Assuntos
Pavilhão Auricular , Leucemia , Neoplasias Cutâneas , Humanos , Infiltração Leucêmica , PeleAssuntos
Pavilhão Auricular , Leucemia , Neoplasias Cutâneas , Humanos , Infiltração Leucêmica , PeleAssuntos
Carcinoma de Células em Anel de Sinete/secundário , Neoplasias do Colo/patologia , Nódulo da Irmã Maria José/secundário , Umbigo/patologia , Doenças Assintomáticas , Biópsia , Carcinoma de Células em Anel de Sinete/diagnóstico por imagem , Neoplasias do Colo/diagnóstico por imagem , Colonoscopia , Humanos , Masculino , Pessoa de Meia-Idade , Nódulo da Irmã Maria José/patologia , Tomografia Computadorizada por Raios XAssuntos
Fibrose Cística/diagnóstico , Kwashiorkor/diagnóstico , Dermatopatias/patologia , Fibrose Cística/complicações , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Exantema/patologia , Feminino , Doenças do Cabelo/patologia , Humanos , Lactente , Kwashiorkor/complicações , Desnutrição/complicações , Dermatopatias/etiologiaRESUMO
Aicardi-Goutières syndrome type 6 (AGS6) and dyschromatosis symmetrica hereditaria (DSH) are allelic disorders caused respectively by biallelic and heterozygous pathogenic variants in ADAR1. We report three unrelated children presenting with features of both AGS6 and DSH, two of whom had compound heterozygous pathogenic variants in ADAR1. We also describe the novel genetic variants in our cases and review the literature on association of ADAR1-related AGS6 and DSH with these phenotypes.
Assuntos
Adenosina Desaminase/genética , Doenças Autoimunes do Sistema Nervoso/genética , Heterozigoto , Mutação , Malformações do Sistema Nervoso/genética , Transtornos da Pigmentação/congênito , Proteínas de Ligação a RNA/genética , Doenças Autoimunes do Sistema Nervoso/complicações , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Pré-Escolar , Humanos , Índia , Lactente , Imageamento por Ressonância Magnética , Malformações do Sistema Nervoso/complicações , Fenótipo , Transtornos da Pigmentação/complicações , Transtornos da Pigmentação/genéticaRESUMO
BACKGROUND: Aplasia cutis congenita (ACC) is a rare, congenital disorder characterized by localized or widespread absence of skin at birth with heterogeneous clinical presentation. The classification proposed by Frieden in 1986 is widely used. AIM: To establish whether, 34 years on, the Frieden classification still meets the needs of dermatologists. METHODS: We conducted a retrospective chart review of all patients with a diagnosis of ACC presenting over a 25-year period to a tertiary paediatric dermatology department. We compiled demographic data, clinical characteristics (e.g. number, location and morphology of the lesions), imaging and genetic results where available, and other associated abnormalities, and grouped them according to the Frieden classification. For Type 6 ACC (Bart syndrome) we reviewed neonatal photographs of all babies born with epidermolysis bullosa (EB) over 5 years. RESULTS: Excluding Type 6, there were 56 children with ACC. The scalp was involved in 82.1%, and Type 1 was the commonest type. Over 5 years, 13 of 108 neonates (12%) with EB were born with the appearance of Type 6 ACC. Two children did not fit Frieden's original classification and one had a previously undescribed association of ACC with cleft lip/palate-ectodermal dysplasia 1 syndrome. CONCLUSION: We conclude that the Frieden classification remains valid with some modifications. Type 3 ACC probably represents a mosaic RASopathy syndrome, while Type 7 could cover nongenetic ACC attributable to trauma. Type 8 should be subdivided into two subgroups: teratogenic and infective. Type 9 covers at least four subgroups. The classification will continue to evolve as new genes and pathomechanisms emerge.
Assuntos
Anormalidades Múltiplas/patologia , Fissura Palatina/patologia , Dermatologia/estatística & dados numéricos , Displasia Ectodérmica/patologia , Epidermólise Bolhosa/patologia , Perda Auditiva Neurossensorial/patologia , Deficiência Intelectual/patologia , Ceratodermia Palmar e Plantar/patologia , Couro Cabeludo/patologia , Sindactilia/patologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Criança , Pré-Escolar , Fissura Palatina/diagnóstico , Displasia Ectodérmica/classificação , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Epidermólise Bolhosa/diagnóstico , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/diagnóstico , Ceratodermia Palmar e Plantar/diagnóstico , Masculino , Estudos Retrospectivos , Sindactilia/diagnóstico , Centros de Atenção TerciáriaRESUMO
Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia characterized by short-stature, sparse hair and impaired cellular immunity. We describe a young girl who was diagnosed with CHH based on the findings of recurrent infections, short stature with metaphyseal chondrodysplasia, and a confirmed bi-allelic RMRP gene mutation. At 13 years, the patient developed an Epstein-Barr virus (EBV)-driven lymphoproliferative disorder involving the lung, which responded partially to chemotherapy. Simultaneously, she developed multiple indurated plaques involving her face, which had histological findings of granulomatous inflammation and EBV-associated low-grade lymphomatoid granulomatosis. The patient received a matched unrelated peripheral blood stem cell transplant at 15 years of age, and her immunological parameters and skin lesions improved. Lymphomatoid forms of granulomatosis and cutaneous EBV-associated malignancies have not been described previously in CHH. This case highlights the possibility of EBV-associated cutaneous malignancy in CHH.