Focal dermal hypoplasia syndrome, is also known as Goltz syndrome, and is not to be confused with the similar-sounding Gorlin-Goltz syndrome.
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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) 3 in 1962 1.
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