Erschienen in:
25.01.2016 | Scientific Letter
Infantile Systemic Hyalinosis with Mutation in ANTXR2
verfasst von:
Dhanya Lakshmi Narayanan, Shubha R. Phadke
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 11/2016
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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. …
