Abstract
Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X-linked disorder due to mutations in PORCN, with a predominance of females affected. Germline mutations in PORCN are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with Goltz syndrome with low-level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dupA; p.Asn320GlufsX99).
Original language | English (US) |
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Pages (from-to) | 1481-1484 |
Number of pages | 4 |
Journal | International Journal of Dermatology |
Volume | 53 |
Issue number | 12 |
DOIs | |
State | Published - Dec 1 2014 |
Externally published | Yes |
ASJC Scopus subject areas
- Dermatology