Little information is available on the prevalence and clinical aspects of tongue involvement in children with psoriasis. The aim was to evaluate the prevalence, clinical aspects and risk factors ...concerning tongue involvement in children with psoriasis.
This study was carried out in two stages. We performed a multicentre, cross-sectional study in 23 French dermatology centers. All children seen for psoriasis during the one-year study were systematically included. The clinical features of the tongue and of psoriasis were recorded. Association with clinical aspects of psoriasis and comorbidities was evaluated. We then carried out a literature review to evaluate the prevalence of tongue involvement in children with psoriasis and its positive predictive value for psoriasis. A search was conducted in the PUBMED database using the following keywords: "child" and "psoriasis" and ("tongue" or "glossitis" or "migratory glossitis" or "benign migratory glossitis" or "geographic tongue" or "fissured tongue").
7.7% of the 313 children with psoriasis had tongue involvement. The clinical aspects were geographic tongue (4.2%), fissured tongue (2.8%) and both (0.64%). There was no association between tongue involvement and the clinical characteristics of the children. Two hundred and ninety-five articles were referenced and 3 were analysed. Psoriasis is very rare in cases of tongue abnormalities.
The prevalence of tongue involvement was 7.7% in children with psoriasis. No clinical or epidemiological association was shown. Tongue involvement does not modify the management of psoriasis. In the literature review it was not possible to evaluate either the prevalence of tongue involvement in psoriasis or the positive predictive value thereof.
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.
What's already known about this topic?
Aplasia cutis congenita (ACC) has been associated with all clinical forms of inherited epidermolysis bullosa (EB), including dominant and recessive dystrophic EB (DEB).
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.
What does this study add?
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 triple helix domain interruption domain of the collagen VII leading to thermolabile protein could explain this phenomenon.
This multicenter, randomized trial showed significant benefit of propranolol for the treatment of infantile hemangiomas.
Infantile hemangiomas are the most common soft-tissue tumors of childhood, ...occurring in 3 to 10% of infants.
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Lesions are usually not developed at birth and are generally diagnosed during the first 4 to 6 weeks of life, with most growth during the first 5 months.
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The characteristic evolution of nearly all infantile hemangiomas is proliferation, stabilization, and slow, spontaneous involution. Although most lesions follow an uncomplicated clinical course, approximately 12% result in complications requiring referral to a specialist.
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Many infantile hemangiomas leave permanent sequelae, with potential psychological effects in the children and their parents.
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Historically, systemic glucocorticoids . . .
Three overlapping conditions, namely Rothmund–Thomson (RTS), Baller‐Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical ...presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio‐type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next‐generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.
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.
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.
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.
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.
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.
A decade ago, we identified a novel gene, glomulin (GLMN) in which mutations cause glomuvenous malformations (GVMs). GVMs are bluish-purple cutaneous vascular lesions with characteristic glomus cells ...in the walls of distended venous channels. The discovery of the genetic basis for GVMs allowed the definition of clinical features to distinguish GVMs from other venous anomalies. The variation in phenotype was also highlighted: from a single punctate blue dot to a large plaque-like lesion. In this study, we screened GLMN in a large cohort of patients to broaden the spectrum of mutations, define their frequency and search for possible genotype-phenotype correlations. Taking into account 6 families published by others, a mutation in GLMN has been found in 162 families. This represents 40 different mutations; the most frequent one being present in almost 45% of them. Expressivity varies largely, without a genotype/phenotype relationship. Among 381 individuals with a mutation, we discovered 37 unaffected carriers, implying a penetrance of 90%. As nonpenetrant individuals may transmit the disease to their descendants, knowledge on the mutational status is needed for appropriate genetic counseling.
Background Granuloma annulare (GA) is limited in most cases to isolated lesions, but more widespread generalized forms can be observed. In both cases, the treatment remains highly challenging. ...Isolated case reports suggested the interest of treating GA with a pulsed dye laser (PDL).
Objective To evaluate the PDL in treating GA.
Materials and methods Retrospective multicentre study. Each patient should have at least two lesions of GA including at least one that remained untreated to serve as a control. The evaluation was performed on an Investigator Global Assessment for each lesion as compared with baseline.
Results Thirteen patients (five with localized GA and eight with generalized GA) with a total of 59 lesions have been treated with a maximum of three PDL sessions. Sixteen lesions (27.1%) achieved >50% of clearing (14% of lesions for generalized GA and 56.2% for localized GA). Transient hyperpigmentation and crusting were observed in 59% and 86% of lesions respectively. The median follow‐up was 6 months (2–12) and 10 lesions (all in generalized GA) recurred after initial clearing.
Conclusion Generalized GA showed weak improvement after treatment with a high recurrence rate. Only localized forms showed notable improvement in a more than half of treated lesions. Thus, PDL could be proposed as an alternative approach, but only for localized forms of GA.
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