Early symptoms and long-term clinical outcomes of distal limb's cutaneous arterio-venous malformations: a retrospective multicentre study of 19 adult patients.

INTRODUCTION: Cutaneous arterio-venous malformations (AVM) are high-flow vascular malformations made up of a direct link between arteries and veins without intermediary capillary space. 'Distal limb's AVM', which mean involving hands or feet, are rare and their functional prognosis is often poor. Little is known about their early clinical symptoms. The objectives of this study were to identify early clinical symptoms of distal limb's cutaneous AVMs and to determine their long-term clinical outcome. METHODS: A retrospective study was carried out including adult patients who had distal limb's AVM, who were followed up between January 2000 and November 2013 in two regional tertiary care centres. The information was collected from patients' clinical records and completed by a structured telephone questionnaire. RESULTS: Nineteen patients were included in the study: four (21%) with foot AVM and 15 (79%) with hand AVM. The first clinical symptoms were as follows: swelling (47%), pain (47%), one or several venous dilatations (37%) and rarely abnormal skin colour, hyperthermia and pulsating sensation. The median diagnosis delay was 9 years after the onset of first manifestations. Amongst the 17 patients who underwent a treatment, 53% had embolotherapy session(s), 12% surgery and 35% had both. After an average follow-up of 57.6 months, 31% of the 13 patients contacted who were receiving treatment were in complete remission; 31% had partial remission; 15% had relapse after initial improvement and 23% had treatment failure. Overall, 74% of patients had a serious development of the AVM: 37% had digital or hand amputation, and 42% remained symptomatic and/or unstable. CONCLUSION: This study suggests that initial manifestations of distal limb's AVMs are discreet and non-specific, leading to a diagnosis delay of about 10 years, with poor prognosis. Doctors should evoke the diagnosis earlier, when these symptoms are shown: pain and/or swelling, sometimes with a large vein.

[CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome]. / Syndrome CLOVES: un syndrome malformatif proche du syndrome de Protée.

BACKGROUND: CLOVES syndrome (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal nevi, Skeletal anomalies) is a sporadic malformational syndrome that has recently been described (mutation of PIK3CA), with asymmetric body hypertrophy, lipomatous hamartoma of the trunk and numerous malformations. PATIENTS AND METHODS: We report a case of CLOVES syndrome initially diagnosed as Proteus syndrome, revealed by infection of a dorsal lipomatous hamartoma. The patient presented with both right lower limb hypertrophy and capillary and venous-lymphatic malformations, associated with dorsal capillary malformations, left cervico-facial hypertrophy, and cervical epidermal hamartoma, all of which are consistent with Proteus syndrome. Imaging of the dorsal lipomatous hamartoma associated with capillary as well as underlying venous-lymphatic malformations and syringomyelia resulted in subsequent correction of the earlier diagnosis of Proteus syndrome to that of CLOVES syndrome. DISCUSSION: Several malformational syndromes are associated with tissue hypertrophy, hamartoma and vascular malformations. Diagnosis of CLOVES syndrome may be delayed due to its fairly close phenotypic similarity to Proteus syndrome. Nevertheless, the prognosis and complications differ. Our case underlines the importance of considering a diagnosis of CLOVES syndrome in the presence of lipomatous hamartoma with hemi-hypertrophy and epidermal hamartoma, in order to enable adequate follow-up with specific monitoring for the possible complications associated with this disease.

Relapsing lymphomatoid papulosis after allogenic bone-marrow transplant.

Lymphomatoid papulosis (LyP) is a rare cutaneous lymphoproliferative disorder in children, which can rarely be associated with a cutaneous or systemic lymphoma. We report a 13-year-old girl who presented with typical LyP and pathological features of subtype A. Six months later, the patient presented with rapidly progressive peripheral and systemic lymphadenopathy. On examination of a lymph-node biopsy, a lymphoid infiltrate negative for anaplastic lymphoma kinase (ALK) and positive for CD30 was found, suggestive of systemic anaplastic large T-cell lymphoma (S-ALCL). The patient was treated with chemotherapy, followed by allogeneic bone-marrow transplant (BMT). Over the following 6 years, she presented with biopsy-confirmed LyP relapses with complete cutaneous, peripheral-blood and bone-marrow chimerism. This is only the third reported paediatric association of S-ALCL with LyP to our knowledge, and seems to be the first paediatric case of recurrent relapses of LyP after bone-marrow allograft for S-ALCL with total (100%) cutaneous and bone-marrow chimerism. LyP occurring after allogenic BMT does not appear to be donor-derived.

