5,897 results match your criteria Ectodermal Dysplasia


Staged ocular fornix reconstruction for glaucoma drainage device under neoconjunctiva at the time of Boston type 1 Keratoprosthesis implantation.

Ocul Surf 2019 Feb 8. Epub 2019 Feb 8.

Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, United States.

Purpose: Glaucoma is the leading cause of vision loss in eyes with Boston Keratoprosthesis (KPro). Glaucoma drainage devices (GDDs) have been shown to be effective in controlling glaucoma with KPro. Cicatricial conjunctival disease with forniceal shortening is a major challenge and limitation to the use of GDD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jtos.2019.01.010DOI Listing
February 2019

A case of anhidrotic ectodermal dysplasia presenting with pyrexia, atopic eczema, and food allergy.

Asia Pac Allergy 2019 Jan 14;9(1):e3. Epub 2019 Jan 14.

Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital, Kanagawa, Japan.

Anhidrotic ectodermal dysplasia (AED) is a rare hereditary disorder with a triad of sparse hair, dental hypoplasia, and anhidrosis. Here we report a case of AED with food allergy and atopic eczema. The patient was a 11-month-old boy admitted to our hospital with pyrexia for 2 weeks. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5415/apallergy.2019.9.e3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365661PMC
January 2019
1 Read

Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report.

Spec Care Dentist 2019 Feb 5. Epub 2019 Feb 5.

Professor of Pediatric Dentistry, Department of Pediatric Dentistry and Dental Public Health, Faculty of Dentistry, Alexandria University, Egypt.

Ectrodactyly ectodermal dysplasia with clefting is a rare syndrome resulting from TP63 gene mutations. It is inherited in autosomal dominant manner or as a de novo transfiguration. It is characterized by a triad of ectodermal dysplasia, ectrodactyly, and facial clefts. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/scd.12364DOI Listing
February 2019

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Am J Med Genet A 2019 Mar 31;179(3):442-447. Epub 2019 Jan 31.

Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD.

An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non-syndromic traits of the causative gene (e. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61045DOI Listing
March 2019
2 Reads

Eccrine Porocarcinoma in a patient with Schöpf-Schulz-Passarge syndrome.

Clin Exp Dermatol 2019 Jan 28. Epub 2019 Jan 28.

North Bristol NHS Trust, Southmead Hospital, Bristol, BS10 5NB.

Histological analysis of the lesion proved to be challenging. An initial punch biopsy showed an ulcerated tumour comprised of islands of monomorphic cells with duct formation pushed deep into the dermis, and a lace-like pattern of infiltration. At this point a diagnosis of eccrine porocarcinoma was favoured over poroma due to the presence of desmoplastic response and focal infiltrative growth pattern. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.13932DOI Listing
January 2019

Prosthodontic Rehabilitation of a Child with Ectodermal Dysplasia: A Preliminary Report.

Int J Prosthodont 2019 Jan/Feb;32(1):107-109

This case history report describes the dental management of a child with ectodermal dysplasia with the premise that appropriate and early dental management positively impacts the oral health-related quality of life of such patients, irrespective of the age at which treatment is initiated. Read More

View Article

Download full-text PDF

Source
http://quintpub.com/journals/ijp/abstract.php?iss2_id=1583&a
Publisher Site
http://dx.doi.org/10.11607/ijp.5745DOI Listing
January 2019
2 Reads

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.

Fam Cancer 2019 Jan 22. Epub 2019 Jan 22.

Parkville Familial Cancer Centre, The Royal Melbourne Hospital and Peter MacCallum Cancer Centre, Parkville, VIC, Australia.

The AXIN2 gene, like APC, plays a role in the Wnt signalling pathway involved in colorectal tumour formation. Heterozygous mutations in AXIN2 have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. There is a paucity of published AXIN2 families making genotype-phenotype (polyposis, colorectal cancer and oligodontia) correlations challenging. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10689-019-00120-0
Publisher Site
http://dx.doi.org/10.1007/s10689-019-00120-0DOI Listing
January 2019
2 Reads

Syndromes associated with dental agenesis.

