Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

Abstract

Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.

Keywords

• Blaschko lines
• ectrodactyly
• mosaicism