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This work reports 30 cases of folliculitis decalvans (FD) in patients with dystrophic epidermolysis bullosa (DEB) among a cohort of 125 DEB patients seen between 2010 and 2021 in 2 French expert centers for the management of inherited epidermolysis bullosa. Such an association between two rare diseases cannot be fortuitous and implies a physiopathological link that we discuss in this paper. This association is a new significant fact to add to the reflexion on FD causes, suggesting that skin abnormality of DEB could act as a factor of a specific skin barrier alteration which could favor FD. Scarring alopecia with tufted folliculitis and pustules on inflamed skin at the vertex of a woman with dominant dystrophic epidermolysis bullosa. more...

Slow-flow vascular malformations (VMs), especially those with venous components, can be complicated by localized intravascular coagulopathy (LIC), responsible for pain and impaired quality of life. Several studies have shown the effectiveness of mTOR inhibitors (especially sirolimus) on slow-flow VMs but its effect on coagulation has been poorly studied, especially in children. Our study shows that venous and combined VMs are associated with coagulation abnormalities and provides novel evidence that sirolimus improves coagulopathy in venous malformations. However we did not clearly evidence predictive biomarkers of response to sirolimus but this is the first study attempting to highlight predictive markers of response to sirolimus. more...

International audience; BACKGROUND: Scabies is a frequent condition seen in infants and children. Only topical treatments have been approved in infants, but some of them are poorly tolerated. Oral ivermectin is approved for the treatment of scabies in several countries, but its use in infants and children weighing < 15 kg is off label. OBJECTIVES: To assess the safety of ivermectin in infants and young children, and to collect data on ivermectin efficacy in these age groups. METHODS: This study was performed in the dermatology and paediatric dermatology departments of 28 French centres between July 2012 and November 2015. Physicians treating an infant or child weighing < 15 kg for scabies with oral ivermectin were asked to send back a completed standardized and anonymous questionnaire, and the data were analysed. RESULTS: Data were collected on 170 infants and children aged 1-64 months, with a body weight of 4-14·5 kg, who were treated with oral ivermectin. The mean dose received was 223 μg kg-1 and 89% of the patients received a systematic second dose. Concomitant topical treatment was administered to 73% of patients. Adverse events were reported in seven patients (4%) and were not severe. At the follow-up visit, 139 (85%) patients had achieved healing. Factors significantly associated with healing were an ivermectin dose > 200 μg kg-1 (P < 0·001), and a delay between those two doses of < 10 days (P = 0·025). CONCLUSIONS: Our findings suggest the safety and efficacy of ivermectin for the treatment of scabies in infants and young children. What's already known about this topic? Scabies is a frequent condition in small children and infants, but the therapeutic options are limited. Ivermectin has been approved for the treatment of scabies in adults and children > 15 kg, but its use is off-label in infants and children weighing < 15 kg. Safety data on the use of ivermectin in children weighing < 15 kg are limited. What does this study add? Of 170 infants and children weighing < 15 kg who were treated for scabies with oral ivermectin, there were only seven reported mild adverse events and no serious ones. Our results show that ivermectin is effective in treating scabies in 85% of patients. Efficacy is higher when the received dose exceeds 200 μg kg-1 and when the delay between the two doses is < 10 days. Respond to this article. more...

SummaryBackground Genetics discoveries have allowed for better understanding capillary malformations (CMs) with overgrowth syndrome. However, molecular analyses are still not easy to perform or interpret. Other analytical methods are needed. Objective We aimed to identify clinical and hemodynamic factors associated with leg length discrepancy (LLD) in children with CM of lower limbs. Methods Data were obtained from the multicentre French national cohort CONAPE (COhorte Nationale d'enfants atteints d'Angiome Plan de membrE inferieur), including children from 2 to 12 years old with CM of lower limbs. Clinical characteristics were prospectively collected. Hemodynamic factors were measured by an echographer 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 analyzed 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. Thirty-two patients (33%) had venous anomalies, 13 (14%) lymphatic anomalies, and in 1 child, diagnosis of Parkes Weber syndrome was made. Only increased circumference above the knee was more frequent with than without LLD (50% vs 13%, p=0.02). In all, 10/79 patients (13%) showed a difference in ABF ≥50%: 4 had LLD. The frequency of differences in ABF ≥50% was greater with than without LLD [33.3% (n=4/12) vs 9.0% (n=6/67), p=0.04]. Conclusions ABF measured by Duplex ultrasonography is a simple, low-cost and non-invasive complementary examination for help in detecting LLD, with a difference ≥ 50% possibly associated. This article is protected by copyright. All rights reserved. more...

