Hypohidrotic Ectodermal Dysplasia: A Multidisciplinary Approach

Abstract

Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent severe overheating that may cause seizures and neurological deficits. This clinical report presents a 14-year-old male patient with hypohidrotic ectodermal dysplasia, including the clinical and radiographic findings, and multidisciplinary treatment. The Schedule for Affective Disorders and Schizophrenia for School Aged Children-Present and Lifetime Version (K-SADS-PL) was administered to patient along with mother to assess for any psychiatric disorders. The screening and rating scales completed by mother and two teachers to evaluate the severity of attention deficit hyperactivity disorder (ADHD) symptoms, and other behavioral problems. Patient's academic performance, adaptive functioning, and problem behavior was evaluated using. The Teacher Report Form. Mental capacity was assessed with the Wechsler Intelligence Scale for Children (WISC-R). Illness Perception Questionnaire Revised was used to systematically assess illness representation attributes and emotional representations of illness. On the psychiatric diagnosis assessment using K-SADS-PL sub-threshold attention deficits and anxiety symptoms were determined. In this case we established a multidisciplinary approach in his treatment with pediatric, dermatological, and dental examinations, beside his psychiatric evaluation. The prosthetic rehabilitation included restoring upper teeth with copings and fabrication of upper and lower complete dentures. Metal framework was not incorporated in the partial denture design allowing modifications as the oral and maxillofacial development continued. Removable complete or partial dentures without metal framework is a treatment of choice until the completion of facial growth at which definitive treatment is considered.

Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review

“…In total, 146 individuals (119 male; 27 female) diagnosed with HED were included in the present systematic review. The diagnosis (XL)HED was established clinically by the presence of hypo‐ or anhidrosis, hypotrichosis, hypo‐ or anodontia, and typical craniofacial dysmorphologies, with or without a positive family history or other tests such as skin biopsy (n = 6), dermatoglyphic findings (n = 3), microscopic sweat pore counts in vivo (n = 1) or starch‐iodine test (n = 1) . The clinical diagnosis of (XL)HED was reported as genetically confirmed in 29 male individuals .…”

“…Fifteen case reports and two case series reported on prosthetic rehabilitation of 17 teenagers (13 males, 4 females) aged 10‐17 years with HED (Table ). At the time of prosthetic rehabilitation, teenagers were 13 (10/16.4) years.…”

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia

“…HED seriously affects physical and mental health of patients and brings heavy economic burdens to family and society. In the past, the main treatments of HED were symptomatic approaches, including avoiding high temperature, prosthetic treatment, psychological treatment, and speech therapy to improve life quality of patients (Bildik et al, 2012; Ding et al, 2020; Schnabl et al, 2018). Fortunately, in 2018, Schneider treated three affected human fetuses through the intra‐amniotic delivery of a fusion protein that substitutes for the function of the affected EDA1 protein (Schneider et al, 2018).…”

Prosthodontic rehabilitation of a hypohydrotic ectodermal dysplasia patient with extracoronal attachments: A case report

“…The desire for better aesthetics and comfort directly reflects on the motivation to undergo extensive surgery in this age group. [29][30][31] A removable dental prosthesis remains more feasible alternative compared to fixed teeth-supported or implant-supported prostheses because the removable prosthesis is less invasive, more affordable, and it is easier to maintain oral hygiene. [38] Swelem et al, [21] reported on patient satisfaction, and quality of life assessment among removable dental prosthesis wearers suggested that comfort, general satisfaction, and masticatory efficiency were significantly higher after conventional treatment and continued to improve significantly after the use of attachments.…”