Segmental facial infantile haemangiomas in the era of propranolol: evaluation at 6 years of age.

BACKGROUND: The long-term evolution of children with segmental facial infantile haemangioma (SFIH) treated with propranolol remains unstudied. OBJECTIVES: The objective of this study was to evaluate the neurodevelopmental features of children with SFIH treated with propranolol at 6 years of age. METHODS: This retrospective case series study was conducted from January 2008 to June 2020 using data from medical files, patient examinations and appointments spanning 6 years. To be included, patients should present SFIH and have previously received propranolol. A complete physical examination, magnetic resonance imaging (MRI) of the head, echocardiography and ophthalmologic examination should have been performed. Neurodevelopmental features were divided into cognition, audition, vision, orality, motor skills and the occurrence of new symptoms. RESULTS: Thirty children with SFIH were included. Of these, 11 presented criteria of PHACES. Evaluation of neurodevelopmental features of the children at 6 years of age showed learning difficulties in one case but grade skipping in three cases. There were six cases of unilateral hearing loss that had not been diagnosed at birth, two of oral difficulties and one of minor hypotonia. Early headache was primarily reported as the main new outcome. All children were treated with propranolol, with three following oral steroid therapy. No severe adverse effects were reported. The median length of treatment with propranolol was 16 months, and the median age at treatment cessation was 21 months. Analysis based on segment implication showed the median length of treatment to vary from 12 months (if S3 was spared) to 25 months (if at least S3 was involved). Vascular laser therapy was used in 16 patients (53.3%) and surgery in four. CONCLUSION: In this case series, children with SFIH, including patients with PHACES criteria, presented a good tolerance of propranolol, as well as encouraged neurodevelopmental data. Segmental implication appears to have a significant impact on treatment duration and associated complications.

Leg ulcers in childhood: A multicenter study in France.

BACKGROUND: Leg ulcers in adults are a major public health concern. Their incidence increases with age and many causes have been identified, predominantly associated with vascular diseases. Leg ulcers in children and teenagers are less frequent. The aim of our study was to identify the causes of leg ulcers in children and teenagers, and to evaluate their management. METHODS: This retrospective multicenter study was conducted by members of the Angio-dermatology Group of the French Society of Dermatology and of the French Society of Pediatric Dermatology. Data from children and teenagers (< 18 years), seen between 2008 and 2020 in 12 French hospitals for chronic leg ulcer (disease course>4 weeks), were included. RESULTS: We included 27 patients, aged from 2.3 to 17.0 years. The most frequent causes of leg ulcer were: general diseases (n=9: pyoderma gangrenosum, dermatomyositis, interferonopathy, sickle cell disease, prolidase deficiency, scleroderma, Ehlers-Danlos syndrome), vasculopathies (n=8: hemangioma, capillary malformation, arteriovenous malformation), trauma (n=4: bedsores, pressure ulcers under plaster cast), infectious diseases (n=4: pyoderma, tuberculosis, Buruli ulcer) and neuropathies (n=2). Comorbidities (59.3%) and chronic treatments (18.5%) identified as risk factors for delayed healing were frequent. The average time to healing was 9.1 months. DISCUSSION: Leg ulcers are less frequent in children and teenagers than in adults and their causes differ from those in adults. Comorbidities associated with delayed healing must be identified and managed. Children and teenagers tend to heal faster than adults, but a multidisciplinary management approach is necessary.

Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases.

