RESUMO
We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Recently, biallelic pathogenic variants in the RECQL4 gene were detected (c.1048_1049delAG and c.1391-1G>A), confirming a diagnosis of Rothmund-Thomson syndrome (RTS). In the brother of this patient, who had a milder phenotype, a similar diagnosis was made. CONCLUSION: We conclude that COPS syndrome never existed as a separate syndrome entity. Instead, osteoma cutis may be regarded as a novel feature of RTS, whereas mild intellectual disability and lymphoma may be underreported parts of the phenotype. What is new: ⢠Osteoma cutis was not a known feature in Rothmund-Thomson patients. ⢠Intellectual disability may be considered a rare feature in RTS; more study is needed. What is known: ⢠RTS is a well-described syndrome caused by mutations in the RECQL4 gene. ⢠Patients with RTS frequently show chromosomal abnormalities like, e.g. mosaic trisomy 8.
Assuntos
Síndrome de Rothmund-Thomson/diagnóstico , Adulto , Doenças Ósseas Metabólicas/diagnóstico , Osso e Ossos/anormalidades , Calcinose/diagnóstico , Cromossomos Humanos Par 8 , Diagnóstico Tardio , Humanos , Deficiência Intelectual/diagnóstico , Linfoma não Hodgkin/diagnóstico , Masculino , Ossificação Heterotópica/diagnóstico , Osteoporose/diagnóstico , Dermatopatias Genéticas/diagnóstico , Síndrome , TrissomiaRESUMO
There is a need for researchers to have easy reference to the wide spectrum of different types of quality of life (QoL) instruments that can be used in atopic dermatitis (AD). Previous reviews on QoL in AD do not cover the full spectrum of QoL measures used in studies on AD. This study, on behalf of the European Academy of Dermatology and Venereology (EADV) Task Force on QoL, contains information on instruments available for health-related QoL and family QoL assessment in AD including information on validation, experience of QoL assessment in AD for different purposes, peculiarities of QoL assessment in different age groups, expert analysis of available instruments including data on limitations of their use and recommendations of the Task Force.
Assuntos
Dermatite Atópica/psicologia , Qualidade de Vida , Inquéritos e Questionários , Fatores Etários , Humanos , Reprodutibilidade dos Testes , Índice de Gravidade de DoençaRESUMO
BACKGROUND: Oral propranolol is widely prescribed as first-line treatment for infantile haemangiomas (IHs). Anecdotally, prescribing practice differs widely between centres. OBJECTIVES: The Propranolol In the Treatment of Complicated Haemangiomas (PITCH) Taskforce was founded to establish patterns of use of propranolol in IHs. METHODS: Participating centres entered data on all of their patients who had completed treatment with oral propranolol for IHs, using an online data capture tool. RESULTS: The study cohort comprised 1097 children from 39 centres in eight European countries. 76·1% were female and 92·8% had a focal IH, with the remainder showing a segmental, multifocal or indeterminate pattern. The main indications for treatment were periocular location (29·3%), risk of cosmetic disfigurement (21·1%) and ulceration and bleeding (20·6%). In total 69·2% of patients were titrated up to a maintenance regimen, which consisted of 2 mg kg(-1) per day (85·8%) in the majority of cases. 91·4% of patients had an excellent or good response to treatment. Rebound growth occurred in 14·1% upon stopping, of whom 53·9% were restarted and treatment response was recaptured in 91·6% of cases. While there was no significant difference in the treatment response, comparing a daily maintenance dose of < 2 mg kg(-1) vs. 2 mg kg(-1) vs. > 2 mg kg(-1) , the risk of adverse events was significantly higher: odds ratio (OR) 1 vs. adjusted OR 0·70, 95% confidence interval (CI) 0·33-1·50, P = 0·36 vs. OR 2·38, 95% CI 1·04-5·46, P = 0·04, Ptrend < 0·001. CONCLUSIONS: The PITCH survey summarizes the use of oral propranolol across 39 European centres, in a variety of IH phases, and could be used to inform treatment guidelines and the design of an interventional study.