Minerva Stomatol 2019 Feb;68(1):42-56

Section of Oral and Maxillofacial Surgery, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.

Introduction: Dental agenesis is the congenital absence of a variable number of teeth due to the lack of formation of the corresponding tooth germ. The aim of this work was to investigate the syndromic conditions characterized by dental agenesis.

Evidence Acquisition: Based on the research conducted through the OMIM® (Online Mendelian Inheritance in Man) and PubMed online databases, more than ninety syndromes associated with severe or moderate agenesis have been found. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.23736/S0026-4970.18.04129-8DOI Listing
February 2019

Oral Care Program for Successful Long-Term Full Mouth Habilitation of Patients with Hypohidrotic Ectodermal Dysplasia.

Case Rep Dent 2018 29;2018:4736495. Epub 2018 Nov 29.

Clinical Assistant Professor, Department of Biological and Material Sciences, School of Dentistry, University of Michigan, Ann Arbor, Michigan, USA.

Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder that associates with dental manifestations of anodontia, hypodontia, and atrophic alveolar ridges. Although the disorder does not affect the life expectancy of the patient, it poses tremendous challenges on the patient's physical and psychosocial development. Early and multidisciplinary dental care can benefit HED children's development and improve their quality of life. Read More

View Article

Download full-text PDF

Source
https://www.hindawi.com/journals/crid/2018/4736495/
Publisher Site
http://dx.doi.org/10.1155/2018/4736495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305053PMC
November 2018
5 Reads

Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia.

Clin Genet 2019 Mar;95(3):427-432

Center for Ectodermal Dysplasias and Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic condition resulting from defective development of ectodermal derivatives, such as hair, teeth, and sweat glands. Autosomal recessive (AR) forms of HED may be caused by pathogenic variants of the ectodysplasin A1 receptor (EDAR) gene that encodes a receptor involved in the NF-κB signaling pathway. Here, we describe three cases of AR-HED in families of Turkish, Austrian, and German-American origin (with or without known consanguinity). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13503DOI Listing
March 2019
1 Read

GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.

Int J Dermatol 2019 Jan 8. Epub 2019 Jan 8.

Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu, China.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ijd.14341
Publisher Site
http://dx.doi.org/10.1111/ijd.14341DOI Listing
January 2019
5 Reads

Establishment of an ectodermal dysplasia related gene EDA Knockout human embryonic stem cell line (WAe001-A-22) by CRISPR-Cas9 technology.

Stem Cell Res 2019 Jan 21;34:101379. Epub 2018 Dec 21.

Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China. Electronic address:

EDA is a gene located at Xq13.1. It encodes different isoforms of tumor necrosis factor (TNF) superfamily member ectodysplasin A. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2018.101379DOI Listing
January 2019
1 Read

Patient with asymmetric multiple hypodontia treated with autotransplantation of 2 premolars.

Am J Orthod Dentofacial Orthop 2019 Jan;155(1):127-134

Department of Periodontoloty, Medical University of Warsaw, Warsaw, Poland.

Tooth autotransplantation is performed in patients with congenitally missing teeth and those with traumatic tooth loss. We report a course of edgewise treatment of a girl with multiple congenitally missing teeth and residual features of ectodermal dysplasia, who was treated with autotransplantation of 2 premolars with developing roots. She was 8 years old at the beginning of the treatment. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08895406183083
Publisher Site
http://dx.doi.org/10.1016/j.ajodo.2018.08.014DOI Listing
January 2019
7 Reads

Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome.

Case Rep Pediatr 2018 21;2018:5189062. Epub 2018 Nov 21.

Radiology Department, University of Liege, Centre Hospitalier Regional de la Citadelle, Bld du 12eme de Ligne 1, 4000 Liege, Belgium.

Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2018/5189062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280227PMC
November 2018

Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.

Am J Med Genet A 2019 Jan 20;179(1):57-64. Epub 2018 Dec 20.

Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing, PR China.

Odonto-onycho-dermal dysplasia (OODD) is a rare autosomal recessive syndrome characterized by multiple ectodermal abnormalities. Mutations of the wingless-type MMTV integration site family member 10A (WNT10A) gene have been associated with OODD. To date, only 11 OODD-associated WNT10A mutations have been reported. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.60682DOI Listing
January 2019
3 Reads

Interceptive treatment in ectodermal dysplasia using an innovative orthodontic/prosthetic modular appliance. A case report with 10- year follow-up.

Eur J Paediatr Dent 2018 Dec;19(4):307-312

Dean School of Dentistry, Chair of Orthodontics, Catholic University of the Sacred Heart, Rome, Italy.

Aim: The treatment of a complex case of hypohidrotic ectodermal dysplasia (HED) with severe oligodontia.

Case Report: A 6 years old boy with HED, was treated with an orthodontic/prosthetic modular appliance. The device is custom made and consists of two parts, upper and lower, which were partially removable and partially fixed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.23804/ejpd.2018.19.04.11DOI Listing
December 2018

Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape.

Cell Rep 2018 Dec;25(12):3490-3503.e4

Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

Transcription factor p63 is a key regulator of epidermal keratinocyte proliferation and differentiation. Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome. However, the underlying molecular mechanism of these mutations remains unclear. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S22111247183180
Publisher Site
http://dx.doi.org/10.1016/j.celrep.2018.11.039DOI Listing
December 2018
8 Reads
7.207 Impact Factor

A case of focal facial dermal dysplasia type 4.

Pediatr Dermatol 2019 Jan 18;36(1):e58-e59. Epub 2018 Dec 18.

Medway NHS Foundation Trust, Gillingham, UK.

We present a rare case of focal facial dermal dysplasia type 4 (FFDD4) in an otherwise healthy boy infant, presenting as bilateral preauricular scarlike defects surrounded by a hair collar, resembling membranous aplasia cutis congenita. The presence of a hair collar supports the hypothesis that FFDD is caused by abnormal closure at facial embryonic fusion lines, but unlike midline scalp defects is not associated with neurological compromise. Other types of FFDD occur at different sites and can be associated with cranial dysgraphism. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13730DOI Listing
January 2019
1 Read

Diagnosis of Tooth Agenesis in Childhood and Risk for Neoplasms in Adulthood.

Ochsner J 2018 ;18(4):345-350

Department of Pediatric Dentistry, Medical University of South Carolina, James B. Edwards College of Dental Medicine, Charleston, SC.

Background: Tooth agenesis, the congenital absence of one or more teeth, can be diagnosed in children in the first decade of life. Tooth agenesis is a phenotypic feature of conditions such as ectodermal dysplasia, cleft lip, cleft palate, Down syndrome, and Van der Woude syndrome. Tooth agenesis can also be nonsyndromic. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.31486/toj.18.0060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292463PMC
January 2018

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Pediatr Endocrinol Rev 2018 Dec;16(2):275-283

Medical School, Mohammed VI Hospital 4806, 60049 Oujda, Morocco, E-mail:

Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. Read More

View Article

Download full-text PDF

Source
http://pediatricendoreviews.com
Publisher Site
http://dx.doi.org/10.17458/per.vol16.2018.ellisvananddandywalerDOI Listing
December 2018
6 Reads

[New insight of craniofacial and oral findings of the RASopathies].

Zhonghua Kou Qiang Yi Xue Za Zhi 2018 Dec;53(12):858-861

Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University & State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Chengdu 610041, China.

The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), NS with multiple lentigines (NSML), neu-rofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1002-0098.2018.12.014DOI Listing
December 2018
3 Reads

Hypohidrotic Ectodermal Dysplasia: A Rare Disorder with Bilateral Infantile Glaucoma.

J Glaucoma 2018 Dec 11. Epub 2018 Dec 11.

Glaucoma and anterior segment, Dr. Shroff's charity eye hospital, Delhi.

