Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE.

BACKGROUND: Genetics discoveries have allowed for a better understanding of capillary malformations (CMs) associated with overgrowth syndrome. However, molecular analyses are still not easy to perform or interpret. Other analytical methods are needed. OBJECTIVES: To identify clinical and haemodynamic factors associated with leg length discrepancy (LLD) in children with CMs of the lower limbs. METHODS: Data were obtained from the multicentre French national cohort CONAPE (COhorte Nationale d'enfants atteints d'Angiome Plan de membrE inférieur), from children aged 2-12 years old with CMs of the lower limbs. Clinical characteristics were prospectively collected. Haemodynamic factors were measured by an sonographer who calculated the arterial blood flow (ABF) in both lower limbs. An ABF difference ≥ 50% between the two lower limbs was considered relevant. LLD ≥ 2% was determined by the same radiologist on centralized radiographs. RESULTS: We analysed data at baseline for 96 children. The mean ± SD age was 5·6 ± 3·1 years; 49 (51%) were male; and 14 (15%) showed LLD. In total, 32 patients (33%) had venous anomalies, 13 (14%) lymphatic anomalies and in one child a diagnosis of Parkes Weber syndrome was made. Only an increased circumference above the knee was more frequent with than without LLD (43% vs. 13%, P = 0·02). In all, 10/79 patients (13%) showed a difference in ABF ≥ 50%: four had LLD. The frequency of differences in ABF ≥ 50% was greater with than without LLD [33% (n = 4/12) vs. 9% (n = 6/67), P = 0·04]. CONCLUSIONS: ABF measured by Duplex ultrasonography is a simple, low-cost and noninvasive complementary examination for help in detecting LLD, with a difference of ≥ 50% possibly associated.

[Impact of sex and age on the clinical and epidemiological aspects of childhood psoriasis: Data from a French cross-sectional multicentre study]. / Impact de l'âge et du sexe sur les aspects cliniques et épidémiologiques du psoriasis de l'enfant. Données d'une étude transversale multicentrique française.

BACKGROUND: The prevalence of childhood psoriasis is estimated at between 0.4% and 0.7%. Clinical aspects of the diseases depend on age. The aim of this study was to investigate the clinical aspects of psoriasis according to age and sex. PATIENTS AND METHODS: A cross-sectional, multicentre study of children with psoriasis was performed by investigators belonging to the Research Group of the French Society of Paediatric Dermatology. The study was conducted from April 2012 to March 2013. Inclusion criteria were age less than 18 years and clinical diagnosis of psoriasis. The children were classified into 3 groups by age: infants: <2 years; children: ≥2 years and <13 years; adolescents≥13 years. The information collected included demographic data, clinical, epidemiological, and therapeutic aspects of the psoriasis, as well as analysis of comorbidities. RESULTS: Three hundred and thirteen children were included: 27 (8.6%) infants, 207 (66.1%) children, and 79 (25.2%) adolescents. Plaque psoriasis was the most frequent clinical type of psoriasis seen in children and adolescents (>41%), but it accounted for only 25.9% of psoriasis of infants (P<0.0001). Napkin psoriasis (37.0%) and inverse psoriasis (22.2%) were the most common forms of psoriasis seen in infants and were described significantly more frequently in this group than in the two other groups (P<0.003). Nail involvement was more common in adolescents (37.2%, P=0.03) and children (32.9%) than in infants (14.8%) and affected boys more than girls (43.6% vs 22.0%, P<0.0001). Girls presented scalp psoriasis more frequently (17.7% vs 8.7%, P=0.02). Local vitamin-D treatment and systemic therapies were used more frequently in children and adolescents than in infants. There was no significant difference for treatment use, including for acitretin, according to gender. DISCUSSION: Plaque psoriasis was the most common clinical type of psoriasis in children but affected less than 50% of the children. Age had a significant impact on extra-cutaneous skin disorders and on treatment used, while sex had little incidence. The frequency of comorbidities was not affected by age. CONCLUSION: Childhood psoriasis thus presents specific characteristics dependent on the age of the child. The results of studies exclusively dealing with adults cannot be extrapolated to children.