Assuntos
Antineoplásicos/administração & dosagem , Hemangioma/tratamento farmacológico , Propranolol/administração & dosagem , Neoplasias Cutâneas/tratamento farmacológico , Administração Oral , Antineoplásicos/efeitos adversos , Relação Dose-Resposta a Droga , Feminino , Humanos , Lactente , Masculino , Propranolol/efeitos adversos , Resultado do TratamentoRESUMO
BACKGROUND: The pathogenesis of infantile haemangioma (IH) is unknown. Several mechanisms have been proposed, including hypoxia, which triggers upregulation and stabilization of hypoxia-inducible factor (HIF)1α. HIF1α stimulates downstream transcription of target genes that enhance angiogenesis. AIM: To identify possible involvement of hypoxia in the pathogenesis of IH, as hypoxia signalling constitutes a potential therapeutic target. METHODS: IH tissue samples collected during the period 1991-2011 (preserved in paraffin wax) were immunohistochemically analysed for HIF1α and the known HIF1α targets: BCL2/adenovirus E1B kD-interacting protein family member 3 (BNIP3), carbon anhydrase (CA)-IX, glucose transporter (GLUT)-1, phosphorylated protein kinase B (pAKT), phosphorylated S6 protein (pS6) and vascular endothelial growth factor (VEGF). Four observers independently assessed the findings. RESULTS: Of the 10 IH samples, 2 appeared to be in the growth phase. In all samples, GLUT-1, BNIP3, pAKT and VEGF were positive, CA-IX was weakly positive, and HIF1α was negative. pS6 was positive in 9/10 cases and negative in 1/10. CONCLUSIONS: Several factors implicated in hypoxia-induced angiogenesis may be involved in IH development. However, the small sample size and retrospective approach of the study preclude definitive conclusions. Prospective studies are needed to conclusively determine which of the factors involved in the (hypoxia) cascade are required for an IH to grow, and could thus be a possible target of drugs for IH treatment.
Assuntos
Hipóxia Celular/fisiologia , Hemangioma Capilar/fisiopatologia , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Síndromes Neoplásicas Hereditárias/fisiopatologia , Neovascularização Patológica/fisiopatologia , Biomarcadores/metabolismo , Humanos , Imuno-Histoquímica , Neovascularização Patológica/metabolismo , Fator A de Crescimento do Endotélio Vascular/metabolismoRESUMO
Vascular autonomic dysregulation, in the most extreme presentation known as Harlequin phenomenon, is a rare condition. It manifests as a sudden and brief paroxystic change in skin color, resulting in two different colors on the body. It is supposed that this condition occurs due to a vasomotor instability. This again is caused by sympathetic disautonomy, which is a consequence of hypothalamic peripheral vascular tone control immaturity in the newborn. Typically, there is spontaneous regression. We describe two brothers who both had this condition in their first life years. Clinical symptoms included frequent attacks of discoloration of extremities (up to four times per day) accompanied with terrifying crying fits, interpreted by the parents as pain. These patients were treated with propranolol, a nonselective beta-blocker, resulting in improvement of symptoms: only occasional attacks were seen. Beta-blockers act on ß1 -adrenoceptors in the heart, thereby preventing the positive chronotropic and inotropic effects mediated by these receptors. We hypothesize that propranolol, which is very lipophilic and therefore also acts on ß-receptors of the central nervous system, acts on the sympathetic system.
