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R.K. Jobling, I. Lara‐Corrales, M.‐C. Hsiao, A. Shugar, S. Hedges, L. Messiaen, P. Kannu, Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis, British Journal of Dermatology, Volume 176, Issue 4, 1 April 2017, Pages 1077–1078, https://doi.org/10.1111/bjd.14873
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Funding sources: This work was supported through the Children's Tumor Foundation by the Isaac and Sadie Fuchs Genotype–Phenotype study (to L.M.), and internal funds from the Medical Genomics Laboratory, University of Alabama at Birmingham.
Conflicts of interest: none declared.
Dear Editor, Inactivating SPRED1 mutations cause Legius syndrome, an autosomal dominant RASopathy described in 2007.1 Like neurofibromatosis type 1 (NF1), features include café‐au‐lait macules (CALMs) and skin‐fold freckling. Although neurofibromas, optic gliomas, Lisch nodules, tibial pseudarthrosis and nerve‐sheath tumours are not seen in Legius syndrome, other symptoms and signs common to the RASopathies, such as Noonan‐like facial features, pulmonary stenosis, pectus deformity and learning disabilities, are reported.2 3
A 13‐year‐old boy presented to our centre with a large hyperpigmented patch over the right trunk (Fig. 1) The patch was present from birth and grew in proportion to his age. It demonstrated sharp midline demarcation. Within the patch were three CALMs. There were no palpable lumps or nodules within the patch. No other pigmentary findings were present. Segmental NF1 was clinically suspected. His growth parameters were appropriate for his age. He did not have macrocephaly or facial features consistent with a RASopathy. He was developmentally normal. Family history was negative for pigmentary abnormalities, genetic or neurodevelopmental disorders.
