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Focal Dermal Hypoplasia (Goltz syndrome)
What are the symptoms?
Affected areas of skin are often atrophic (thin) and are characteristically in a linear or line distribution, especially on the limbs. The abnormal areas appear pink or red in colour although they may become less clear and somewhat pigmented with age. Some thinner areas of skin, for instance in the elbows, allow fat from the layers below to protrude forming small yellowish-white lumps. They are not usually sore or itchy and can occur anywhere on the body. In addition, the nails can be brittle and ridged, the teeth can be small or missing and the hair is often sparse and grows slowly. Papillomas (small lumps) can develop around the lips, gums or the side of the nose. The lips themselves are often irregularly formed.
The limbs may also be affected but almost never symmetrically, and the difference between hands and feet can also be remarkably large. Hand (see entry, Upper Limb Abnormalities) and foot (see entry, Upper Limb Abnormalities) anomalies include syndactyly (joined together digits), polydactyly (extra digits) and occasionally missing digits (especially the middle three fingers, giving rise to a 'lobster claw' hand) or the entire hand. The eyes may be involved and there may be a coloboma of the iris. The abnormalities are again often not the same in each eye. Head circumference can be small. Some children are developmentally delayed, others follow a normal development. Behavioural problems do not specifically occur. The gut may also be involved with malrotation (incorrect turning) of the gut, duodenal atresia (closure) and occasionally exomphalos (protrusion of abdominal contents through the navel) see entry, Abdominal Exstrophies. Congenital heart disease (see entry, Heart Defects) and cleft lip and/or palate are also reported but not specific. It must be stressed that the condition is very variable in its presentation and the diagnosis can be difficult to make. There are a few entities like MIDAS that can resemble Focal Dermal Hypoplasia to a great extent.
Background
| How is it diagnosed? 
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