Assuntos
Antagonistas Adrenérgicos beta/uso terapêutico , Doenças do Sistema Nervoso Autônomo/tratamento farmacológico , Transtornos da Pigmentação/tratamento farmacológico , Propranolol/uso terapêutico , Antagonistas Adrenérgicos beta/química , Antagonistas Adrenérgicos beta/farmacologia , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Humanos , Lactente , Masculino , Transtornos da Pigmentação/etiologia , Propranolol/química , Propranolol/farmacologia , Irmãos , Resultado do TratamentoRESUMO
BACKGROUND: There is a paucity of evidence for the use of systemic agents in children with atopic eczema refractory to conventional therapy, resulting in considerable variation in patient management. OBJECTIVES: The European TREatment of severe Atopic eczema in children Taskforce (TREAT) survey was established to collect data on current prescribing practice, to identify factors influencing the use of specific systemic agents, and to inform the design of a clinically relevant intervention study. METHODS: Consultant physician members of the paediatric dermatology societies and interest groups of eight European countries were invited to participate in a web-based survey. The multiple-response format questionnaire collated data on clinical practice in general, as well as detailed information on the use of systemic agents in refractory paediatric atopic eczema. RESULTS: In total, 343/765 members (44·8%) responded to the invitational emails; 89·2% were dermatologists and 71% initiate systemic immunosuppression for children with severe atopic eczema. The first-line drugs of choice were ciclosporin (43·0%), oral corticosteroids (30·7%) and azathioprine (21·7%). Ciclosporin was also the most commonly used second-line medication (33·6%), with methotrexate ranked as most popular third choice (26·2%). Around half of the respondents (53·7%) replied that they routinely test and treat reservoirs of cutaneous infection prior to starting systemic treatment. Across the eight countries, penicillins were the first-line antibiotic of choice (78·3%). CONCLUSIONS: In the absence of a clear evidence base, the European TREAT survey confirms the wide variation in prescribing practice of systemic immunosuppression in refractory paediatric atopic eczema. The results will be used to inform the design of a randomized controlled trial relevant to patient management across Europe.
Assuntos
Dermatite Atópica/tratamento farmacológico , Fármacos Dermatológicos/uso terapêutico , Dermatologia/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Corticosteroides/uso terapêutico , Adulto , Idoso , Antibacterianos/uso terapêutico , Criança , Europa (Continente) , Feminino , Humanos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Infecções Cutâneas Estafilocócicas/diagnóstico , Infecções Cutâneas Estafilocócicas/tratamento farmacológico , Adulto JovemRESUMO
Atopic dermatitis (eczema) is a chronic inflammatory skin disease with onset mainly in early childhood It is commonly the initial clinical manifestation of allergic disease, often preceding the onset of respiratory allergies. Along with asthma and allergic rhinitis, atopic dermatitis is an important manifestation of atopy that is characterized by the formation of allergy antibodies (IgE) to environmental allergens. In the developed countries, the prevalence of atopic dermatitis is approximately 15%, with a steady increase over the past decades. Genetic and environmental factors interact to determine disease susceptibility and expression, and twin studies indicate that the genetic contribution is substantial. To identify susceptibility loci for atopic dermatitis, we ascertained 199 families with at least two affected siblings based on established diagnostic criteria. A genome-wide linkage study revealed highly significant evidence for linkage on chromosome 3q21 (Zall=4.31, P= 8.42 10(-6)). Moreover, this locus provided significant evidence for linkage of allergic sensitization under the assumption of paternal imprinting (hlod=3.71,alpha=44%), further supporting the presence of an atopy gene in this region. Our findings indicate that distinct genetic factors contribute to susceptibility to atopic dermatitis and that the study of this disease opens new avenues to dissect the genetics of atopy.
Assuntos
Cromossomos Humanos Par 3/genética , Dermatite Atópica/genética , Adolescente , Criança , Pré-Escolar , Mapeamento Cromossômico , DNA/genética , Feminino , Ligação Genética , Marcadores Genéticos , Impressão Genômica , Humanos , Masculino , Núcleo FamiliarRESUMO
The existing evidence for treatment of atopic eczema (atopic dermatitis, AE) is evaluated using the national standard Appraisal of Guidelines Research and Evaluation. The consensus process consisted of a nominal group process and a DELPHI procedure. Management of AE must consider the individual symptomatic variability of the disease. Basic therapy is focused on hydrating topical treatment, and avoidance of specific and unspecific provocation factors. Anti-inflammatory treatment based on topical glucocorticosteroids and topical calcineurin inhibitors (TCI) is used for exacerbation management and more recently for proactive therapy in selected cases. Topical corticosteroids remain the mainstay of therapy, but the TCI tacrolimus and pimecrolimus are preferred in certain locations. Systemic immune-suppressive treatment is an option for severe refractory cases. Microbial colonization and superinfection may induce disease exacerbation and can justify additional antimicrobial treatment. Adjuvant therapy includes UV irradiation preferably with UVA1 wavelength or UVB 311 nm. Dietary recommendations should be specific and given only in diagnosed individual food allergy. Allergen-specific immunotherapy to aeroallergens may be useful in selected cases. Stress-induced exacerbations may make psychosomatic counselling recommendable. 'Eczema school' educational programs have been proven to be helpful. Pruritus is targeted with the majority of the recommended therapies, but some patients need additional antipruritic therapies.
