J Pediatr Genet 2017; 06(02): 103-106
DOI: 10.1055/s-0036-1588028
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

Antonio Richieri-Costa
1   Serviço de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil
,
Siulan Vendramini-Pittoli
1   Serviço de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil
,
Nancy Mizue Kokitsu-Nakata
1   Serviço de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil
,
Roseli Maria Zechi-Ceide
1   Serviço de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil
,
Camila Wenceslau Alvarez
1   Serviço de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil
,
Lucilene Arilho Ribeiro-Bicudo
2   Departamento de Genética, Instituto de Ciências Biológicas, Universidade Federal de Goias, Goiania, Goiás, Brazil
› Author Affiliations
Further Information

Publication History

29 January 2016

21 July 2016

Publication Date:
14 September 2016 (online)

Abstract

In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p.Val751Gly) in exon 15 of the PTCH1 gene. Mutations in this gene are associated with the nevoid basal cell carcinoma syndrome (NBCCS, OMIM 109400) and, in other instances, with holoprosencephaly (holoprosencephaly-7, OMIM 610828). Severe eye involvement ranging from orbital coloboma to microphthalmia has been seldom reported in patients with NBCCS with PTCH1 mutations. To our knowledge, this is the first report of an individual with central nervous system, skin, and eye manifestations due to a PTCH1 mutation. Mechanisms involved in these multisystem manifestations are discussed.

 
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