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At a glance

Ectodermal dysplasia combined with congenital heart disease.

Synonyms

XTE-Syndrome; Moynahan Syndrome Type III.

Incidence and genetic inheritance

This is an extremely rare, autosomal dominant inherited form of ectodermal dysplasia. Two cases described.

Clinical aspects

Characterized by xeroderma, talipes, and tooth enamel defects. Further signs include growth and mild mental retardation, congenital mitral stenosis, cleft palate, absent eyelashes of the lower lid, short-lasting skin vesicles, reduced number of sweat glands associated with hypohidrosis, and increased photosensitivity. Hair, finger, and toenails can be abnormal.

Anesthetic considerations

From an anesthetic point of view, a preoperative echocardiography to assess cardiac function and the degree of mitral stenosis is recommended. Depending on the procedure, patients may need bacterial endocarditis prophylaxis. Xeroderma may also involve the lacrimal system and care must be taken to avoid corneal ulcerations during anesthesia. Vascular access may be challenging in the presence of the skin changes. Environmental temperature must be well controlled to avoid hyperthermia.

Pharmacological implications

In the face of decreased sweating, atropine should not be used and hyperthermia must be avoided.

References

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Moynahan  EJ: XTE syndrome (xeroderma, talipes and enamel defect): A new heredo-familial syndrome. Two cases. Homozygous inheritance of a dominant gene. Proc R Soc Med 63:447, 1970.  [PubMed: 5453419]

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