the breast bud: in our four patients we were able to determine whether or not the hemangioma involved the breast bud. Our preliminary study seems to demonstrate that MR imaging is a valuable imaging technique to determine which patients could be eligible for a trial of corticosteroid therapy.

[Management of hemangioma in the infant]. / Conduite a tenir devant un hémangiome du nourrisson.

Foster child hemangioma management depends on its usual spontaneously regressive evolution as it is a transient and benign vascular tumor like lesion. Most of the time clinical follow up is the only management. Investigations are indicated if treatment is needed (for decision and follow up) concerning only hemangiomas with a bad functional or esthetic prognosis (peri-orificial lesions and large locations of the face) or complicated hemangiomas with life-risk as sub glottic hemangioma, Kasabach and Merritt Syndrome, diffuse and liver hemangiomatosis possibly associated to cardiac failure. Basic treatment remains systemic corticosteroids with indications for early surgery or intralesional corticosteroids.

[Indications for laser in the treatment of capillary hemangioma]. / Indications du laser dans le traitement des angiome plans.

Port-wine stains (PWS) are the only angiomas concerned with laser treatment. Before availability of tunable dye laser, Argon laser has to be consider as more efficient and safer than CO2 or yag lasers in that indication. As it is painful and not devoid of scarring effect in children it must be used after puberty. Nevertheless sport tests are necessary and have to be red after at least 2 to 6 months, as effect can be delayed to 1 year. Depending on PWS size and shape point by point technique or robotized scanning laser hand piece can be used. Criteria for good results are the followings: intensity of PWS colour, head and upper trunk location, lack of previous treatment, and irregular shape especially non homogeneous PWS with normal coloured skin areas.

[Pseudo-Kaposi syndromes of vascular origin]. / Les pseudo-syndromes de Kaposi "d'origine vasculaire".

Pseudo-Kaposi's Sarcoma with vascular disease concern mainly acroangiodermatitis described by Mali--(with chronic venous insufficiency)--, arteriovenous malformations with angiodermatitis described by Stewart and Bluefarb, and pseudo-Kaposi's Sarcoma occurring after placement of arteriovenous shunt for hemodialysis. Search for relation ships between classical Kaposi's Sarcoma and new AIDS Kaposi's Sarcoma explains new interest devoted to Pseudo-Kaposi's Sarcoma.

Long-term effects in skin and thyroid after radiotherapy for skin angiomas: a French retrospective cohort study.

To evaluate the long-term effects of skin angioma irradiation, a recall programme was established which included the systematic recalculation of the radiation dose to the skin and the thyroid. 22% of the 6229 patients contacted had a dermatological examination which revealed cutaneous dystrophy in 81% of the 1137 exposed angiomas and in 39% of the 208 unexposed angiomas. The risk of dystrophy (telangiectasia, hypopigmentation, superficial and subcutaneous atrophy) was 12.1 higher (P less than 0.0001) among patients who had received a surface skin dose above 30 Gy than among those who had received a dose of 10 Gy or less. The relative risk for each dystrophy component increased significantly (P less than 0.001) with surface skin dose. Furthermore, 14 basal cell carcinomas (BCC) were observed in 12 patients from the exposed group for all quantities of radiation, with a mean latency period of 22 years. No BCC was observed for a surface skin dose below 10 Gy. Thyroid testing was done on a subgroup of 431 patients whose thyroid gland had been particularly exposed during angioma irradiation. After recalculation, the dose delivered to the gland was below 1 Gy in 98% of patients. Only 13 thyroid nodules were discovered (1 hot and 12 cold). 1 patient with a cold nodule had a malignant thyroid tumour 21 years after irradiation. He belonged to the group of 7 patients who had received a thyroid dose above 1 Gy. Although no morphological abnormality was found in 98% of the tested patients, most (92%) had a thyroid iodine content below 15 mg (the standard French value), while a raised serum thyroglobulin level (greater than 30 ng/ml) was observed in 17%. This might confer a higher risk of subsequently developing thyroid nodules.