[Infantile haemangioma: When investigation is necessary and current therapeutic developments]. / Hémangiomes infantiles : quand explorer et actualités thérapeutiques.

Infantile haemangioma (IH) is the most frequent benign tumour seen in children. In most cases, diagnosis is made chiefly on clinical grounds, and because the condition tends to subside naturally within several years and without any major sequelae, therapeutic abstention is the rule. However, a number of additional investigations may be necessary: where the clinical picture is atypical or potentially confusing, where the condition may affect adjacent or remote structures, in screening for associated anomalies in certain syndromal forms which practitioners must be able to recognise. Such investigations facilitate therapeutic indications for forms of haemangioma likely to lead to complications. The most important recent therapeutic development has been the discovery of the spectacular efficacy of beta-blockers (propranolol) upon the development kinetics of infantile haemangioma, greatly transforming the prognosis for these haemangiomas at risk.

Psoriasis and obesity in French children: a case-control, multicentre study.

BACKGROUND: Obesity is more common in adults with psoriasis than in the general population, but there is a lack of data available regarding this association in children. OBJECTIVES: To evaluate whether obesity was more common in French children with psoriasis of any clinical type or severity. METHODS: A multicentre case-control study was performed in 23 French dermatology centres. Children without chronic or genetic inflammatory disease were selected as controls and matched for age, sex and dermatology centre. We used three weight cut-off categories to compare the two groups: overweight, overweight with abdominal obesity and overweight with obesity according to the French Health Authority guidelines. RESULTS: A total of 261 children with psoriasis were included. The mean age was 9.8 years, 126 were boys and 135 were girls. Overall, 42.5% of these children had plaque psoriasis and 32.2% had severe psoriasis. There was no difference between the psoriasis and control groups when the frequency of children who were overweight was compared (20·7% in psoriasis group vs. 17·1% in control group; P = 0·18). Overweight with abdominal obesity including obesity (18·4% vs. 10·4%; P = 0·009) and obesity alone (10·0% vs. 3·1%; P = 0·001) were more common in the psoriasis group. CONCLUSIONS: This study shows that being overweight with abdominal obesity and being obese is more common in children with psoriasis than in controls. The risk factors are the same as those that affect the French general population, i.e. female sex and having a parent who was overweight. The severity and clinical type of psoriasis do not affect overweight and obesity.

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.

[Kaposiform haemangioendothelioma associated with B-cell acute lymphoblastic leukemia]. / Hémangioendothéliome kaposiforme associé à une leucémie aiguë lymphoblastique B.

BACKGROUND: Herein, we report the first case of kaposiform haemangioendothelioma (KHE) associated with acute B-lymphoblastic leukemia (B-ALL). PATIENTS AND METHODS: A five-month-old infant presented a plaque of angiomatous appearance on the forearm that had increased in volume since birth, as well as pallor and cutaneous haematomas. Kasabach-Merritt syndrome (KMS) was evoked despite hepatomegaly and considerable splenomegaly. Laboratory tests revealed severe anaemia and thrombocytopenia as well as major hyperleukocytosis with 90% blasts. Skin biopsy revealed vast vascular lobules containing cohesive fusiform endothelial cells not expressing Glut1, bound up in a dense infiltrate of B-lymphoblast cells. It was in fact KHE associated with B-ALL confirmed by the myelogram. The child was treated with the INTERFANT 2006 protocol followed by allograft of haematopoietic stem cells, which resulted in complete haematological remission. At the same time, almost total regression of KHE was noted. DISCUSSION: In this infant, KHE had an inflammatory appearance and was associated with thrombocytopenia, evocative of KMS. Analysis of blood and marrow samples resulted in a diagnosis of B-ALL. Histopathological examination of the angioma revealed a typical appearance of KHE associated with dense lymphoblastic proliferation. This appearance could have resulted either from passive contamination by circulating blast cells or from active recruitment of tumor cells at the KHE site. CONCLUSION: HK mimicking KMS may reveal B-ALL.

