RESUMO
INTRODUCTION AND OBJECTIVE: In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. METHODS: This was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC. RESULTS: Fifty-seven patients with EB were found, 19 with EB simplex, 10 with junctional EB, 27 with dystrophic EB (14 dominant dystrophic and 13 recessive dystrophic), and just 1 with Kindler syndrome. DC was detected in only 2 patients with recessive dystrophic EB. Twenty-three patients had presented factors that could have had a causal relationship with the potential onset of DC. CONCLUSION: DC is a possible complication of EB, particularly in recessive dystrophic EB. Periodic follow-up should be performed to make an early diagnosis and start treatment.
Assuntos
Cardiomiopatias/etiologia , Epidermólise Bolhosa/complicações , Adolescente , Anemia/complicações , Cardiomiopatias/diagnóstico por imagem , Cardiomiopatias/epidemiologia , Causalidade , Criança , Pré-Escolar , Estudos Transversais , Diagnóstico Precoce , Epidermólise Bolhosa/classificação , Epidermólise Bolhosa/genética , Epidermólise Bolhosa Distrófica/complicações , Epidermólise Bolhosa Distrófica/genética , Feminino , Humanos , Masculino , Prevalência , Prognóstico , Fatores de Risco , Viroses/complicaçõesRESUMO
BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. There are very few accurate descriptions related to this syndrome in the literature. OBJECTIVE: Describe the features of 11 patients with NPS in a paediatric hospital. METHODS: We retrospectively reviewed our clinical database of 11 patients with proven diagnosis of NPS from 1977 to 2014. Clinical and radiological features were assessed. RESULTS: Eleven children (seven male/four female) were included in the study. Mean age at the time of diagnosis was 6.54 years (range 0-11 years). Five patients had a family history of NPS. All patients had nail abnormalities (100%), the most frequent finding being hyponychia. Triangular lunulae were observed in four patients. The knee was the most commonly affected joint, aplasia or hypoplasia of the patella being the most usual findings. Only one patient presented renal involvement. The genetic study revealed three different LMX1B mutations. CONCLUSION: Nail-patella syndrome is a rare disorder. The aim of the present study is to highlight the importance of nail examination in children with skeletal dysplasias, in order to diagnose the NPS.
Assuntos
Síndrome da Unha-Patela/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Síndrome da Unha-Patela/genética , Síndrome da Unha-Patela/patologia , Estudos RetrospectivosRESUMO
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.
Assuntos
Craniossinostoses/diagnóstico , Craniossinostoses/genética , Genótipo , Rádio (Anatomia)/anormalidades , RecQ Helicases/genética , Adolescente , Adulto , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Consanguinidade , Fácies , Feminino , Humanos , Lactente , Masculino , Mutação , Fenótipo , Adulto JovemRESUMO
Two patients are reported in whom early-onset, distal papules with a histopathological diagnosis of basal cell carcinoma were the first manifestation of Gorlin syndrome (GS). These lesions showed no progression and remained stable through follow-up. Two different PTCH1 gene mutations were detected in the two patients, and thus a phenotype-genotype correlation of this manifestation of GS was not possible.
Assuntos
Síndrome do Nevo Basocelular/patologia , Carcinoma Basocelular/patologia , Neoplasias Cutâneas/patologia , Idade de Início , Síndrome do Nevo Basocelular/genética , Carcinoma Basocelular/genética , Criança , Pré-Escolar , Mãos , Humanos , Masculino , Mutação/genética , Receptores Patched , Receptor Patched-1 , Receptores de Superfície Celular/genética , Neoplasias Cutâneas/genética , Dedos do PéRESUMO
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no data on the prevalence of DEB in Spain. OBJECTIVE: To determine the prevalence of DEB in Spain. METHODS: We used data from 3 incomplete population-based sources (hospital dermatology departments, diagnostic laboratories performing antigenic mapping, genetic testing or both, and the Spanish Association of Epidermolysis Bullosa Patients [DEBRA]) and combined them using the 3-source capture-recapture methodology. RESULTS: We identified 152 living DEB patients. The estimated prevalence of DEB was 6.0 cases per million (95% CI, 4.2-11.8) in adults and 15.3 (95% CI, 10.4-40.8) in children under 18 years of age. The data indicated that 77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA. CONCLUSIONS: The prevalence of DEB in Spain is 6.0 patients per million (95% CI, 4.2-11.8), a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries. The north-south difference may represent real geographic differences in prevalence, but it might be due to the fact that most of the data come from registries with a lower than expected catchment. Many patients are not being followed up in centers of reference, do not have genetic diagnosis, and are not members of patients' associations, suggesting that there is room for considerable improvement in their care.