BACKGROUND: Cutaneous mosaicism is an area of dermatology in which there has been an explosion of knowledge within the current decade. This has led to fundamental changes in the understanding of the conditions in this field, and to an ongoing paradigm shift in the approach to management of mosaic skin disorders. OBJECTIVES: To lay out the general principles of mosaicism as they are currently understood, summarize the known cutaneous mosaic abnormalities of the skin with associated phenotypic and genotypic information, review the latest trials on targeted therapies and propose guidelines for the general approach to a patient with suspected mosaicism. METHODS: This was a consensus expert review as part of the European Reference Network project (ERN-Skin). CONCLUSIONS: This study provides clinicians with a practical approach to the patient with suspected mosaicism, redefines mosaicism for the modern genetic era, and proposes a new classification system based on genetic mechanism. What's already known about this topic? Cutaneous mosaicism is a complex field of dermatology that encompasses most birthmarks, and many rare syndromes. Some cutaneous patterns are known to be seen in mosaicism. Very few treatment options are available for most mosaic abnormalities of the skin. Recent high-sensitivity genetic techniques have led to an explosion of knowledge about genotype and phenotype in the literature. What does this study add? Expert consensus from the European Reference Network project. Review of knowledge of confirmed mosaic abnormalities of the skin, including cutaneous phenotype, extracutaneous associated features and genotype. Proposed new classification of mosaic abnormalities of the skin by genetic mechanism and therefore inheritance potential. Practical tips on correct sample collection and genetic investigation. Review of trials of targeted therapies. Guidelines for a practical clinical approach to the patient with suspected mosaicism.

Soft tissue sarcoma in children, adolescents and young adults: Outcomes according to compliance with international initial care guidelines.

BACKGROUND: Outcomes for adults with soft tissue sarcoma are better when managed at referral centers. Care guidelines advise for 5 main criteria: 1-Imaging before biopsy; 2-Tumor biopsy before surgery; 3-Multidiscipinary team discussion (MTD) before biopsy; 4-Biopsy in "expert centers"; 5-Somatic molecular biology feasible. The aim is to describe and assess the prognostic impact of initial management of STS according to the type of referring centers and the number of optimal criteria. METHODS: Monocentric retrospective analysis of the management of 127 youths (0-25 years) with localized STS treated from 2006 to 2015. RESULTS: Median age at diagnosis was 9.6 years (range: 025). Overall, only 41% patients had 5/5, 28% 3-4, 31% ≤2. No adequate imaging was performed before surgery/biopsy for 18% patients, no biopsy before treatment for 29%. Patients referred by "expert centers" had higher compliance to guidelines (P = 0.025). Upfront surgery was performed in 59/127 patients. Immediate re-operation was inversely related to the number of criteria (0% when 5 criteria vs. 14% for 3-4, 46% if ≤ 2; P < 0.001). For malignant tumors, outcome was better when 5 criteria were reached: 5 year EFS 90.8% (81.4-100.0%) vs. 71.6 for (60.4-84.9%; ≤4 criteria; p = 0.033), OS 93.6% (85.5-100%) vs. 79.5% (68.9-91.8%; p = 0.11), and LRFFS 90.6% (81.0-100.0) vs. 73.1% (62.0-86.3%; p = 0.047). CONCLUSION: Less than half of the youths with STS are initially managed according to international guidelines, highlighting the need for better information about optimal management. These results plead for immediate management in reference centers to reduce initial burden of therapy.

Long-term evolving profile of childhood autoimmune blistering diseases: Retrospective study on 38 children.

BACKGROUND: Autoimmune bullous dermatoses (AIBDs) in children are uncommon, and their long-term evolution remains unknown. OBJECTIVE: The aim of this retrospective study was to characterize the long-term prognosis of AIBDs that started during childhood. METHODS: We conducted a monocentric retrospective study, in the French dermatology centre, by including all children affected by AIBDs. The long-term outcome was obtained through a phone call questionnaire. RESULTS: Sixty-three patients were included from January 1993 to December 2015, 34 female and 29 males: 27 Linear immunoglobulin A disease (LAD), 12 bullous pemphigoid (BP), 12 pemphigus, 8 herpetiform dermatitis (DH) and 4 epidermolysis bullosa aquisita (EBA). The mean age was 4.7 years old. Twenty-five patients were lost during the follow-up. For the 38 remaining patients, the mean follow-up duration for all pathologies was 6.6 years. Twenty-nine of them had at least one relapse. Late relapses were observed in two cases of DH and six cases of pemphigus (7-34 months). The mean treatment duration was 30.6 months with variability according to the AIBDs. Topical corticosteroids were used alone, effectively, for seven patients and in association with other treatment in 19 patients in complete remission. Complete remission was noted in 34/38 children with a follow-up of 4.4 years (0.08-19.5). The mean duration to complete remission was 30.5 months (6-114 months). Late nasal synechiae were reported in one EBA only. There was no significant associated comorbidity, but an association with a primary immune deficiency (PID) was observed in two cases. CONCLUSION: Childhood AIBDs appear to be of good overall prognosis but a long-term follow-up is mandatory, as relapses can be late, except for BP. The use of topical corticosteroids is frequently effective alone or in association. The association with PID leads to think about the possibility of a possible underlying dysimmunity in the child.

