Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report.

ABSTRACT:

Background

Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively. Both neurofibromin 1 and cartilage oligomeric matrix protein (COMP) play a role in the development of the skeleton. Carrying both germline mutations has not been previously reported; however, it can affect the developing phenotype.

Case presentation

The index patient, an 8-year-old female presented with several skeletal and dermatologic anomalies resembling the coexistence of multiple syndromes. Her mother had dermatologic symptoms characteristic for neurofibromatosis type 1, and her father presented with distinct skeletal anomalies. NGS-based analysis revealed a heterozygous pathogenic mutation in genes

SUBMITTER: Palla S 

PROVIDER: S-EPMC9993747 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature