Infantile systemic hyalinosis: a case report with a novel mutation
Oman Medical Journal. 2013; 28 (1): 53-55
en Inglés
| IMEMR
| ID: emr-146732
ABSTRACT
Infantile Systemic Hyalinosis [ISH] [OMIM 236490] is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 [also known as CMG2] gene, which encodes a transmembranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 [c867_945del, p.E289DfsX22]. Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis
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Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Enteropatías Perdedoras de Proteínas
/
Enfermedades Óseas Metabólicas
/
Receptores de Péptidos
/
Contractura
/
Trastornos de los Cromosomas
/
Diarrea
/
Insuficiencia de Crecimiento
/
Genes Recesivos
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Hipertrofia Gingival
/
Mutación
Tipo de estudio:
Informe de Casos
Límite:
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Oman Med. J.
Año:
2013
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