Infantile Systemic Hyalinosis with Mutation in ANTXR2

Excerpt

To the Editor: Infantile systemic hyalinosis (OMIM 236490) is a rare autosomal recessive disorder characterized by deposition of hyaline in skin, gingiva, adrenals, skeletal muscles and gastro intestinal tract [1, 2]. It presents in a new born or in early infancy with painful movements, joint contractures, gingival nodules, progressive skin thickening and hyperpigmented patches over bony prominances [3] and is caused by homozygous or compound heterozygous mutations in ANTXR2 on 4q21, which encodes capillary morphogenesis protein 2(CMG2) [4]. Mutation analysis is essential in confirming the diagnosis and offering prenatal diagnosis. We report a case of 2-mo-old boy with a homozygous mutation in ANTXR2. To our knowledge this is the first mutation proven case being reported from North India. …