Infantile systemic hyalinosis: Case report and review of the literature

Department of Dermatology, Division of Genetics, University of California, Irvine, California 92868, USA.
Journal of the American Academy of Dermatology (Impact Factor: 5). 03/2008; 58(2):303-7. DOI: 10.1016/j.jaad.2007.06.008
Source: PubMed

ABSTRACT Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.