Goltz Syndrome, also known as Goltz-Gorlin Syndrome or Focal Dermal Hypoplasia, is characterized by patchy areas of dermal hypoplasia with deposition of subcutaneous fat into the dermis. Additional ectodermal features such as changes in the nail, skin, and hair are usually observed. Hair is often brittle and sparse. In addition, individuals with Goltz Syndrome may have skeletal and eye abnormalities. Typical ophthalmologic findings include colobomas, microophthalmia, and anophthalmia. Skeletal findings often include longitudinal grooving, ectrodactyly, syndactyly, brachydactyly, or oligodactyly. Mental retardation is present in approximately 15 percent of individuals. Some individuals may also have short stature, pointed chin, ear abnormalities, cleft lip and palate, hypodontia, diastasis pubis, kidney abnormalities, and midline abdominal wall defects. As it is an X-linked dominant disorder, approximately 90 percent of people with Goltz Syndrome are female.
Goltz Syndrome is a condition caused by mutations in the PORCN gene at Xp11.23. This gene is part of the WNT pathway, as seen below. PORCN encodes the human homolog of the Drosophila melanogaster gene porcupine. Our investigation has revealed heterozygous and mosaic mutations in females and males, respectively (Wang, et al., 2007). Heterozygous changes were found in approximately 70 to 80 percent of females with confirmed or suspected Goltz Syndrome. Currently, sequence analysis is available for this condition on a clinical basis. Prenatal diagnosis is available when a familial mutation is known.