Abstract
Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2 + 1G > A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.
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References
Goltz RW, Peterson Jr WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Derm. 1962;86:708–17.
Temple IK, Mac Dowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet. 1990;27:180–7.
Goltz RW, Henderson RR, Hitch JM, Ott JE. Focal dermal hypoplasia syndrome: a review of the literature and report of two cases. Arch Derm. 1970;101:1–11.
Buchner SA, Itin P. Focal dermal hypoplasia syndrome in a male patient: report of a case and histologic and immunohistochemical studies. Arch Derm. 1998;128:1078–82.
Harmsen MB, Azzarello-Burri S, García González MM, et al. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet. 2009;17:1207–15.
Thomas JV, Yoshizumi MO, Beyer CK, Craft JL, Albert DM. Ocular manifestations of focal dermal hypoplasia syndrome. Arch Ophthalmol. 1977;95:1997–2001.
Maas SM, Lombardi MP, van Essen AJ, et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet. 2009;46:716–20.
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Kapoor, S., Ghosh, V., McGrath, J.A. et al. Novel Mutation in a Child with Goltz Syndrome. Indian J Pediatr 79, 120–123 (2012). https://doi.org/10.1007/s12098-011-0513-y
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DOI: https://doi.org/10.1007/s12098-011-0513-y