Propranolol-resistant infantile haemangiomas.

BACKGROUND: Propranolol is now widely used to treat severe infantile haemangiomas (IHs). Very few cases of propranolol-resistant IH (PRIH) are mentioned in the literature. OBJECTIVES: To describe the characteristics of PRIHs. METHODS: A national, multicentre, retrospective, observational study was conducted from February 2011 to December 2011. All patients with PRIH evaluated by the members of the Groupe de Recherche Clinique en Dermatologie Pédiatrique from 1 January 2007 to 1 December 2011 were eligible. RESULTS: Among 1130 patients treated with propranolol for infantile haemangioma, 10 (0.9%) had PRIHs. Haemangioma propranolol resistance was observed at all ages during early childhood and at any proliferation stage. CONCLUSIONS: PRIH is a rare phenomenon that raises questions and merits further investigation.

Patient satisfaction with injection devices: a randomized controlled study comparing two different etanercept delivery systems in moderate to severe psoriasis.

BACKGROUND: There is limited information regarding the acceptability of injection devices for biological agents. OBJECTIVES: The primary objective of the study was to investigate patients' perceptions on the acceptability of two devices delivering etanercept. The secondary objectives of the study were to explore whether patients' attributes are associated with preferences. METHODS: This was a multicentre, open-label, randomized, parallel-design study. Adult patients with psoriasis were randomized to receive etanercept 50 mg twice-weekly subcutaneously for 12 weeks, either as a pre-filled syringe or as a pre-filled pen. The primary outcome was the patient satisfaction at week 12 with the injection device, as measured on a 0-10-point Likert scale. The study was powered to demonstrate non-inferiority of a pen over a syringe for the primary endpoint. RESULTS: A total of 421 patients were randomized. Mean patient satisfaction at week 12 was 8.9 (±1.9) points in the pen group and 7.6 (±2.6) points in the syringe group. There was a statistically significant advantage for the pen compared with the syringe. Multiple correspondence analysis showed that very satisfied patients were the oldest and had had psoriasis for a longer duration, while less satisfied patients were the most anxious and depressed. PASI 75 response was achieved by 61% of patients in the pen group and 57% in the syringe group at week 12. CONCLUSIONS: This study showed higher patient satisfaction when injecting etanercept with a pen compared with a syringe. Factors associated with lower satisfaction are younger age, anxiety and depression.

[Amicrobial pustulosis of the skin folds and autoimmune erythroblastopenia]. / Pustulose aseptique des plis et érythroblastopénie auto-immune.

INTRODUCTION: Amicrobial pustulosis of the skin folds represents a new entity within the spectrum of neutrophilic dermatoses. This disease is characterized by acute onset of pustular lesions in the skin folds, association with an autoimmune disorder, and improvement under systemic corticosteroids. OBSERVATION: A 24-year-old woman had been presenting pustular dermatosis for several months involving the inguinal folds and the scalp. The pustules coalesced to form oozing and crusting plaques. Eczematous lesions were located on the trunk. She also presented macrocytic anemia related to autoimmune erythroblastopenia. Bacteriological culture was negative. Antinuclear antibodies were found with anti-SSA specificity. Histopathological examination of a skin biopsy specimen showed pustules in the epidermis together with an inflammatory dermal infiltrate. Cutaneous direct immunofluorescence testing was negative. The patient responded to systemic corticosteroids. DISCUSSION: Thirty-six cases of amicrobial pustulosis of the skin folds have been reported in the literature. All but two previously reported patients were females with an autoimmune disorder (chiefly systemic lupus erythematosus). The clinical picture is characterized by aseptic pustular lesions of the major and minor skin folds of the scalp and the anogenital area associated with eczematous lesions. Diagnostic criteria have recently been proposed. This disease responds to systemic corticosteroids. We report a new case of amicrobial pustulosis of the skin folds associated with autoimmune erythroblastopenia, which to the best of our knowledge has been described only once in the literature.