Assuntos
Dermatite Atópica/tratamento farmacológico , Fármacos Dermatológicos/uso terapêutico , Guias de Prática Clínica como Assunto , HumanosRESUMO
The existing evidence for treatment of atopic eczema (atopic dermatitis, AE) is evaluated using the national standard Appraisal of Guidelines Research and Evaluation. The consensus process consisted of a nominal group process and a DELPHI procedure. Management of AE must consider the individual symptomatic variability of the disease. Basic therapy is focused on hydrating topical treatment, and avoidance of specific and unspecific provocation factors. Anti-inflammatory treatment based on topical glucocorticosteroids and topical calcineurin inhibitors (TCI) is used for exacerbation management and more recently for proactive therapy in selected cases. Topical corticosteroids remain the mainstay of therapy, but the TCI tacrolimus and pimecrolimus are preferred in certain locations. Systemic immune-suppressive treatment is an option for severe refractory cases. Microbial colonization and superinfection may induce disease exacerbation and can justify additional antimicrobial treatment. Adjuvant therapy includes UV irradiation preferably with UVA1 wavelength or UVB 311 nm. Dietary recommendations should be specific and given only in diagnosed individual food allergy. Allergen-specific immunotherapy to aeroallergens may be useful in selected cases. Stress-induced exacerbations may make psychosomatic counselling recommendable. 'Eczema school' educational programs have been proven to be helpful. Pruritus is targeted with the majority of the recommended therapies, but some patients need additional antipruritic therapies.
Assuntos
Dermatite Atópica/tratamento farmacológico , Fármacos Dermatológicos/uso terapêutico , Guias de Prática Clínica como Assunto , HumanosRESUMO
BACKGROUND: Haemangioma of infancy (HOI) on the face may be disfiguring and alarming for parents. Usually they are not treated when they are small. Treatment of HOI with propranolol is a breakthrough. Timolol (topical treatment) and propranolol are closely related. METHODS: We considered topical treatment with timolol 0.5% ophthalmic solution 3-4 times daily in patients with small HOI. Twenty patients with small mostly superficial HOI were included. RESULTS: A series of 20 patients with HOI treated with timolol 0.5% ophthalmic solution are described. The treatment was effective in all superficial HOIs after 1-4 months. A quick direct inhibitory effect on the growth of the HOI followed by slower regression was observed. The children had to be treated during the whole proliferative phase. Deep HOIs on the nose (2 cases) and lower eyelid (1 case) showed no response. CONCLUSION: Topical timolol 0.5% ophthalmic solution is effective in HOI. Safety and effectiveness of drugs like topical timolol and topical propranolol require further investigation but they seem very safe when used in small HOIs. We recommend that small superficial HOIs should be treated in an early proliferative phase.
Assuntos
Hemangioma/tratamento farmacológico , Soluções Oftálmicas/uso terapêutico , Timolol/uso terapêutico , Administração Tópica , Feminino , Humanos , Lactente , MasculinoRESUMO
BACKGROUND: Haemangioma of infancy (HOI) is the most frequently occurring benign tumour of infancy. A good, reliable and objective scoring system for haemangioma activity is not yet available. AIM: We have developed a simple system called the Haemangioma Activity Score (HAS) for scoring the (disease) proliferative activity of haemangiomas. The current study was undertaken to validate this system. METHODS: We validated the HAS in a comparative study of photographs taken during consultations from 2000 until 2008 (n = 78). Agreement between three observers was assessed at two different time points (t(0) and t(1)) with a minimum interval of 6 months between them, using interclass correlation coefficients (ICC). RESULTS: Agreement between observers was good. The average ICC of the HAS at t(0) and t(1) was 0.72 and 0.76, respectively. The average ICC of the HAS for the changes from baseline (HAS at t(0) minus HAS at t(1) ) was 0.69. CONCLUSIONS: We conclude that the HAS is a good system for scoring the proliferative activity of haemangiomas, and believe it to be useful in future investigations. The number of studies comparing different therapies for treating haemangiomas is steadily increasing, and the HAS (before and after treatment) may provide a valuable scoring system for evaluating such therapies.
