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.
What's already known about this topic?
The frequency and severity of psoriasis are associated with a high prevalence of obesity in adults.
Obesity is associated with severe plaque psoriasis in children.
What does this study add?
Childhood psoriasis is associated with overweight with abdominal obesity, or obesity per se irrespective of the type of psoriasis and its severity.
There is no difference in the determinants for obesity in children with psoriasis and controls.
The main determinants for overweight in children with psoriasis are female sex and having a parent who is overweight.
Summary
Papillomatous pedunculated sebaceous naevus (PPSN) has been described as a subtype of sebaceous naevus (SN), typically affecting the scalp and face. In contrast with Schimmelpenning syndrome, ...no cerebral, ocular or skeletal anomalies have hitherto been reported. We report two unrelated fetuses with PPSN, one with large pink exophytic tumours, the other with minor features but similar microscopic findings. We performed whole‐exome sequencing in affected skin tissue from fetus 1, which identified a postzygotic de novo FGFR2 c.1144T>C (p.Cys382Arg) mutation in 34·6% of reads which was absent in the parents’ blood. Targeted deep sequencing of FGFR2 confirmed its mosaic status in additional affected skin from fetus 1, and identified the same substitution in 26% of reads in affected skin from fetus 2. FGFR2 p.Cys382Arg is a known somatic driver mutation in human cancer, previously reported to result in activation of RAS signalling. A similar paralogous missense mutation in the transmembrane domain of FGFR3 (p.Gly380Arg) has been reported in keratinocytic epidermal naevi. Our findings define a distinct clinical and molecular subgroup of SN, beside HRAS or KRAS‐related SN, and expand the spectrum of mosaic skin conditions associated with receptor tyrosine kinase mutations.
What's already known about this topic?
A rare subtype of papillomatous pedunculated sebaceous naevus (PPSN) has been reported in neonates and a fetus.
Most epidermal naevi have been associated with postzygotic mutations in genes encoding cell growth and proliferation signalling molecules: HRAS and KRAS in sebaceous naevi (SN), FGFR2 in acne or comedo naevi, and HRAS, KRAS, NRAS, FGFR3 and PIK3CA in keratinocytic epidermal naevi.
What does this study add?
Here we report a novel postzygotic activating FGFR2 mutation in two unrelated fetuses with PPSN.
Mosaic receptor tyrosine kinase gene mutations, particularly in FGFR2, have not previously been reported in SN.
Linked Comment: Has. Br J Dermatol 2017; 176:15–16.
EBS generalized severe is an inflammatory disease Castela, E.; Tulic, M.K.; Rozières, A. ...
British journal of dermatology (1951),
February 2019, 2019-02-00, 20190201, Letnik:
180, Številka:
2
Journal Article
Recenzirano
Odprti dostop
Summary
Epidermolysis bullosa (EB) is a group of genetic disorders in which the skin is abnormally fragile. In EB simplex, the skin cells tend to fall apart because their internal scaffolding of ...keratin fibres is defective, due to mutations in the genes encoding keratins type 5 or 14 (KRT5 and KRT14). But people with the generalised, severe type of EB simplex (EBS‐GS) are sometimes more ill than would be expected just from a mechanical problem with the skin; some even die in infancy, usually from infection. This group from France and Scotland explored the possibility that EBS‐GS patients also have a faulty immune system. They re‐examined skin specimens taken previously for diagnostic purposes from 17 patients with EBS‐GS and also tested fresh skin biopsies and blister fluid from a further 10 patients. They consistently found more inflammatory cells and higher levels of chemicals which promote inflammation (cytokines) than normal. The findings were the same regardless of whether the sample was from blistered or normal‐looking skin and whether the fault was in KRT5 or KRT14. Markers for the cytokine Th17 were particularly high, encouraging them to treat three EBS‐GS patients with the anti‐Th17 drug Apremilast as used in psoriasis. All three reported a dramatic reduction in blisters within the first month, which lasted throughout treatment for up to 10 months, with minimal side‐effects. One patient stopped the Apremilast after 7 months because of nausea and the blistering came back 2 days later. This appears to be a promising new approach to treating EBS‐GS.
Linked Article: Castela et al. Br J Dermatol 2019; 180:357–364
Mosaicism in women with focal dermal hypoplasia Heinz, L.; Bourrat, E.; Vabres, P. ...
British journal of dermatology (1951),
March 2019, 2019-03-00, 20190301, Letnik:
180, Številka:
3
Journal Article
Recenzirano
Odprti dostop
Summary
This report from Germany and France describes four women with focal dermal hypoplasia (FDH), a genetic condition affecting the skin, skeleton, teeth and eyes. FDH is caused by a mutant ...(abnormal) gene called PORCN, found on the X chromosome. Male embryos with the mutant gene do not usually survive. Females are more complicated. Firstly, they have two X chromosomes, but for FDH to show up it only needs the mutant gene to be present on one of them. Secondly, soon after conception one of the two X chromosomes in each cell of the embryo is randomly deactivated. Cell lines (daughter cells) from cells where the normal X chromosome remains active develop normally; cell lines where the abnormal X chromosome remains active develop abnormally owing to the mutant gene. This phenomenon, where cell lines in an individual represent different genetic populations, is called mosaicism (and, incidentally, explains why tortoiseshell cats are always female). The FDH mutation also frequently happens spontaneously after fertilisation, in the earliest stages of development, but before X chromosome deactivation. The main message from this report is that one cannot exclude FDH simply by using standard genetic tests on blood alone. In affected women, in whom the clinical signs may be subtle and a blood test negative, because of mosaicism the abnormal gene may still be found in those skin cells where the X chromosome carrying it remains active. Importantly, the ovaries may also contain such cells, in which case the condition could be passed on to children.
