Focal dermal hypoplasia syndrome, is also known as Goltz syndrome, and is not to be confused with the similar-sounding Gorlin-Goltz syndrome.
A rare disorder that follows an X-linked dominant inheritance pattern. More commonly seen in males than females. Worldwide only 200-300 cases have been reported, and the usual case presentation is at birth.
- cutaneous manifestations: hypopigmented/hyperpigmented lesions can occur anywhere on the body
- fatty hernia-like outpouchings of skin, an exclusive feature of the Goltz syndrome
- ulcerations can occur due to absence of dermal layers
- skeletal manifestations: syndactyly, osteopathia striata, multiple bone hypoplasias
- facial asymmetry with ocular manifestations: e.g. coloboma, irregular pupils, aniridia, heterochromia, etc.
- cardiovascular manifestations: anomalous pulmonary venous drainage
- gastrointestinal manifestations: intestinal malrotation, diaphragmatic hernia, omphalocele
- genitourinary manifestations: horseshoe kidney, renal agenesis
Mainly due to a mutation in the PORCN gene located on the X chromosome at locus p11.23.
History and etymology
The disease was first described by American dermatologist Robert William Goltz (1923-2014) 3 in 1962 1.
- 1. Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol. 1962 Dec. 86:708-17.
- 2. Dermatology Therapy. Springer. ISBN:3540008640. Read it at Google Books - Find it at Amazon
- 3. Burgdorf WH, Padilla RS, Hordinsky M. In memoriam: Robert W. Goltz (1923-2014). (2014) Journal of the American Academy of Dermatology. 71 (4): e163-5. doi:10.1016/j.jaad.2014.04.057 - Pubmed