Focal dermal hypoplasia syndrome
Focal dermal hypoplasia syndrome is also known as Goltz syndrome, and is named confusingly similar to Gorlin-Goltz syndrome.
A rare disorder that follows X-linked dominant inheritance pattern. More commonly seen in males than female. Worldwide only 200-300 cases have been reported. Patients usually present at birth.
- cutaneous manifestations: hypopigmented or hyperpigmentated 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: syndyctaly, osteopathia striata, multiple bone hypoplasias
- facial asymmetry with ocular manifestations like coloboma, irregular pupils, aniridia, heterochromia, etc
- cardiovascular manifestations: anamolous pulmonary venous drainage
- gastrointestinal manifestations: malrotation, diaphragmatic hernia, omphalocoele
- genitourinary manifestations: horseshoe kidney, renal agenesis
Mainly due to a mutation in the PORCN gene located on the X chromosome on locus p11.23.
History and etymology
The disease was first described By Goltz RW in 1962.