[Acute idiopathic scrotal oedema in young boys: A report of ten cases and a review of the literature]. / Œdème aigu scrotal idiopathique de l'enfant : présentation d'une série de dix cas et revue de la littérature.

BACKGROUND: acute idiopathic scrotal oedema (AISO) is most commonly seen in boys aged between 5 and 10 years. It comprises a benign dermatosis of spontaneously favourable outcome but requiring surgical exploration in some cases in order to rule out testicular torsion. Our retrospective study of a series of 10 children presenting AISO allowed us to set out the specific features of this dermatological disorder well-known to paediatric surgeons, but concerning which only one publication exists in the dermatology literature. PATIENTS AND METHODS: this was a retrospective study of the files of all children seen in the paediatric surgery department of Reims University Hospital between 1996 and 2008 for acute scrotal oedema. Diagnosis of AISO was made on the basis of clinical criteria after ruling out potential differential diagnosis. The demographic, clinical and laboratory data were collated from patient files. Long-term outcome was determined by means of telephone calls. RESULTS: among 185 cases of acute scrotal disease, 10 cases of AISO (5.4%) were identified. The mean age at onset of the initial episode was 6 years (range: 3 to 12 years). Oedema was unilateral in eight cases and bilateral in two cases; there was involvement of the inguinal folds, the perineum and the homolateral buttock in three cases, and of the penis in one case. The skin was erythematous and relatively non-inflamed in all but one case. Non-focal scrotal pain was present on palpation in nine cases. General health status was unimpaired and none of the children presented any associated signs. White cell count was between 7000 and 12000 per millimeter cube, with no neutrophil polynucleosis or inflammatory syndrome; in three cases, hypereosinophilia was between 700 and 2300 per millimeter cube. Two patients underwent surgical exploration to rule out testicular torsion; Doppler ultrasound was performed in the remaining eight cases and no surgery was required in six cases. In all cases, a favourable outcome was attained within 2 to 3 days and there were no sequelae. Five children presented a total of 21 recurrences (between three and eight per child) over a maximum period of 12 years. DISCUSSION: the clinical characteristics of our patients are entirely consistent with the descriptions given in the literature. The chief problem with AISO is differential diagnosis; in this respect, Doppler ultrasound may be useful in obviating surgical investigation for testicular torsion. Treatment involves bed rest and analgesics where necessary; a rapidly favourable outcome is achieved within 2 to 3 days, but relapse occurs in at least 20% of cases, although these were more frequent and more numerous in our series. The aetiopathogenesis has not yet been fully elucidated. CONCLUSION: Identification of AISO, a fairly stereotypical though misunderstood diagnostic entity, is useful in order to avoid unwarranted medical treatment and, above all, unnecessary surgical exploration.

[Epidermolysis bullosa acquisita of childhood]. / Epidermolyse bulleuse acquise de l'enfant.

BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a subepidermal autoimmune blistering disease characterized immunologically by autoantibodies to type VII collagen. Its occurrence in childhood is rare. Thirty-five cases have been described to date in the literature. PATIENTS AND METHODS: We report the case of an 8-year-old girl presenting blistering lesions on the cheeks, extremities and limb extension areas. The diagnosis of EBA was confirmed by histology, direct immunofluorescence of a perilesional skin biopsy specimen, indirect immunofluorescence on salt-split skin substrate and direct electron microscopy. The patient was controlled clinically under treatment with dapsone alone. DISCUSSION: This 36th childhood case of EBA presented typical clinical features, a similar prognosis and comparable treatment response to other paediatric cases. Clinical presentation is inflammatory and affects the face. As in our case, in childhood, prognosis is often better than in adults without the need for immunosuppressive agents.

