Craniofacial morphometric analysis of individuals with X‐linked hypohidrotic ectodermal dysplasia

Abstract

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.

The face of Glut1‐DS patients

“…It has already been applied to morphometric analysis of the face, and it has been suggested as a future instrument for early recognition of the syndromes (Dem sar et al, 2013;Goodwin et al, 2014). Moreover, morphometric analysis has already been proposed as a valid instrument to address other syndromes that have wide clinical manifestations or require early diagnosis (Goodwin et al, 2014;Dolci et al, 2016).…”

“…The aim of this study is to perform a 3 D stereophotogrammetric assessment of the Glut1‐DS facial phenotype to quantify facial shape and size variations through multivariate statistical techniques (Bhuiyan et al, ; Goodwin et al, ; De Giorgis et al, ; Dolci et al, ).…”

Challenges managing individuals with hereditary defects of the teeth

“…Individuals with ectodermal dysplasias often have class III malocclusions due to mid face deficiencies further complicating treatment. (15) Effective team communication and developing treatment options early on will enhance the likelihood that the parents and patient will understand the goals and treatment plan and help align the health care providers towards a unified goal. It is typically helpful to develop short term and long-term goals to address the patient's and parent's concerns and to understand that these goals are fluid and will change as the child and family change.…”

Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X

“…La displasia ectodérmica hipohidrótica ligada al X (DEHLX; OMIM 305100) [1][2][3] es el tipo más habitual, con una frecuencia menor de 1 en 100 000 individuos y es causada por mutación del gen EDA, que codifica la ectodisplasina-A. Pueden presentar también patrones de herencia autosómica recesiva y dominante, los cuales son causados por mutaciones en los genes EDAR, que codifica el receptor de la ectodisplasina-A, y EDARADD, que codifica la proteína del dominio de muerte asociado al receptor de la ectodisplasina-A, respectivamente.…”

“…Además, presenta una variedad de manifestaciones oculares; la más común es la sequedad ocular debida a la escasa producción de lágrimas y a la ausencia de la glándula de Meibomio. 1,2 El gen EDA se encuentra localizado en Xq12-q13, con más de 200 mutaciones descritas hasta el momento. La identificación de la mutación confirma el diagnóstico; sin embargo, no se ha podido establecer una clara correlación genotipo-fenotipo.…”