Summary 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. more...

Summary Background Acral naevi are a peculiar subtype of naevus with specific dermoscopic patterns. Little is known about congenital melanocytic naevi affecting acral volar skin in children. Objectives To determine the dermoscopic features of acquired and congenital acral melanocytic naevi in children and to assess their key differences in this age group. Methods This was a prospective observational controlled study conducted in two outpatient dermatology university hospitals in Nice, France. We recruited 24 children with 24 congenital acral melanocytic naevi (CAMNs) and 26 children with 33 acquired acral melanocytic naevi (AAMNs), and determined the clinical and dermoscopic features of both. Images were evaluated and compared by two dermatologists. Fourteen patients with CAMN were followed up. Results CAMNs were larger, and more asymmetrical and comma shaped than AAMNs. The parallel furrow pattern was predominant in CAMN (75%) and AAMN (79%). Globules were more frequent in CAMN (88%) than in AAMN (61%) (P = 0·026), often with a ‘pearl necklace’ distribution along skin markings. Central blue-grey pigmentation was present in 50% of CAMNs vs. 9% of AAMNs (P = 0·001). A new dermoscopic feature of central enlarged pink ridges was observed in 54% of CAMNs vs. 6% of AAMNs (P more...

Summary Background Aplasia cutis congenita (ACC) has been associated with all clinical forms of inherited epidermolysis bullosa (EB), including dominant and recessive dystrophic EB (DDEB and RDEB). To date, only a few patients with DEB specifically combined with ACC have been described and genotyped and almost all cases represent dominant forms of the condition. Objectives The aim of this study was to describe new mutations of COL7A1 in patients with DEB and ACC and investigate possible genotype–phenotype correlations. Methods Twenty-two patients with DEB and ACC were included among the 123 patients with DEB whose COL7A1 mutations have been identified in the Reference Centre in Nice. Results Seven patients presented a severe generalized RDEB phenotype (RDEB-sev-gen), while the other 15 suffered from milder phenotypes. We identified 28 mutations in COL7A1, of which nine are novel. Patients with severe phenotypes have mostly mutations leading to premature termination codon (PTC) and/or splice-site or missense mutations. Patients with the milder phenotypes have mostly glycine or arginine substitutions associated or not with other types of mutations. All amino acid substitutions fell within the carboxyl portion of the triple helix domain (THD) of collagen VII, close to the THD interruptions. Conclusions Our findings suggest that ACC is a frequent manifestation in patients with DEB irrespective of the severity of the disease, and is due to leg rubbing in utero. In children with a moderate form of DEB with no or moderate skin fragility, a glycine substitution near the THD interruption domain of the collagen VII leading to thermolabile protein could explain this phenomenon. more...

Summary Backround 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 Pediatrique 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. more...

Summary Background Genetic mutations in the plectin gene (PLEC) cause autosomal recessive forms of epidermolysis bullosa simplex (EBS) associated with either muscular dystrophy (EBS-MD) or pyloric atresia (EBS-PA). Phenotype–genotype analysis has suggested that EBS-MD is due mostly to genetic mutations affecting the central rod domain of plectin, and EBS-PA to mutations outside this domain. Objectives This study aimed to describe new phenotypes of patients with EBS-MD and EBS-PA, to identify novel PLEC mutations and to establish genotype–phenotype correlations. Methods Seven patients with a suspicion of EBS linked to PLEC mutations were included. A standardized clinical questionnaire was sent to the physicians in charge of each patient. Immunofluorescence studies of skin biopsies followed by molecular analysis of PLEC were performed in all patients. Results We report the first case of nonlethal EBS-PA improving with age, the first multisystemic involvement in a patient with lethal EBS-PA, and the first patients with EBS-MD with involvement of either the bladder or oesophagus. Eleven novel PLEC mutations are also reported. Conclusions Our results confirm that EBS-PA is linked to mutations in the distal exons 1–30 and 32 of PLEC. Long-term survival is possible, with skin improvement, but a delayed onset of MD is probable. While EBS-MD is linked to PLEC mutations in all exons, in most cases one of the mutations affects exon 31. The precocity of MD seems to be linked to the type and localization of the PLEC mutation(s), but no correlation with mucosal involvement has been found. more...