[Juvenile pemphigus vulgaris]. / Pemphigus vulgaire de l'enfant.

BACKGROUND: Pemphigus vulgaris is a rare autoimmune blistering disease seen only, rarely, in children. CASE-REPORT: Two young girls, aged four and 15 years respectively, presented with oral and/or cutaneous blisters (case 2). The diagnosis of pemphigus vulgaris was confirmed by histology (suprabasal acantholysis) and immunopathological analysis (direct and indirect immunofluorescence, antidesmoglein-3 plus or minus antidesmoglein-1 antibodies by ELISA). In case 2, caused by corticosteroid dependence and after the failure of intravenous immunoglobulin, the patient was successfully treated with rituximab. DISCUSSION: Juvenile pemphigus vulgaris is rare and its occasionally clinically atypical presentation can result in delayed diagnosis and management. Firstline therapy generally comprises systemic corticosteroids. Some cases of recalcitrant pemphigus vulgaris in adults with a refractory course, despite adequate systemic corticosteroids, have been successfully treated with rituximab, as in our case 2. To our knowledge, only two other cases of juvenile pemphigus vulgaris treated with rituximab have been reported.

Congenital solitary histiocytoma: a variant of Hashimoto-Pritzker histiocytosis. A retrospective study of 8 cases.

BACKGROUND: Self-healing solitary-lesion Hashimoto-Pritzker histiocytosis (HPH), a rare, congenital, purely cutaneous Langerhans histiocytosis (only 30 cases reported), carries a good prognosis. OBJECTIVE: To describe the clinical and histopathological characteristics of solitary HPH. METHODS: To conduct a retrospective, observational study on 8 affected newborns. RESULTS: For these infants, with otherwise normal physical examinations, the unique nodule or papule (5-15-mm diameter) was congenital. Systematic routine histological examination of the lesions found dermal infiltrates constituted predominantly of histiocytes with lymphocytes and eosinophils. Protein S100 and CD1a immunolabelings, done for 7 patients, were positive. Electron microscopy (n = 4) observed Birbeck granules. No visceral involvement or recurrence has ever been observed after 2-12 years of follow-up. CONCLUSIONS: Because of its self-healing nature, congenital solitary HPH frequency has probably been underestimated. In the absence of systemic involvement, regular physical examination for at least 2 years seems a valid approach.

Idiopathic facial aseptic granuloma: a multicentre prospective study of 30 cases.

BACKGROUND: Idiopathic facial aseptic granuloma (IFAG) was recently described in a single-centre retrospective study as a skin condition that occurs specifically in childhood. OBJECTIVES: To improve our epidemiological, clinical and pathological knowledge on IFAG, to search for an infectious aetiology, and to assess therapeutic recommendations. METHODS: Children presenting with one or several acquired nodules on the face, lasting for at least 1 month, with no evidence of any other recognizable clinical entity such as infantile acne, pilomatrixoma, furuncle, tumour or vascular malformation, were enrolled in a prospective multicentre study from June 2001 to June 2004, involving the main French paediatric dermatology outpatient units. We recorded clinical details about the nodule and its duration, ultrasound study pattern, cultures for bacteria and mycobacteria, and Bartonella henselae and Afipia felis antibody testing. RESULTS: Thirty children (17 boys and 13 girls, mean age 3.8 years) were enrolled. Ultrasound studies revealed a solid well-demarcated hypoechoic lesion without calcium deposit. Cultures for bacteria were negative in 70% of cases. Cultures for mycobacteria and cat scratch disease serologies were negative. Antibiotic therapy was ineffective; the lesion healed spontaneously with a mean duration of 11 months. Histological examination, performed in five cases, showed a chronic dermal lymphohistiocytic granuloma with numerous foreign body-type giant cells. CONCLUSIONS: IFAG is characterized by a painless facial nodule, presenting as a single lesion localized on the cheek, with a prolonged course but spontaneous healing. Oral or local antibiotics are usually ineffective. Regarding the pathophysiology, our study rules out a primary infectious disease, and allows considering IFAG either as a granulomatous process appearing around an embryological residue or as a manifestation to include in the spectrum of granulomatous rosacea in childhood.

