RESUMO
Conradi-Hünermann-Happle syndrome (CHHS) is a rare genodermatosis resulting from mutations in the EBP (emopamil binding protein) gene. Dermatologic manifestations may include cicatricial alopecia, ichthyosis, follicular atrophoderma, pigmentary abnormalities, and nail dystrophy. In addition to genetic testing and clinical findings, trichoscopic findings may aid in the diagnosis. In this case report, we discuss the trichoscopic findings in a 3-year-old girl with CHHS and how these findings help us understand the pathophysiology of this disease.
Assuntos
Condrodisplasia Punctata , Ictiose , Anormalidades da Pele , Feminino , Humanos , Pré-Escolar , Alopecia/diagnóstico , Alopecia/genética , Mutação , Condrodisplasia Punctata/diagnóstico , Condrodisplasia Punctata/genéticaRESUMO
OBJECTIVE: To assess the prevalence, predictors, and course of bronchiectasis in patients with cartilage-hair hypoplasia. STUDY DESIGN: Patients who had undergone high-resolution computed tomography of the lungs or bronchography were included in the study. Hospital records were coorelated for clinical features, respiratory symptoms, and laboratory variables. Imaging studies were correlated for changes suggestive of bronchiectasis and findings correlated with clinical and immunological measurements. RESULTS: The study included 15 patients (5 male; median height Z-score, -7.7) aged from 2 to 39 years (median, 10 years). Cell-mediated immunity was impaired in 79% of the subjects, and humoral immunity was impaired in 71% of the subjects. 8 patients (52%) had bronchiectasis, diagnosed by means of high-resolution computed tomography (n = 6) or bronchography (n = 2). The findings ranged from localized mild dilatation of the airways to severe bronchiectasis with saccular airway dilatation. Bronchiectasis progressed during follow-up in 2 patients. Patients with bronchiectasis tended to have more severe growth failure and more often had defective humoral immunity than the general cartilage-hair hypoplasia population. CONCLUSION: Patients with cartilage-hair hypoplasia are at risk of the development of bronchiectasis.
Assuntos
Bronquiectasia/epidemiologia , Bronquiectasia/etiologia , Condrodisplasia Punctata/complicações , Condrodisplasia Punctata/diagnóstico , Adolescente , Adulto , Distribuição por Idade , Bronquiectasia/diagnóstico , Broncografia , Broncoscopia , Criança , Pré-Escolar , Condrodisplasia Punctata/genética , Estudos de Coortes , Feminino , Humanos , Incidência , Masculino , Probabilidade , Prognóstico , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Distribuição por Sexo , Estatísticas não Paramétricas , Tomografia Computadorizada por Raios XRESUMO
Se informa un caso de condrodisplasia punctata rizomélica. Esta es una displasia ósea poco frecuente; su diagnóstico es clínico y radiológico. Se trata de una afección de carácter autosómico recesivo, en la que hay alteración de los peroxisomas, caracterizada bioquímicamente por daño en la biosíntesis del plasmalógeno y del catabolismo del fitanato.
Assuntos
Humanos , Masculino , Lactente , Condrodisplasia Punctata/fisiopatologia , Condrodisplasia Punctata/genética , PrognósticoRESUMO
The diseases that involve the proximal femoral epiphysis are an heterogeneous group with similar clinical characteristics, so it is important to establish a differential diagnosis to bring suitable management and genetic counseling. The present study includes 33 patients: eleven with multiple epiphyseal dysplasia (MED), five with spondylo-epiphyseal dysplasia (SED), twelve with unilateral Perthes disease (PD uni) and five with bilateral Perthes disease (PD bi). The clinical study showed that affected relatives and associated clinical manifestations were more frequent in the dysplastic patients. The somatometric profile of the 17 PD patients was within two standard deviations of the average, whereas the dysplastic patients showed short stature. In the radiological study all patients had one or both proximal femoral epiphysis affected. All the dysplastic patients had other irregular or flattened epiphysis, but only half of those with PD showed mild flattening or distal femoral epiphysis. Eight of 29 patients had a delay in bone maturity, and all patients had mild flattened vertebras. We think this study shows the importance of having sufficient clinic and radiologic criteria to establish the differential diagnosis in view of the heterogeneity of these entities.
Assuntos
Condrodisplasia Punctata/complicações , Cabeça do Fêmur , Doença de Legg-Calve-Perthes/complicações , Adolescente , Criança , Condrodisplasia Punctata/diagnóstico por imagem , Condrodisplasia Punctata/genética , Humanos , Doença de Legg-Calve-Perthes/diagnóstico por imagem , Doença de Legg-Calve-Perthes/genética , Linhagem , Fenótipo , RadiografiaRESUMO
Most reported cases of Conradi-Hünermann disease are said to be sporadic. The diagnostic radiographic features present in early life tend to disappear with age. Skeletal deformities may persist but are not adequate for diagnosis. It is critical that the examiner look for nonskeletal manifestations of the disease, particularly eye and skin changes, in parents and relatives before assuming that the proband represents a sporadic case. Some of the sporadic cases may also be accounted for by the existence of environmental phenocopies. The proband's mother in the family described in this paper was recognized as a carrier of the gene only after careful eye and skin examination. This observation was particularly important because she was pregnant at the time. Her 16-week-old fetus is the earliest documented example of the disease. Autosomal dominant mode of inheritance is suggested by the familial cases, but the variability of expression could be the result of either genetic or clinical heterogeneity. Sex-influenced factors may account for the different severity of the disease in the two sexes.