Facial morphometrics in the identification of gene carriers of X‐linked hypohidrotic ectodermal dysplasia

Abstract

Roentgenographic measurements and morphometric analysis were employed in the investigation of contrasting patterns of craniofacial variation between normal individuals and those affected by X-linked hypohidrotic ectodermal dysplasia (HED). The research objective was to identify and describe the facial characteristics of heterozygous gene carriers who show minor expression of the disorder. In this study of 13 HED families with 16 affected males, 12 carriers, and 12 normal individuals, affected individuals had at least 3 of the following 4 clinical signs and symptoms: a) hypodontia, b) hypohidrosis, c) hypotrichosis, and d) clinically distinct facial physiognomy. By contrast, the gene carriers manifested only one or 2 or none of the 4 clinical manifestations. In a preliminary comparison of gene carriers vs. normal individuals, we have generated 2 discriminant functions (each based on 3 facial measurements taken either from the lateral or frontal cephalograms). These 2 functions correctly diagnose 100% of the gene carriers and normal HED relatives. Facial anomalies characteristic of the gene carriers were 1) abnormally narrow and short maxillary width and palatal depth dimensions; 2) very small and retrusive malar and maxillary regions; 3) markedly reduced lower facial depth, height and width dimensions; 4) small head height, prominent forehead, and high-set orbits; 5) a generalized, symmetric reduction of the whole craniofacial complex.

Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family

“…The decreased eccrine sweat glands and the lack of the ability to resist hyperthermia often lead to hospitalization for high fevers most often during infancy (Nakata et al, 1980). The appearance of XLHED (XLHED, OMIM ID: 305100) patients typically has sparse hair, a juga forehead and chin, "saddle" nose, thick and ecstrophy lips, missing or misshapen teeth, bat ears, wrinkle and pigment sedimentation around the orbit of the eyes (Pinheiro and Freire-Maia, 1979;Saksena and Bixler, 1990;Clarke et al, 1987).…”

Dental manifestations of dermatologic conditions

“…The extent of hypodontia may be useful in assessing the severity of the disease, and is best done with dental radiographs. 16 It is extremely important for children with ED to be seen by a dentist early. Radiographs after 2 years reveal the state of the permanent teeth and allow children to be fitted with a plate early; this is helpful for both aesthetic reasons, and to maintain the alveolar ridge, allowing for later tooth implantation.…”

Implant Rehabilitation in Grafted and Native Bone in Patients Affected by Ectodermal Dysplasia: Evaluation of 78 Implants Inserted in 8 Patients

“…2 The facial anomalies characteristic of affected patients are abnormally narrow and short maxillary width and palatal depth dimensions, small and retrusive molar and maxillary regions, small head height, prominent forehead, high-set orbits, and a generalized symmetric reduction of the whole craniofacial complex. 3 The dental findings of ED range from complete anodontia to hypodontia of the primary or permanent teeth. If teeth are present, they may be tapered, malformed, or widely spaced.…”

“…As a result, the vertical dimension of the lower face is reduced, the vermilion border disappears, existing teeth are malformed, the oral mucosa becomes dry, and the lips become prominent. [3][4][5][6][7] This leads to a typical old-age appearance of the face. 8 The salivary secretion rates are reduced, and the salivary glands may be absent.…”