[Cutaneous, mucosal and systemic pyoderma gangrenosum]. / Pyoderma gangrenosum cutanéomuqueux et systémique.

BACKGROUND: Extracutaneous and mucosal involvement is rare in neutrophilic dermatoses. We report a case of cutaneous-mucosal and systemic pyoderma gangrenosum (PG) revealing myelodysplasic syndrome. CASE REPORT: A 56-year-old man was hospitalised for an inflammatory abdominal plaque with an ulcerated centre that appeared rapidly in a setting of fever of 40 degrees C, odynophagia, weight loss and arthritis of the ankle. Despite surgical abdominal repair and combined dual antibiotics, the patient remained febrile and the ulcer size continued to increase. The edges were raised, purple and necrotic. Examination revealed vegetative legions with a purple edge on the lower lip and tongue. Histological examination of the skin and mucosal biopsy samples was consistent with a diagnosis of PG. A chest-abdomen CT scan showed mesenteric panniculitis and interstitial lung disease. The bone marrow sample revealed an appearance of chronic myelomonocytic leukaemia with myelofibrosis and excessively high blast levels. Systemic corticosteroids rapidly resulted in apyrexia with healing of the cutaneous, mucosal and visceral lesions. The patient presented secondary worsening of his acute myeloid leukaemia type-IV requiring bone marrow rescue. DISCUSSION: Extracutaneous involvement in neutrophilic dermatoses is rare but takes a number of different forms. We report a case of a patient presenting multifocal PG with cutaneous, mucosal, joint, mesenteric and pulmonary involvement. Oral lesions seen in PG generally affect the palate and they are commonly associated with inflammatory intestinal diseases. Our case is original in terms of the inaugural character of the mucosal lesions, their burgeoning appearance and their location on the lips and tongue.

[Pyodermatitis-pyostomatitis vegetans with nasal involvement]. / Pyostomatite-pyodermatite végétante avec atteinte nasale.

BACKGROUND: Pyodermatitis-pyostomatitis vegetans (PPV) is a rare chronic disorder often associated with inflammatory bowel disease. We report an isolated case involving the oral, labial and nasal mucosa. PATIENTS AND METHODS: A 28-year-old man, in good general condition, presented with a 2-year history of painless stomatitis. The physical examination revealed pustular and exophytic lesions of the jugal, gingival and palatine mucosa on an erythematous background, as well as some pustular and crusted lesions of the lower lip and nostrils. Histopathological analysis revealed epithelial hyperplasia and a suprabasal cleft with some signs of acantholysis and numerous neutrophils and eosinophils. Direct and indirect immunofluorescence assay was negative. There was no associated bowel disease. We concluded on a diagnosis of PPV of younger subjects. The lesions disappeared with oral corticosteroids but with steroid dependency. DISCUSSION: PPV is a rare dermatosis associated in more than 75% of cases with inflammatory bowel disease, usually ulcerative colitis. Lesions of the oral mucosa are a constant finding and are characterised by aseptic pustules on an erythematous background. Skin lesions are pustular and more or less exophytic. To our knowledge, there have been no reports to date of intranasal lesions of PPV.

[Ecchymotic angioedema revealing childhood systemic lupus erythematosus with anti-C1q antibodies]. / Angioedèmes à évolution ecchymotique révélant un lupus érythémateux systémique de l'enfant avec anticorps anti-C1q.

