Oral phenotype and variation in focal dermal hypoplasia

Abstract

Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal Dysplasia. Individuals were evaluated to characterize the FDH phenotype. Each participant completed a brief dental survey and oral evaluation using artificial light. To identify the oral soft and hard tissue findings 19 individuals (16 female and 3 male) participated with a median age of 10 years (range 2-56 years). Soft and hard tissue defects were present in 68% (13) and 94% (18) of the patients, respectively. Dental anomalies were highly prevalent with 68% (13) demonstrating vertical enamel grooving, 52% (10) having peg shaped tooth deformities, and 78% (15) having enamel hypoplasia with or without discoloration. Cleft lip and cleft palate presented in 15% (3) of the participants. Other findings included 57% (11) having intra-oral lipoma or papilloma with no site predilection. Dental malocclusions were common with 63% (12) having some degree of malocclusion with 15% (3) of participants having class III malocclusion with an anterior dental cross bite. Participants frequently reported speech problems or difficulty with chewing (73%; N = 14). This study shows there is marked variation in the oral phenotype of individuals with FDH and underscores the important role of WNT signaling in oro-facial development.

Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK

“…Of those specific to ENT, 15% had cleft lip and cleft palates and 57% had intraoral lipomas or papillomas 6. Subsequently, it was shown that 73% had speech problems or difficulty chewing 6. Papillomatosis disease secondary to FDH has been reported to cause dysphagia similar to this case, most requiring resection 7…”

“…There is significant variation in the phenotype of craniofacial lesions. Of those specific to ENT, 15% had cleft lip and cleft palates and 57% had intraoral lipomas or papillomas 6. Subsequently, it was shown that 73% had speech problems or difficulty chewing 6.…”

Growth failure in focal dermal hypoplasia

“…Could short stature be related to poor nutrition secondary to abnormal dentition? Wright and colleagues reported oral hard tissue anomalies in 94% and oral soft tissue anomalies in 68% of FDH patients they assessed (Wright, Puranik, & Farrington, ). However, patients with hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia, have extensive dental anomalies and Motil et al () found that mean height for age z‐scores were not significantly lower in this population, although mean weight for age z‐scores were significantly lower.…”

Developmental Dental Anomalies of Primary and Permanent Dentition

“…Severe enamel hypoplasia is commonly associated with rickets occurring from vitamin D deficiency [107]. Moderate to severe forms of enamel hypoplasia can be seen in focal dermal hypoplasia or Goltz syndrome [108]. Enamel hypoplasia can be clinically detected as opaque-chalky spots of enamel that have otherwise normal surface contours.…”