Assuntos
Hemangioma/patologia , Progressão da Doença , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Variações Dependentes do Observador , Projetos Piloto , Reprodutibilidade dos Testes , Índice de Gravidade de DoençaRESUMO
Urticaria in childhood is a common problem. History of development of urticaria should be carefully taken from a written history/information list. For urticaria, the EAACI/GALEN/EDF consensus guidelines on definition, classification, diagnosis and management of urticaria should be considered. Soon an updated version of a new consensus will appear. The new classification of urticaria includes 3 main groups: spontaneous or idiopathic urticaria (divided in acute <6 weeks and chronic urticaria ≥6 weeks), physical urticaria (cold contact urticaria, delayed pressure urticaria) and other urticaria disorders such as aquagenic urticaria. In general aspects, there is no difference between children and adults, except some details. In children most urticaria are acute idiopathic or physical of character. Also, urticarial flares in atopic dermatitis in young children are common as manifestation of food allergy First step of treatment is directed to the cause (that is difficult in chronic urticaria) and triggering factors. The currently recommended first line treatment is application of oral nonsedating H1 antihistamines. If needed, the dosage of antihistamines should be up to two-fold (in adults four-fold), although evidence is lacking for this, whereas alternative treatment should be reserved as add-on therapy for unresponsive patients.
Assuntos
Angioedema , Urticária , Angioedema/diagnóstico , Angioedema/tratamento farmacológico , Criança , Antagonistas dos Receptores Histamínicos/uso terapêutico , Humanos , Guias de Prática Clínica como Assunto , Urticária/diagnóstico , Urticária/tratamento farmacológicoRESUMO
Progressive symmetric erythrokeratoderma of Gottron (PSEK) is commonly distinguished from erythrokeratodermia variabilis Mendes da Costa (EKV). However, conclusive proof that the disorders are identical is still lacking. We performed mutation analysis and microsatellite haplotyping in two independently referred patients with PSEK and three patients from a previously published family with EKV. All patients had the same mutation in the GJB4 gene causing the amino acid substitution p.Gly12Asp (G12D). Haplotype analysis showed that all five patients had the same allelic haplotype over 2 Mb covering the disease locus. Apparently, the same GJB4 mutation may cause either an EKV or a PSEK phenotype. A single ancestral founder might have introduced EKV in the Netherlands.
Assuntos
Conexinas/genética , Mutação de Sentido Incorreto , Dermatopatias Genéticas/genética , Dermatopatias Genéticas/patologia , Adolescente , Adulto , Substituição de Aminoácidos , Sequência de Bases , Criança , Análise Mutacional de DNA , Primers do DNA/genética , Feminino , Heterozigoto , Humanos , Masculino , Países BaixosRESUMO
BACKGROUND: Wet-wrap treatment (WWT) with diluted topical steroids is widely used in atopic dermatitis (AD). Mice with transgenic overexpression of human apolipoprotein C1 (APOC1) in the liver and the skin are not only characterized by hyperlipidaemia and raised IgE levels, but also by pruritic dermatitis and a disturbed skin barrier function, providing a novel in vivo mouse model for AD. OBJECTIVES: We investigated an adapted WWT method in the AD model in APOC1 mice in order to establish its efficacy. METHODS: The effect of topical 0.1% and 0.03% tacrolimus ointment, tacrolimus base ointment, different dilutions of 0.05% fluticasone propionate (FP) cream and emollient on the development of dermatitis in APOC1 mice was investigated. WWT was performed with 0.03% tacrolimus ointment or 0.017% FP cream. RESULTS: AD in APOC1 mice responded to topical treatment with tacrolimus or FP. In contrast to tacrolimus treatment, FP treatment was associated with loss of body weight. WWT reinforced several therapeutic aspects, notably improvements in transepidermal water loss and in epidermal thickness. WWT using tacrolimus 0.03% ointment was more effective than WWT using FP 0.017% cream. CONCLUSIONS: AD in APOC1 mice responds to treatment with (diluted) tacrolimus or FP; treatment with FP cream, but not tacrolimus ointment, was associated with weight loss. In this study, the adapted WWT using tacrolimus or FP in mice had a limited improving effect as compared with open application of tacrolimus or FP.
