Focal dermal hypoplasia syndrome

Focal dermal hypoplasia syndrome, is also known as Goltz syndrome, and is not to be confused with the similar-sounding Gorlin-Goltz syndrome.

Epidemiology

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.

Clinical presentation

• 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

Pathology

Genetics

Mainly due to a mutation in the PORCN gene located on the X chromosome at locus p11.23.

Differential diagnosis

• dermatological manifestations of Proteus syndrome 
• aplasia cutis congenita
• incontinentia pigmenti

History and etymology

The disease was first described by American dermatologist Robert William Goltz (1923-2014)  in 1962 .