Ectodermal dysplasia is a group of hereditary diseases characterized by developmental defects of ectodermal structures. Its oral manifestations mainly center on congenital missing teeth, abnormal tooth morphology, and maxillofacial bone developmental disorders, which seriously affect the masticatory function, maxillofacial development, and mental health of affected children. In this article, the multidimensional diagnostic strategy system for children with ectodermal dysplasia and the related progress of early oral prosthodontic treatment methods were systematically reviewed to provide references for clinicians in the diagnosis and treatment of children with ectodermal dysplasia.
Child ; Humans ; Anodontia ; Ectodermal Dysplasia/diagnosis* ; Prosthodontics ; Tooth Abnormalities/therapy*

OBJECTIVES

To present a rare case of a 17-year-old girl with multiple odontogenic keratocysts, skeletal abnormalities, central nervous system and cutaneous anomalies.

METHODS

Design:Case Report

Setting:Tertiary Government Training Hospital

Patient: One

RESULTS

A 17-year-old Filipino girl presented with a one-year history of progressive left mandibular swelling. Orthopantomography revealed multiple cysts involving the mandible and maxillae. Histopathologic examination of incision biopsy specimens confirmed odontogenic keratocysts. Other physical examination findings included coarse face and multiple palmar and plantar pits. Radiologic investigations demonstrated calcification of the falx cerebri and tentorium cerebelli, bifid rib and cervicothoracic scoliosis. Based on clinical, radiological, and histopathological findings, a diagnosis of Gorlin-Goltz syndrome was established. The patient underwent enucleation and curettage of the cysts with peripheral ostectomy, and there was no recurrence on repeat orthopantomography at six months and two years post-operatively. However, on the fourth year, the patient claimed there was a mandibular cyst which was not verified as she was lost to follow-up.

CONCLUSION

This case highlights the importance of recognizing multiple odontogenic keratocysts as a potential manifestation of Gorlin-Goltz Syndrome. Early diagnosis enables appropriate management and long term surveillance to monitor for other manifestations of this syndrome that may occur later in life.

Human ; Female ; Adolescent: 13-18 Yrs Old ; Basal Cell Nevus Syndrome ; Mandible ; Radiography, Panoramic ; Focal Dermal Hypoplasia ; Ribs ; Scoliosis ; Spinal Cord ; Women ; History ; Lost To Follow-up ; Diagnosis

This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor development, macrocephaly, and cardiac abnormalities. Whole-exome sequencing identified a 1 040 kb heterozygous deletion in the 19p13.3 region of the child, which was rated as a "pathogenic variant". This is the first case of CFCS caused by a loss-of-function mutation reported in China, which enriches the genotype characteristics of CFCS. It is imperative to enhance the understanding of CFCS in children. Early identification based on its clinical manifestations should be pursued, and genetic testing should be performed to facilitate diagnosis.
Humans ; Chromosome Deletion ; Chromosomes, Human, Pair 19/genetics* ; Ectodermal Dysplasia/genetics* ; Facies ; Failure to Thrive/genetics* ; Heart Defects, Congenital/genetics*

Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients' hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.
Humans ; Connexin 30/genetics* ; Connexins/genetics* ; East Asian People ; Ectodermal Dysplasia/pathology* ; Phenotype

Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is an ectodermal dysplasia presenting with cleft lip or palate and congenital filiform eyelid fusion. This is a case report of a 1-year and 6-month-old girl with AEC syndrome presenting with temporomandibular joint ankylosis who underwent release of temporomandibular joint ankylosis, coronoidectomy, bilateral cheiloplasty, Tajima rhinoplasty, and repair of lower lip pits under general anesthesia. Fiberoptic nasotracheal intubation was done successfully using a two-stage technique originally described by Stiles. As necessitated by the surgical plan, video laryngoscope guidance was subsequently used to facilitate the conversion from nasotracheal to orotracheal intubation.

