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Year : 2022  |  Volume : 23  |  Issue : 2  |  Page : 126-128

Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation

1 Department of Paediatric Dermatology, Institute of Child Health, Kolkata, West Bengal, India
2 Department of Paediatric Dermatology, Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka, India
3 Department of Paediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
4 Department of Pathology, Wizdermpath Lab, Kolkata, West Bengal, India
5 Department of Paediatric Medicine, Institute of Child Health, Wizdermpath Lab, Kolkata, West Bengal, India

Correspondence Address:
Dr. Rashmi Agarwal
Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.ijpd_57_21

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Infantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary morphogenesis protein-2. Herein, we report two cases of ISH with different clinical presentations confirmed by CMG2 gene mutations. Homogenous 79 bp deletion of the entire exon 11 reported in one of the cases has not been reported previously.

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