Goltz-Gorlin syndrome. PORCN gene sequencing by Sanger [1 gene]

Focal dermal hypoplasia or Goltz-Gorlin syndrome is a rare disease of inheritance linked to the dominant X chromosome and, therefore, typical of women, being generally lethal in utero for men. The phenotype has atrophy and linear skin pigmentation with fat herniation through dermal defects. Likewise, multiple papillomas may appear on the mucous membranes or the skin and hypoplastic teeth. Other potentially associated anomalies are limb anomalies such as syndactyly, polydactyly, oligodactyly, and camptodactyly. Ocular anomalies (coloboma of the iris and choroid, strabismus, microphthalmia) are also occasionally detected. Some patients suffer from mental retardation.

• Estimated at 1 / 1,000,000. About 300 patients have been reported in the literature.

When this entity is suspected due to the presence of classic clinical signs, an approach directed at the gene of interest would be recommended. An exome-based approach is recommended due to the possibility of expanding the analysis to other genes in case of obtaining a non-informative result.

Service indicated when there is a high clinical suspicion that the patient suffers from this disease.