Assuntos
Epidermólise Bolhosa Distrófica/epidemiologia , Epidermólise Bolhosa Distrófica/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos Transversais , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Humanos , Lactente , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Melhoria de Qualidade , Espanha/epidemiologia , Adulto JovemRESUMO
Neonatal lupus erythematosus (NLE) is an uncommon condition usually associated with maternal anti-Ro autoantibodies. The cutaneous lesions of NLE are usually transient, disappearing about six months after birth, but telangiectasia is a rare complication of NLE which persists. Telangiectasias are small focal red macules and papules created by abnormally prominent capillaries, venules, and arterioles and are a characteristic marker of connective tissue diseases. We report the case of an infant diagnosed with NLE presenting typical annular lesions, positive ANA and positive anti-Ro antibodies. By five months of age, both ANA and anti-Ro antibodies were negative and the annular cutaneous lesions had gradually faded, but small scattered focal red macules appeared on the face, especially in the peri-orbital area and scalp. The cutaneous lupus disappeared but the telangiectasia persisted. We would like to suggest that the diagnosis of NLE should be considered when cutaneous telangiectasias are observed in infants.
Assuntos
Anticorpos Antinucleares/imunologia , Lúpus Eritematoso Sistêmico/congênito , Telangiectasia/etiologia , Face , Feminino , Humanos , Lactente , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/imunologiaAssuntos
Líquen Plano/diagnóstico , Pele/patologia , Adolescente , Biópsia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Adulto JovemAssuntos
Ictiose Lamelar/terapia , Alopecia/prevenção & controle , Terapia Genética/métodos , Prioridades em Saúde , Humanos , Recém-Nascido , Relações Interprofissionais , Ceratolíticos/uso terapêutico , Assistência Perinatal/organização & administração , Prurido/etiologia , Qualidade de Vida , Retinoides/efeitos adversosRESUMO
BACKGROUND: Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a congenital hamartoma that has rarely been documented. OBJECTIVES: To describe the clinical and histological features of 10 patients with PEODDN. METHODS: A retrospective study of 10 patients with PEODDN attended in our paediatric hospital between 1999 and 2009 was performed. The clinical and histopathological features were reviewed. RESULTS: Nine children and one adult were included in the study. In 6 cases the lesion was present at birth and they were unique in 5 cases and systematized in the other 5 cases. Two cases in the same family are reported. The lesions were most commonly found on the extremities, although the palms or soles were involved in 9 cases and only in one case there was not affection of this area. The lesions were mostly asymptomatic but there was moderate itching in two cases. Clinical examination revealed no extracutaneous involvement. CONCLUSIONS: PEODDN is a rare disorder that usually appears at birth or early childhood. It has a linear distribution following the Blaschko lines. To our knowledge this is the largest series reported in English literature and we also describe the first family case.
Assuntos
Glândulas Écrinas/patologia , Nevo/patologia , Dermatopatias/patologia , Adolescente , Adulto , Pré-Escolar , Feminino , Humanos , Lactente , MasculinoRESUMO
BACKGROUND: Neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports and a few published series. OBJECTIVE: To examine the clinical and serological spectrum, and course of the disease in neonates with NLE and cutaneous involvement. METHODS: A retrospective study was performed that included all children with NLE that came to the Dermatology Department between 1995 and 2006. RESULTS: Eight children with a diagnosis of NLE with cutaneous involvement were identified, with a male:female ratio of 3:1. Anti-Ro antibodies were found in all cases and no cases with anti-RNP antibodies were found. Facial lesions were observed in all cases and in 7 cases the skin eruptions cleared within 4.3 months; the remaining patient was still in follow up when the data were collected. The clinical course of patients who were followed up was satisfactory. CONCLUSIONS: In our series, NLE was three times more frequent in males. Involvement of sun-exposed areas, such as the face with annular lesions was the most common finding. We found one case of NLE with cutaneous involvement and persistent ductus arteriosus. Anti-Ro antibodies were found in all cases and skin eruptions cleared by 7 months of age, concurrent with the waning of the maternally derived antibodies. Four of the mothers were asymptomatic and unaware of their condition, emphasizing the importance of following up these patients due to the possibility of developing an autoimmune disease.