Ectodermal Dysplasia ; Temporomandibular ankylosis ; Airway Management

Objective: To detect gene mutation in patients with hypohidrotic ectodermal dysplasia (HED) by using whole exome sequencing, to analyze the pathogenicity of the mutations, and to provide reference for the genetic diagnosis of HED patients. Methods: Peripheral blood genomic DNA was extracted from each of the HED patients and their family members collected in Peking University School and Hospital of Stomatology from August 2016 to August 2021. Whole exome sequencing and sanger sequencing were performed to detect gene mutations. Functions of the rare variants after the database filtering were analyzed by bioinformatics tools. Results: Three reported mutations of ectodysplasin A (EDA) gene (c.2T>C, c.161A>G, c.467G>A) and a mutation of ectodysplasin A receptor (EDAR) gene (c.871G>A) were detected by whole genome sequencing in four HED patients, and were verified by Sanger sequencing in four HED families. The EDAR gene mutation founded in this research was reported in HED patients for the first time. Bioinformatics tools predicted that the mutations of EDA gene detected in this study were highly species conserved and disease-causing. The combined annotation dependent depletion (CADD) scores of EDA gene mutations c.2T>C, c.161A>G and c.467G>A were 22.5, 26.3 and 25.5 respectively, and the genomic evolutionary rate profiling (GERP) scores were 2.16, 2.26 and 2.18 respectively. The EDAR gene mutation c.871G>A detected in this study was species conserved and possibly disease-causing. The CADD and GERP scores of EDAR gene mutation c.871G>A were 22.0 and 1.93 respectively. Conclusions: Three reported mutations of EDA gene and a previously unreported mutation of EDAR gene were detected in four HED families. Different mutations of EDA gene and EDAR gene could make different influence on the protein function and lead to the occurrence of HED.
Ectodermal Dysplasia/genetics* ; Ectodermal Dysplasia 1, Anhidrotic/genetics* ; Edar Receptor/genetics* ; Humans ; Mutation ; Pedigree ; Whole Exome Sequencing

OBJECTIVE: To explore the genotype-phenotype correlation of a patient with cardio-facio-cutaneous syndrome (CFCS) due to variant of the MAP2K1 gene. METHODS: DNA was extracted from peripheral blood samples of the infant and his parents and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The patient had typical CFCS facies and developmental delay, and was found to harbor a de novo heterozygous c.389A>G (p.Tyr130Cys) missense variant in exon 3 of the MAP2K1 gene. Based on the American college of Medical Genetics and Genomics guidelines, this variant was classified as likely pathogenic. CONCLUSION This patient has differed from previously reported cases by having no cardiac anomaly or seizures but typical facial features and skin abnormalities accompanied by growth retardation, intellectual impairment, and urinary malformation. It has therefore enriched the phenotypic spectrum of CFCS due to variants of the MAP2K1 gene.
Ectodermal Dysplasia/genetics* ; Facies ; Failure to Thrive/genetics* ; Heart Defects, Congenital ; Humans ; MAP Kinase Kinase 1/genetics* ; Mutation

OBJECTIVE: To analyze the clinical and genetic characteristics of a boy featuring unexplained developmental delay, malnutrition and distinct facial appearance. METHODS: Physical examination was carried out for the child. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA and trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The patient had facial dysmorphism including nasal alae aplasia, scalp defect and teeth deformities, in addition with recurrent diarrhea due to pancreatic exocrine insufficiency. DNA sequencing revealed that he has harbored compound heterozygous variants of the UBR1 gene, namely c.3167C>G (p.S1056X) and c.1911+14C>G, which were inherited from his father and mother, respectively. Database search has suggested the c.3167C>G to be a novel nonsense variant and c.1911+14C>G a known splicing variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were predicted to be pathogenic and likely pathogenic, respectively. CONCLUSION The child was diagnosed with Johanson-Blizzard syndrome due to the compound heterozygous variants of the UBR1 gene. Above finding has enriched the mutational spectrum of the UBR1 gene and provided a basis for genetic counseling for this family.
Child ; Humans ; Male ; Ectodermal Dysplasia/genetics* ; Pancreatic Diseases/genetics* ; Ubiquitin-Protein Ligases/genetics*

Child ; Ectodermal Dysplasia/genetics* ; Ectodermal Dysplasia 1, Anhidrotic/genetics* ; Ectodysplasins/genetics* ; Genetic Testing ; Humans ; Mutation ; Pedigree

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.
Abnormalities, Multiple ; Child ; Ectodermal Dysplasia/genetics* ; Facies ; Failure to Thrive ; Heart Defects, Congenital/genetics* ; Humans ; Mutation ; Proto-Oncogene Proteins B-raf/genetics*