Robert William Goltz and Robert James Gorlin contributed to our understanding of this syndrome which is often eponymously named after them (Goltz-Gorlin syndrome).
This syndrome exhibits a wide range of clinical features and few patients have the majority of them. The outstanding finding is in the skin which has streak-like areas of decreased pigmentation. Some infants have evidence of active inflammation in these areas which disappears later. Growths called papillomas often appear in the mouth or esophagus but may occur in other areas including the eyelids. The teeth erupt late and are often underdeveloped. The nails are irregular and some of the fingers and toes may be fused giving a ‘lobster-claw’ appearance. Mental deficits are common.
The eye signs can be multiple although many individuals likely have normal vision. There may be defects in the iris and in the inside of the eye indicating incomplete development. ‘Dancing’ eyes (nystagmus) and strabismus are common. Papillomas of the eyelids and external tissue of the eye can occur. The eye may be abnormally small.
The pattern of inheritance follows that of an X-linked dominant disorder with lethality in affected males. That is, in general only females have this disorder but affected males and father-to-daughter transmission has been reported. This suggests that, even though the mutant gene is on the X-chromosome and is usually incompatible with life in males, an additional mechanism must be at work to modify the expression of the mutation in some males.
This is a multisystem disorder but is most likely to be diagnosed by dermatologists. However, others such as pediatricians, ophthalmologists, and medical geneticists are likely to be involved as well. Severely affected infants may die in the neonatal or early childhood period, but in others there is minimal involvement and the condition may not be diagnosed until adulthood.
Surgery may be required if the papillomas obstruct functions vital to life such as swallowing and breathing.