Focal Dermal Hypoplasia
Patient Information
Characteristics
Background and History
Robert William Goltz and Robert James Gorlin contributed to our understanding of this syndrome which is often eponymously named after them (Goltz-Gorlin syndrome).
Clinical Correlations
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.
Genetics
Inheritance
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.
Pedigree
X-linked dominant, father affected
X-linked inheritance patterns result when disease-causing mutations are located on the X chromosome. Males have one X chromosome while females have two. A mutation on the male's X chromosome frequently is lethal or renders him unable to reproduce. However, in rare cases when males have children, they can expect that all of then will inherit the condition.
X-linked inheritance patterns result when disease-causing mutations are located on the X chromosome. Males have one X chromosome while females have two. A mutation on the male's X chromosome frequently is lethal or at least renders them unable to reproduce. However, in rare cases when males have children, they can expect that all of then will inherit the condition.
X-linked dominant, mother affected
X-linked inheritance patterns result from mutations located on the X chromosome. Females have two X chromosomes of which only one carries a mutation in X-linked dominant disorders. This usually results in expression of the disease and women with a single mutation have the disorder caused by the mutation. Half of their offspring, male and female, will inherit the mutation. Men, with only one X chromosome, will always have the condition if they inherit the one with the mutation. Men would transmit it to all of their offspring. Without a modifying normal gene on a second X chromosome, X-linked dominant conditions are frequently lethal in such males. The result is a vertical transmission pattern, usually from female to female.
X-linked inheritance patterns result from mutations located on the X chromosome. Females have two X chromosomes of which only one carries a mutation in X-linked dominant disorders. This usually results in expression of the disease and women with a single mutation have the disorder caused by the mutation. Half of their offspring, male and female, will inherit the mutation. Men, with only one X chromosome, will always have the condition if they inherit the one with the mutation. Men would transmit it to all of their offspring. Without a modifying normal gene on a second X chromosome, X-linked dominant conditions are frequently lethal in such males. The result is a vertical transmission pattern, usually from female to female.
Diagnosis and Prognosis
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.
Web Resources
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