BACKGROUND: Hypocomplement urticarial vasculitis syndrome may be the presenting sign of systemic lupus erythematosus. Hypocomplement urticarial vasculitis presents as atypical urticaria associated in 50% of cases with angioedema. On laboratory investigation, hypocomplementaemia is the characteristic feature, with reduced C3, C4 and C1q. This disease is very rare in children. PATIENTS AND METHODS: An eight-year-old girl was hospitalised for relapsing urticaria with ecchymotic angioedema present for one year, in a setting of impaired general health and fever. Screening for native anti-DNA and antinuclear antibodies was positive. Analysis of complement revealed activation of the classical pathway with reduced CH50, C4 and C3. These anomalies persisted outside active episodes. The C1q fraction was completely depressed and screening for anti-C1q was positive. There was no quantitative or qualitative deficit in C1-esterase inhibitor. Direct immunofluorescence of skin lesions demonstrated deposits of immunoglobulin and complement. These episodes of angioedema persisted despite long-term systemic corticosteroid therapy (1mg/kg per day). DISCUSSION: This is the first reported case of hypocomplement urticarial vasculitis syndrome arising from systemic lupus erythematosus in a child exhibiting anti-C1q antibodies. Furthermore, this case is original because of the highly ecchymotic nature of the lesions. In the presence of angioedema with ecchymotic progression associated with atypical chronic urticaria, a diagnosis of hypocomplement urticarial vasculitis syndrome should be considered.

[Surgical treatment for giant congenital nevi: what are the psychosocial consequences for the child and family?]. / Prise en charge chirurgicale des naevi géants congénitaux : quel retentissement psychosocial sur l'enfant et son entourage ?

Giant congenital nevus is a rare pathology. The incidence of malignant transformation exists and his unsightly aspect requires a early surgical treatment. All techniques of plastic surgery must have to be used. The management of the skin capital is a real surgical challenge with complications which are difficult to bear psychologically and physically for these young children. Authors present psychosocial effects of this pathology then surgical practice through 105 cases analysed. The majority of the patients had axial disposition of the nevus (head and trunk) and tissue expansion was the most utilised technique. A questionnaire estimated the notion of other's looking, congenital deformity's acceptance, surgical story's transmission, family's opinion of the surgical treatment. More than the half of families feel that their child was cast-off because of deformity. A lot of family would forget the nevus and never photographed their child with nevus. Sometimes, children could not explain their scars. Despite many hospitalisations, all the children have normal schooling and extra-school activities. It's important to begin surgical plan very early so that child could integrate their scars in their corporal schema.

[What's new in pediatric dermatology?]. / Quoi de neuf en dermatologie pédiatrique ?

The literature review in paediatric dermatology for 2007 is very rich and covers the principal themes of the speciality: eczema, angiomas, genetic diseases, and juvenile and teenage systemic diseases. The role of environmental factors in infant eczema was particularly studied, as well as the problem of therapeutic adherence in the case of topical treatments. The treatment of severe forms of angioma, such as hemangioma and vascular dysplasia were also dealt with. Several publications dealt with the paediatric specificities of auto-immune diseases: dermatomyositis, scleroderma, bullous pemphigoid. Genetic diseases with a cutaneous expression were the basis for many publications. These publications deal with the genomic aspect but also the psycho-social aspect of these chronic diseases which greatly affect the patient's quality of life.

[Systemic necrobiotic xanthogranuloma with initial pericardial and pulmonary involvement]. / Xanthogranulome nécrobiotique révélé par une atteinte péricardique et pulmonaire.

INTRODUCTION: Necrobiotic xanthogranuloma is a rare disease, usually associated with a monoclonal gammapathy. We report a case with pericardial and pulmonary involvement that preceded the appearance of the cutaneous lesions. OBSERVATION: A 58 year-old woman was hospitalized for cardiac tamponade. She has a past history of a ductal carcinoma of the right breast that had been completely cured. Pericardial and pulmonary samples showed a predominantly histiocyte monomorphous infiltrate. Twelve months later, indurated papular-like cutaneous lesions appeared around the eye orbits and on the thorax. The histological examination of the skin revealed a necrobiotic xanthogranuloma and the diagnosis of cutaneous and visceral necrobiotic xanthogranuloma was retained. The patient exhibited an IgG Kappa monoclonal gammapathy of undetermined significance. Sequential treatment with melphalan and general corticosteroids moderately improved the cutaneous lesions but did not modify the monoclonal peak. DISCUSSION: To our knowledge, this is the first case of pericardial involvement of a necrobiotic xanthogranuloma. The discovery of the disease, revealed by a visceral manifestation at the onset is uncommon. The subsequent appearance of typical cutaneous lesions permits the retrospective diagnosis of systemic necrobiotic xanthogranuloma. Because its diagnosis is difficult in the absence of concomitant cutaneous involvement, visceral localizations of the disease must be recognized.