Restrictive dermopathy-a lethal congenital laminopathy. Case report and review of the literature

• Tipo: Artigo em Revista Científica Internacional
• Data: 2009

Autores

Paulo Morais (Autor) Outra; Sofia Magina (Autor) FMUP; Maria do Ceu Ribeiro (Autor) Outra; Manuela Rodrigues (Autor) Outra; Jose Manuel Lopes (Autor) FMUP; Huong Le Thi Thanh (Autor) Outra; Manfred Wehnert (Autor) Outra; Hercilia Guimaraes (Autor) FMUP

Revista

Título: European Journal of Pediatrics

Vol. 168

Páginas: 1007-1012

ISSN: 0340-6199

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 24 Citações

Scopus - 28 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-003-GZK

DOI: 10.1007/s00431-008-0868-x

Abstract (EN): Restrictive dermopathy (RD) is a rare, fatal, and genetically heterogeneous laminopathy with a predominant autosomal recessive heredity pattern. The phenotype can be caused by mutations in either LMNA (primary laminopathy) or ZMPSTE24 (secondary laminopathy) genes but mostly by homozygous or compound heterozygous ZMPSTE24 mutations. Clinicopathologic findings are unique, allowing a specific diagnosis in most cases. We describe a premature newborn girl of non-consanguineous parents who presented a rigid, translucent and tightly adherent skin, dysmorphic facies, multiple joint contractures and radiological abnormalities. The overall clinical, radiological, histological, and ultrastructural features were typical of restrictive dermopathy. Molecular genetic analysis revealed a homozygous ZMPSTE24 mutation (c.1085_1086insT). Parents and sister were heterozygous asymptomatic carriers. We conclude that RD is a relatively easy and consistent clinical and pathological diagnosis. Despite recent advances in our understanding of RD, the pathogenetic mechanisms of the disease are not entirely clarified. Recognition of RD and molecular genetic diagnosis are important to define the prognosis of an affected child and for recommending genetic counseling to affected families. However, the outcome for a live born patient in the neonatal period is always fatal.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 6