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.

[Extensive connective tissue nevus in children]. / Hamartome conjonctif étendu de l'enfant.

BACKGROUND: Connective tissue nevus (CTN) is a rare condition of the extracellular matrix components that generally presents as papulae of normal skin colour. This condition may be syndromic or sporadic. PATIENTS AND METHODS: We report herein two isolated cases of extensive and infiltrative CTN in children at risk for subsequent joint stiffening. The pathology samples displayed respectively mixed hamartoma and a collagenoma. DISCUSSION: The onset of these lesions is often difficult to establish, since they are usually unnoticeable at first. When confronted with extensive CTN, the main differential diagnoses are eosinophilic fasciitis and morphea, and these must be ruled out by skin biopsy. CTN is associated with osteopoikilosis in Buschke-Ollendorf syndrome. Skeletal lesions are asymptomatic and are detected by means of iterative X-ray. Their management comprises symptomatic care.

[Primary lymphedema in childhood]. / Les lymphœdèmes primaires de l'enfant.

Lymphedema results from impaired lymphatic transport with increased limb volume and is divided into primary and secondary forms. In children, primary lymphedema is the most frequent, with a sporadic, rarely familial form or associated with complex malformative or genetic disorders. Diagnosis of lymphedema is mainly clinical and lymphoscintigraphy is useful to assess the lymphatic function of both limbs precisely. The main differential diagnosis is overgrowth syndrome. Erysipelas (cellulitis) is the main complication, but psychological or functional discomfort may occur throughout the course of lymphedema. Lymphedema management is based on multilayer low-stretch bandage, skin care, and eventually manual lymph drainage. The objective of treatment is to reduce lymphedema volume and then stabilize it. Multilayer low-stretch bandage and elastic compression are the cornerstone of treatment. Parent's motivation, including self-management, is required to ensure the child's compliance and improve quality of life.

Arterial Spin-Labeling to Discriminate Pediatric Cervicofacial Soft-Tissue Vascular Anomalies.

BACKGROUND AND PURPOSE: Differentiating major subtypes of cervicofacial vascular lesions is crucial for appropriate management. The aim of our study was to evaluate the performance of an MR imaging arterial spin-labeling perfusion sequence in discriminating pediatric cervicofacial soft-tissue vascular anomalies. MATERIALS AND METHODS: We conducted a retrospective analysis of data from a prospectively maintained registry including pediatric patients at a tertiary pediatric center between January 2012 and January 2014. We included pediatric patients with a final diagnosis of soft-tissue vascular anomalies and an MR imaging, including an arterial spin-labeling sequence at presentation. We performed an analysis of lesion perfusion, blinded to clinical data, by using concurrent spiral 3D pseudocontinuous arterial spin-labeling (1.5T magnet; spiral matrix, 512 × 8 mm; postlabeling delay, 1025 ms). Lesional flow was recorded with calibrated intralesional ROIs. Perfusion characteristics were compared among lesion subtypes with the Mood Median test. RESULTS: Among 840 patients screened, 46 matched the inclusion criteria and were included (median age, 1.45 years; interquartile range, 0.4-5.1 years; 27 females). Hemangiomas, including infantile hemangiomas (n = 18 patients) and noninvoluting (n = 2) and rapidly involuting (n = 1) congenital types, demonstrated marked hyperperfusion (median flow, 436 mL/min/100 g; interquartile range, 212.5-603 mL/min/100 g), significantly higher than that of lymphatic malformations (median, 22.5 mL/min/100 g; interquartile range, 16-60 mL/min/100 g; P < .001) or venous malformations (median, 25 mL/min/100 g; interquartile range, 15-66.5 mL/min/100 g; P = .003). CONCLUSIONS: MR imaging arterial spin-labeling is a valuable tool for the assessment of soft-tissue vascular anomaly hemodynamics and for the classification of major lesion subtypes.