Assuntos
Lúpus Eritematoso Cutâneo/diagnóstico , Feminino , Humanos , Lactente , MasculinoRESUMO
Skin manifestations have been described in 10-15% of patients with inflammatory bowel disease (Crohn's disease, ulcerative colitis, indeterminate colitis/inflammatory bowel disease type unclassified). There are limited data on the prevalence of these manifestations in paediatric patients, but recent studies have reported its presence in 8% of them at diagnosis. Our aim is to report the different skin manifestations observed in our paediatric patients with inflammatory bowel disease. Case 1: Erythema nodosum at Crohn's disease diagnosis. Typical presentation with painful erythematous nodules in the pretibial region and with good response to infliximab. Case 2: Coexistence of pyoderma gangrenosum and mucocutaneous Sweet's syndrome in a Crohn's disease patient. A rapidly progressive disease that was controlled with systemic steroids but with significant residual lesions. Case 3 and 4: Metastatic Crohn's disease with good response to infliximab.
Assuntos
Doenças Inflamatórias Intestinais/complicações , Dermatopatias/etiologia , Adolescente , Criança , Feminino , Humanos , Masculino , Dermatopatias/patologiaRESUMO
Linear IgA bullous dermatosis is an acquired subepidermal immunoglobulin-mediated vesiculobullous disease. In this retrospective, observational, descriptive study, we describe the clinical characteristics, treatments, and outcomes of 17 patients with linear IgA bullous dermatosis. Two children had been vaccinated 2 weeks before the onset of symptoms, 2 had had bronco-obstructive respiratory symptoms, and 1 had received intravenous antibiotic therapy. We also observed an association with autoimmune hepatitis in one patient and alopecia areata in another. One boy had VACTERL association. Diagnosis was confirmed by histopathology and direct immunofluorescence. Sixteen patients were treated with dapsone, which was combined with oral corticosteroids in 8 cases and topical corticosteroids in two. Of note in this series was the occurrence of relapses in the perioral area coinciding with infections and vaccination, and the association between linear IgA bullous dermatosis and autoimmune hepatitis and VACTERL association.
Assuntos
Dermatose Linear Bolhosa por IgA , Corticosteroides/uso terapêutico , Criança , Pré-Escolar , Dapsona/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Feminino , Técnica Direta de Fluorescência para Anticorpo , Humanos , Lactente , Dermatose Linear Bolhosa por IgA/diagnóstico , Dermatose Linear Bolhosa por IgA/tratamento farmacológico , Dermatose Linear Bolhosa por IgA/etiologia , Dermatose Linear Bolhosa por IgA/patologia , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Long-term treatment for atopic dermatitis (AD) using low-dose, intermittent, topical anti-inflammatory agents may control acute disease and prevent exacerbations. OBJECTIVES: This 12-month, European, multicentre, randomized study investigated if proactive, twice-weekly application of 0.03% tacrolimus ointment can keep AD in remission and reduce the incidence of disease exacerbation (DE) in children. PATIENTS AND METHODS: During the initial open-label period, 267 children with AD applied 0.03% tacrolimus ointment twice daily for up to 6 weeks to all affected areas. When an Investigator Global Assessment (IGA) score of Assuntos
Dermatite Atópica/tratamento farmacológico
, Imunossupressores/uso terapêutico
, Tacrolimo/uso terapêutico
, Adolescente
, Criança
, Pré-Escolar
, Emolientes/uso terapêutico
, Feminino
, Humanos
, Imunossupressores/administração & dosagem
, Imunossupressores/efeitos adversos
, Masculino
, Tacrolimo/administração & dosagem
, Tacrolimo/efeitos adversos
, Resultado do Tratamento
Assuntos
Molusco Contagioso/congênito , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Molusco Contagioso/patologiaRESUMO
Second trimester amniocentesis is widely used for the prenatal diagnosis of congenital disorders. Direct fetal injury from needle puncture can cause cutaneous scarring and rarely leads to severe visceral complications. Before the advent of real-time ultrasonography, the incidence of cutaneous lesions after amniocentesis ranged from 0.1 % to 9 % in the different series. Few reports of cutaneous lesions after amniocentesis have been published since the advent of real-time ultrasonography, although the real incidence is unknown. Eight children with typical skin dimpling caused by needle puncture during second trimester amniocentesis are presented. Current amniocentesis has not completely eliminated the risk of needle puncture scarring of the fetus. Dermatologists, pediatricians and obstetricians should be aware of this complication, which may have medical and legal consequences.