A number of craniofacial malformation syndromes are characterized by prominent abnormalities of the skin, hair, nails, and mucous membranes. Many of these findings have been discussed little or not at all in the dermatologic literature. The goal of this review is to present some of the more prominent and distinctive syndromes to increase their recognition by dermatologists and to stimulate further investigation.
The literature regarding syndromes in which major craniofacial anomalies, eg, craniosynostosis or clefting, were present was reviewed and those syndromes with prominent mucocutaneous findings were identified. Although some are well described in the literature, the findings in others are insufficiently detailed from a dermatologic point of view. Little has been written regarding therapeutic intervention.
More accurate descriptions of many craniofacial malformation syndromes are needed by dermatologists. Alerting the dermatologic community to their existence should stimulate attempts at therapeutic intervention on behalf of affected persons.(Arch Dermatol. 1992;128:1379-1386)
Orlow SJ. Cutaneous Findings in Craniofacial Malformation Syndromes. Arch Dermatol. 1992;128(10):1379-1386. doi:10.1001/archderm.1992.01680200089014