Assuntos
Androstadienos/administração & dosagem , Apolipoproteína C-I/efeitos dos fármacos , Dermatite Atópica/tratamento farmacológico , Emolientes/administração & dosagem , Tacrolimo/administração & dosagem , Animais , Bandagens , Dermatite Atópica/patologia , Progressão da Doença , Relação Dose-Resposta a Droga , Fluticasona , Humanos , Camundongos , Camundongos Transgênicos , Modelos Animais , PomadasRESUMO
In recent years, the atopy patch test (APT) has been suggested as an addition in the allergological work-up of children with atopic dermatitis (AD) and suspected food allergy. We initiated a prospective clinical study in children with AD younger than 3 yr, to evaluate the additional clinical value of the APT next to our own standardized allergological work-up in case of a suspected food allergy. One hundred and thirty-five children were included in the study. They were tested using the skin application food test (SAFT), the APT and measurement of specific IgE. The allergens used in the skin tests were freshly prepared food stuffs and included commercially available cow's milk (CM), the egg white of a hard boiled hen's egg and mashed peanuts in a saline solution. Allergy was defined using a flowchart incorporating the results from the SAFT, oral challenges (OCs) and elimination and (re)introduction periods. To determine the additional value of the APT next to the SAFT, we analyzed the SAFT negative patients per allergen and used an exact binary logistic analysis to evaluate the simultaneous effects of the APT and measurement of specific IgE, calculating mutually adjusted odds ratios (ORs) for positive APTs and specific IgE levels above 0.70 U/l. We found clinically relevant food allergies in 23% (egg white) to 28% (CM and peanut) of our study population. Positive SAFT reactions were observed in 14% (peanut), 16% (egg white) and 21% (CM) of our patient population. Next to the SAFT, we did not observe a significant additional value of the APT for the diagnosis of CM or egg white allergy, but we did find a significant additional value for the diagnosis of peanut allergy (OR = 11.56; p < 0.005, 2-sided). In clinical practice this statistically significant value does not exclude the need for OC and controlled elimination and (re)introduction periods due to the presence of false-negative as well as false-positive results in the APT. In conclusion, we could not find enough support for the current addition of the APT to our standardized allergological work-up in young children below the age of 3 yr with AD and suspected food allergy. At the moment the additional value of the classical delayed-type APT next to the SAFT seems to be very limited at best in this study population and does not justify the time-consuming nature of the skin test.