[Bilateral frontal polymicrogyria and Ehlers-Danlos syndrome]. / Polymicrogyrie bifrontale et syndrome d'Ehlers-Danlos.

The authors describe the case of a six-year-old girl with Ehlers-Danlos syndrome associated to bilateral symmetrical frontal polymicrogyria. Several extracellular matrix components, including collagen, are directly implicated in the neuronal migration. We think that a defect in collagen or in another extracellular matrix protein during fetal development could result in this association.

[Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects)]. / Aplasie cutanée congénitale, défaut de compaction du ventricule gauche et troubles du rythme cardiaque graves : un nouveau cas de syndrome MLS (microphtalmia with linear skin defects).

A female neonate presented with cutaneous aplasia located to the face and the neck associated with a non compaction of the left ventricle leading to the diagnosis of MLS syndrome (microphtalmia with linear skin defects). The follow-up was complicated by life-threatening cardiac arrhythmia underlying prevention by an early diagnosis and adequate care. MLS syndrome and non compaction of myocardium are both located on X chromosome.

[Cutaneous granulomatous lesions disclosing ataxia-telangiectasia]. / Lésions granulomateuses cutanées révélatrices d'une ataxie-télangiectasie.

INTRODUCTION: Idiopathic cutaneous granulomatous lesions are exceptionally described in the course of congenital immunodeficiency, including ataxia-telangiectasia. CASE REPORT: We describe a new case of a 28-month girl who presented granulomatous skin lesions revealing a previously unknown ataxia-telangiectasia in the absence of typical neurologic signs, telangiectasia and infectious complications. The clinical aspect showed infiltrated erythemato-squamous plaques and nodules predominating on the face and limbs. These lesions increased in number without remission. Histological examination revealed a nodular, lymphohistiocytic infiltration with granulomatous tendency in the deep dermis and the hypodermis. Before the onset of skin treatment, the child developed an Epstein-Barr-virus related lymphoproliferation. Immunoglobulins and oral corticosteroids associated with chemotherapy permitted the regression of the granulomatous lesions but not of the fatal spread of the lymphoproliferative syndrome. DISCUSSION: These rare cutaneous manifestations are important to know because they can be the initial sign of an immunodeficiency. Clinical and histological aspects are characteristic. They are eventually associated with visceral granulomatous lesions. Physiopathology remains hypothetical. An abnormal immune response to an undetermined antigenic stimulation could be suspected in this particular context. The question of a correlation between these lesions and a proliferative syndrome remains open.

Recurrent painful hand crisis in a four-year-old girl, revealing an erythropoietic protoporphyria.

We report the case of a 4-year-old girl, who had been suffering for 2 years from a recurrent, painful crisis affecting both hands, following sun exposure. There were no obvious cutaneous lesions, which initially caused us to consider a diagnosis of a psychiatric disorder. However, the diagnosis of erythropoietic protoporphyria was then established by the demonstration of elevated levels of free protoporphyrin in erythrocytes. The present case illustrates the effectiveness of beta-carotene associated with canthaxanthin in erythropoietic protoporphyria.

[Unilateral gustatory flushing syndrome in a child]. / Syndrome des flushs gustatifs unilatéraux de l'enfant.

BACKGROUND: Auriculo-temporal syndrome is rarely seen in children: it is sometimes considered as secondary to an obstetrical injury. CASE REPORT: A 2.5 year-old boy was examined because he suffered from post-prandial flushing of the right cheek for 2 years. He was born normally and neurologic examination was normal. The rash was not associated with sweating or tearing. CONCLUSION: There is no evidence to support food allergy in this case: rather, this syndrome probably occurs in response to salivation.