Indian Dermatology Online Journal

CASE REPORT
Year
: 2017  |  Volume : 8  |  Issue : 5  |  Page : 352--354

Autosomal recessive cutis laxa Type II: Report of novel mutation in a child


Rakesh Kumar1, Sheetal Sharda1, Vimlesh Soni1, Kaniyappan Nambiyar2 
1 Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Paediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Correspondence Address:
Rakesh Kumar
Department of Paediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh
India

Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogeneous and molecular analysis should be done to confirm the diagnosis.


How to cite this article:
Kumar R, Sharda S, Soni V, Nambiyar K. Autosomal recessive cutis laxa Type II: Report of novel mutation in a child.Indian Dermatol Online J 2017;8:352-354


How to cite this URL:
Kumar R, Sharda S, Soni V, Nambiyar K. Autosomal recessive cutis laxa Type II: Report of novel mutation in a child. Indian Dermatol Online J [serial online] 2017 [cited 2019 Nov 12 ];8:352-354
Available from: http://www.idoj.in/article.asp?issn=2229-5178;year=2017;volume=8;issue=5;spage=352;epage=354;aulast=Kumar;type=0