Assuntos
Alérgenos/imunologia , Dermatite Atópica/diagnóstico , Hipersensibilidade Alimentar/diagnóstico , Testes do Emplastro/normas , Animais , Arachis/imunologia , Pré-Escolar , Dermatite Atópica/imunologia , Proteínas do Ovo/imunologia , Reações Falso-Positivas , Hipersensibilidade Alimentar/imunologia , Humanos , Hipersensibilidade Tardia/diagnóstico , Hipersensibilidade Tardia/imunologia , Hipersensibilidade Imediata/diagnóstico , Hipersensibilidade Imediata/imunologia , Imunoglobulina E/sangue , Lactente , Recém-Nascido , Leite/imunologia , Estudos ProspectivosRESUMO
BACKGROUND: Skin lesions are the predominant clinical feature of the commonest form of mastocytosis. Mastocytosis is classified according to World Health Organization criteria. Determination of the levels of mast-cell mediators or their metabolites reflects the mast-cell burden. The extent of cutaneous mastocytosis can be assessed clinically using a scoring system (SCORing MAstocytosis; SCORMA Index) that we have developed. OBJECTIVE: Serum tryptase levels were compared with the SCORMA Index in a large group of paediatric and adult patients to investigate whether there was any correlation between the two. METHODS: The SCORMA Index in 64 patients (31 children and 33 adults) was compared with serum tryptase levels. The results of the first visit at which SCORMA and tryptase were evaluated were analysed. RESULTS: There was a positive correlation between the SCORMA Index and serum tryptase levels, indicating the value of the SCORMA Index in the assessment of mastocytosis with skin involvement. CONCLUSION: The results of this study showed that the SCORMA Index is a useful tool for evaluating the severity of cutaneous mastocytosis. The correlation between the SCORMA Index and serum tryptase levels underlines the benefit of the SCORMA Index as a clinical tool. Repeated SCORMA Index measurements can provide a rapid impression of changes in the clinical state of mastocytosis. This is particularly relevant in children, because taking blood samples from this group is much more difficult. The well-established methods for evaluation of disease severity may be expanded by the rapid SCORMA Index method.
Assuntos
Mastocitose Cutânea/enzimologia , Mastocitose Cutânea/patologia , Triptases/sangue , Urticaria Pigmentosa/patologia , Adolescente , Adulto , Idade de Início , Idoso , Biomarcadores/sangue , Criança , Pré-Escolar , Progressão da Doença , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mastócitos/enzimologia , Mastócitos/patologia , Mastocitose Cutânea/genética , Pessoa de Meia-Idade , Prognóstico , Índice de Gravidade de Doença , Urticaria Pigmentosa/enzimologia , Urticaria Pigmentosa/genética , Adulto JovemRESUMO
BACKGROUND: Studies of Australian infants have reported that more than 80% of those with moderate atopic eczema (AE) have high levels of IgE food sensitization (IgE-FS) that are commonly associated with IgE food allergy. OBJECTIVES: To explore the relationship between high levels of IgE-FS and AE in a large cohort of young children with eczema participating in a multi-centre, international study. METHODS: Two thousand one hundred and eighty-four subjects (mean age 17.6 months, range 11.8-25.4; 1246 males) with active eczema from atopic families from 94 centres in 12 countries were studied. Clinical history, Scoring Atopic Dermatitis index as a measure of eczema severity and CAP-FEIA measurements for total IgE and IgE antibody levels to cow milk, egg and peanut were entered into a database. If CAP-FEIA levels exceeded previously reported age-specific cut-off levels for 95% positive predictive values (PPVs) for food allergy, subjects were defined as having high-risk IgE-FS (HR-IgE-FS). RESULTS: Serum was available from 2048 patients; 55.5% were atopic. The frequency of HR-IgE-FS to milk, egg and/or peanut was the greatest in patients whose eczema developed in the first 3 months of life and the least in those whose eczema developed after 12 months (P<0.0001). In a regression analysis to allow for potential confounding factors, children with HR-IgE-FS had the most severe eczema and the youngest age of onset (P<0.001); 64% of infants with severe eczema of onset-age <3 months had HR-IgE-FS. CONCLUSION: Early-onset severe eczema in infancy was associated with HR-IgE-FS. Clinical implications Food allergies should be routinely assessed in infants with moderate or severe eczema. Capsule summary In eczematous infants, the earlier the age of onset, and the greater the severity of eczema, the greater the frequency of associated high levels of IgE-FS.
Assuntos
Eczema/imunologia , Hipersensibilidade Alimentar/imunologia , Imunoglobulina E/imunologia , Pré-Escolar , Eczema/epidemiologia , Eczema/patologia , Feminino , Hipersensibilidade Alimentar/epidemiologia , Hipersensibilidade Alimentar/patologia , Humanos , Lactente , MasculinoRESUMO
An 8-year-old boy was presented with painful blue ears due to infection with Mycoplasma pneumoniae. The changes disappeared spontaneously.