Linked Article: Heinz et al. Br J Dermatol 2019; 180:657–661
A marked increase in frequency of acute acral eruptions (AAE) was observed in children during the COVID-19 pandemic in the spring period.
In this observational multicenter study, based on children ...with AAE, we aimed to assess the proportion of household members possibly infected by SARS-CoV-2.
We collected data from all children observed with AAE, prospectively from April 7, 2020 to June 22, 2020, and retrospectively since February 28, 2020. The primary outcome was the household infection rate, defined as the proportion of family clusters having at least one member with COVID-19 infection other than the child with AAE ("index child"). The definition of a case was based on characteristic clinical signs and a positive PCR or serology.
The study included 103 children in 10 French departments and in Quebec. The median age was 13 years and the interquartile range 8-15, with a female-to-male ratio of 1/1.15. In children with AAE, all PCR tests were negative (n=18), and serology was positive in 2/14 (14.3%) cases. We found no significant anomalies in the lab results. A total of 66 of the 103 families (64.1%) of included children had at least one other infected member apart from the index child. The total number of household members was 292, of whom 119 (40.8%) were considered possibly infected by SARS-CoV-2. No index children or households exhibited severe COVID-19.
Among the 103 households included, 64.1% had at least one infected member. Neither children with AAE nor their households showed severe COVID-19.
Background
There is limited information about active tuberculosis (TB) occurring in psoriasis patients treated with Tumor necrosis factor (TNF) antagonists.
Objective
To describe the clinical ...characteristics of TB in psoriasis patients treated with TNF antagonists.
Methods
Nationwide retrospective study of psoriasis patients having experienced TB. Cases of TB were collected via three methods: search in the national pharmacosurveillance database, questionnaire to members of the French psoriasis research group, the college of French dermatology professors. We collected demographic data, TNF antagonist used, screening for latent tuberculosis infection, median time between TNF antagonists introduction and first symptoms, tests used for diagnosing TB infection, clinical features of tuberculosis and outcome.
Results
Eight centres reported 12 cases of TB between 2006 and 2014. They were nine men and three women with mean age of 49 years. All patients had adequate screening for latent tuberculosis. Three patients had stayed in endemic areas, three reported contact with a patient with TB. Tuberculosis presentation was extrapulmonary in 10 patients. Seven patients were treated with infliximab, four with adalimumab and one with certolizumab. The median time between TNF antagonist introduction and first symptoms of tuberculosis was 23.4 weeks (2–176). Six of the 12 patients had a positive direct examination and/or positive culture for Mycobacterium tuberculosis. Histological samples of affected organs taken from seven patients showed granulomatous inflammation in six, with caseating necrosis in five. Two of the 12 patients died of disseminated TB.
Conclusion
This study shows tuberculosis in patients treated with TNF antagonists still occurs despite adherence to tuberculosis prevention guidelines. Prophylactic measures do not fully prevent the occurrence of tuberculosis. Rapid initiation of effective anti‐tuberculosis treatment is important even in patients with negative mycobacteriological examination presenting with suggestive symptoms and organ involvement.
Summary
Background
Neoangiogenesis occurs within days following laser treatment of port wine stains (PWS), and plays a central role in treatment failures. Topical use of timolol can significantly ...reduce the production of vascular endothelial growth factor in vitro, and in animal models.
Objectives
The aim of this study was to assess the efficacy of topical timolol in combination with pulsed dye laser (PDL) treatment, compared with PDL alone, for treating PWS.
Methods
This was a prospective multicenter controlled trial performed in children with PWS of the face who had not previously received laser treatment. After randomization, one group was treated with PDL alone, and the other with PDL followed by twice daily applications of timolol gel. Three laser sessions were performed at 1‐month intervals with fixed parameters. The evaluation was performed on standardized pictures by two independent physicians blinded to the treatment received. The primary endpoint was marked or complete improvement of the PWS Investigator Global Assessment (IGA) 3 or 4 1 month after the third session.
Results
Twenty‐two children were included. Two patients were lost to follow‐up. There was no difference in the success rate between the two groups (IGA 3 or 4 observed in one of 10 patients and two of 12 patients, for PDL alone, and for PDL associated with topical timolol, respectively; P = 1·0). No side‐effect related to the application of topical timolol was observed.
Conclusions
The addition of timolol gel for preventing neoangiogenesis failed to significantly improve the efficacy of PDL treatment of PWS.
What's already known about this topic?
Neoangiogenesis occurs within days following laser treatment of port wine stains (PWS).
The expression of vascular endothelial growth factor (VEGF) and its receptors has been shown to be increased in PWS lesions, and to play a key role in neoangiogenesis.
By acting on VEGF, timolol gel might be useful for preventing post‐laser angiogenesis.
What does this study add?
Topical use of twice daily applications of timolol gel showed good tolerance, but failed to significantly improve the efficacy of pulsed dye laser treatment of PWS.
Summary
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.
What's already known about this topic?
Capillary malformations (CMs) might be associated with venous, lymphatic or arteriovenous anomalies or with overgrowth syndrome such as leg length discrepancy (LLD).
Molecular analyses have allowed for better understanding.
What does this study add?
In children with CMs of the lower limbs the frequency of differences in arterial blood flow ≥ 50% between the two limbs was greater with than without LLD.
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