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*

OBJECTIVE: To detect variant of EDA gene in a fetus with absence of germ teeth detected by prenatal ultrasonography. METHODS: Clinical data and amniotic fluid and peripheral venous blood samples of the pregnant woman were collected for the analysis. Following extraction of genome DNA, the coding regions of the EDA gene were amplified by PCR and subjected to next-generation sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The pregnant woman was found to carry a heterozygous c.574G>A variant in the EDA gene, for which the fetus was hemizygous. Bioinformatic analysis suggested the variant to be pathogenic. CONCLUSION Combined ultrasonographic and genetic findings suggested the fetus is affected with X-linked hypohidrotic ectodermal dysplasia due to pathogenic variant of the EDA gene.
Ectodermal Dysplasia 1, Anhidrotic/genetics* ; Ectodysplasins/genetics* ; Female ; Fetus ; Humans ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg. She had syndactyly on the right foot and the scalp lesion appeared to be an atrophic, membranous, fibrotic alopecic scar. A biopsy of the calf revealed upper dermal extension of fat cells, dermal atrophy, and loss of dermal collagen. A diagnosis of almost unilateral focal dermal hypoplasia was made on the basis of physical and histologic findings. Henceforth, the patient was referred to a plastic surgeon and an orthopedics department to repair her syndactyly.
Adipocytes ; Atrophy ; Biopsy ; Cicatrix ; Collagen ; Diagnosis ; Ectodermal Dysplasia ; Female ; Focal Dermal Hypoplasia* ; Foot ; Humans ; Leg ; Orthopedics ; Plastics ; Republic of Korea ; Scalp ; Skin ; Syndactyly ; Telangiectasis ; Toes ; Young Adult

Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg. She had syndactyly on the right foot and the scalp lesion appeared to be an atrophic, membranous, fibrotic alopecic scar. A biopsy of the calf revealed upper dermal extension of fat cells, dermal atrophy, and loss of dermal collagen. A diagnosis of almost unilateral focal dermal hypoplasia was made on the basis of physical and histologic findings. Henceforth, the patient was referred to a plastic surgeon and an orthopedics department to repair her syndactyly.
Adipocytes ; Atrophy ; Biopsy ; Cicatrix ; Collagen ; Diagnosis ; Ectodermal Dysplasia ; Female ; Focal Dermal Hypoplasia* ; Foot ; Humans ; Leg ; Orthopedics ; Plastics ; Republic of Korea ; Scalp ; Skin ; Syndactyly ; Telangiectasis ; Toes ; Young Adult

OBJECTIVETo analyze GJB6 gene mutations in a Chinese family with hidrotic ectodermal dysplasia and to provide first-trimester prenatal diagnosis for a fetus.

METHODSMutation scanning was carried out with PCR and bilateral direct sequencing in 2 affected and 6 unaffected individuals from the family. After the mutation was confirmed, prenatal diagnosis was performed on chorionic villi samples obtained at 11th gestational week.

RESULTSA heterozygous missense mutation c.31G>A of the GJB6 gene was discovered in all of the patients, which has led to substitution of glycine by arginine at codon 11 (p.G11R) at the N-terminal of the GJB6 protein. Prenatal diagnosis indicated that the fetus had also carried the same p.G11R mutation. Following termination of the pregnancy, analysis of the aborted tissues was consistent with prenatal diagnosis.

CONCLUSIONThe missense mutation c.31G>A(p.G11R) of the GJB6 gene probably underlies the disease in this family. Prenatal diagnosis with DNA sequencing can facilitate genetic counseling of this family.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; DNA Mutational Analysis ; Ectodermal Dysplasia ; diagnosis ; embryology ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Pregnancy ; Pregnancy Trimester, First ; genetics ; Prenatal Diagnosis

OBJECTIVETo detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED).

METHODSGenomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing.

RESULTSA c.467G> A mutation (R156H) was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls.

CONCLUSIONA c.467G>A mutation of the EDA gene probably underlies the disease in the family.

Base Sequence ; Child ; Ectodermal Dysplasia 1, Anhidrotic ; diagnosis ; genetics ; Ectodysplasins ; genetics ; Exons ; Female ; Genotype ; Humans ; Male ; Mutation ; Pedigree

OBJECTIVETo identify potential mutation of ectodysplasin A (EDA) gene in a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia.

METHODSBlood samples were collected from the affected male proband, his family members and 103 unrelated individuals. Following extraction of genomic DNA, coding sequence of the EDA gene was amplified with PCR, and DNA sequencing was performed to detect potential mutation.

RESULTSA novel missense mutation, c.822G>T (p.W274C), was identified in exon 7 of the EDA gene in the proband, whilst his mother was found to be a heterozygous carrier. The same mutation was also found in 5 other family members including one affected male and four females, but was absent in unaffected males and 103 unrelated individuals.

CONCLUSIONA c.822G>T mutation in exon 7 of the EDA gene probably underlies the disease in this Chinese family.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Ectodermal Dysplasia 1, Anhidrotic ; diagnosis ; genetics ; Ectodysplasins ; genetics ; Exons ; Female ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; Young Adult

Ectodermal Dysplasia 1, Anhidrotic ; diagnosis ; genetics ; Ectodysplasins ; genetics ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Mutation, Missense

Anhidrotic ectodermal dysplasia (EDA) is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need other methods to assist to in prenatal diagnosis. Here, we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin biopsy under fetoscopy in mid pregnancy, combined with a review of the literature.
Adult ; Biopsy ; Ectodermal Dysplasia ; diagnosis ; genetics ; pathology ; Female ; Humans ; Infant, Newborn ; Male ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Skin ; pathology

OBJECTIVETo study the clinical characteristics and diagnosis of the Johanson-Blizzard syndrome.

METHODThe clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis was made in diagnosing procedure, and 28 cases of Johanson-Blizzard syndrome with detailed clinical data were reviewed and analyzed.

RESULTA one year and nine months old girl, who was initially admitted to the hospital because of fatty diarrhea and increased frequency of defecation. Imperforate anus, and aplastic alae nasi was noticed after birth. On physical examination, short stature, mental retardation, tooth abnormalities and scalp defects were observed. Fat globule was found by routine stool test. Serum biochemistry showed an exocrine and endocrine pancreatic insufficiency, CT scan of the abdomen demonstrated fatty replacement of the pancreas, UBR1 gene analysis showed heterozygous for two missense changes. In all 29 cases, exocrine pancreatic insufficiency (72.4%) and hypoplasia of the alae nasi (93%) were the most common clinical manifestations, and sensorineural hearing loss (59%), scalp defects (69%) and hair thinning or upsweep of the hair (44.8%), hypothyroidism (44.8%), absence of permanent teeth (44.8%) and imperforate anus (21%) were also very common, but did not include consanguineous marriage of parents (10.3%).

CONCLUSIONJohanson-Blizzard syndrome is a rare autosomal recessive multisystem disorder, it is characterized by the association of congenital exocrine pancreatic insufficiency and hypoplasia or aplasia of the nasal wings, and can be diagnosed by clinical characteristics and UBR1 gene analysis.

Anus, Imperforate ; Deafness ; diagnosis ; genetics ; pathology ; Ectodermal Dysplasia ; diagnosis ; genetics ; pathology ; Female ; Growth Disorders ; Hearing Loss, Sensorineural ; Humans ; Hypothyroidism ; diagnosis ; genetics ; pathology ; Infant ; Intellectual Disability ; Nose ; abnormalities ; pathology ; Pancreatic Diseases ; diagnosis ; genetics ; pathology ; Ubiquitin-Protein Ligases ; genetics