Ectodermal dysplasia is a disorder that occurs due to abnormalities of ectodermal structures such as skin, teeth, hair, nails, and eccrine glands. Approximately 200 different conditions have been identified as ectodermal dysplasia, the most common being hypohidrotic ectodermal dysplasia (HED). It is characterized by hypotrichosis (sparse scalp or body hair), hypodontia (absent or malformed teeth) and hypohidrosis (reduced ability to sweat). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IJG.0000000000001156DOI Listing
December 2018
10 Reads

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.

BMC Med Genet 2018 Dec 7;19(1):209. Epub 2018 Dec 7.

Department of Prosthodontics, Changsha Stomatological Hospital, Changsha, 410004, Hunan, China.

Background: Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this disease. In our preliminary study, three unknown mutation sites (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-018-0726-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286515PMC
December 2018
2 Reads

Schopf-Schulz-Passarge Syndrome.

Indian Dermatol Online J 2018 Nov-Dec;9(6):448-451

Department of Dermatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.

Schopf-Schulz-Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas. A 36-year-old male presented with multiple eyelid and periocular apocrine hidrocystomas, ichthyosis, palmoplantar keratoderma, hypodontia, nail dystrophy, and thin scalp hair. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/idoj.IDOJ_26_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232990PMC
December 2018
2 Reads

Chondroectodermal Syndrome.

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):473-475

National Orthopaedic Hospital, Bahawalpur, Pakistan.

Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B. Read More

View Article

Download full-text PDF

Source
January 2019
2 Reads

Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment.

Indian J Ophthalmol 2018 Dec;66(12):1869-1871

Department of Vitreo-Retinal Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Madurai, Tamil Nadu, India.

Wyburn-Mason syndrome is associated with unilateral retinal racemose hemangioma. Rarely, it presents with bilateral and symmetrical grade of malformation. We describe a 37-year old male, who presented with Wyburn-Mason syndrome presenting with bilateral but asymmetrical retinal hemangioma. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_455_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256888PMC
December 2018
8 Reads

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

J Clin Invest 2019 Feb 18;129(2):583-597. Epub 2018 Dec 18.

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

X-linked dominant incontinentia pigmenti (IP) and X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) are caused by loss-of-function and hypomorphic IKBKG (also known as NEMO) mutations, respectively. We describe a European mother with mild IP and a Japanese mother without IP, whose 3 boys with EDA-ID died from ID. We identify the same private variant in an intron of IKBKG, IVS4+866 C>T, which was inherited from and occurred de novo in the European mother and Japanese mother, respectively. Read More

View Article

Download full-text PDF

Source
http://www.jci.org/articles/view/124011
Publisher Site
http://dx.doi.org/10.1172/JCI124011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355244PMC
February 2019
15 Reads
13.215 Impact Factor

Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.

Oral Dis 2019 Mar 7;25(2):523-534. Epub 2018 Dec 7.

Second Dental Clinic, Department of Oral Implantology, Ninth People's Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology, National Clinical Research Center of Stomatology, Shanghai Jiao Tong University, Shanghai, China.

Objectives: To identify potentially pathogenic mutations for tooth agenesis by whole-exome sequencing.

Subjects And Methods: Ten Chinese families including five families with ectodermal dysplasia (syndromic tooth agenesis) and five families with selective tooth agenesis were included. Whole-exome sequencing was performed using genomic DNA. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/odi.13002
Publisher Site
http://dx.doi.org/10.1111/odi.13002DOI Listing
March 2019
8 Reads

A -Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia.

G3 (Bethesda) 2019 01 9;9(1):95-104. Epub 2019 Jan 9.

Institute of Animal Breeding and Genetics

In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial congenital hypotrichosis, missing and malformed teeth and a lack of eccrine sweat glands. Clinical signs including dental radiographs and histopathological findings were consistent with ectodermal dysplasia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1534/g3.118.200814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325906PMC
January 2019
1 Read

Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.

Prenat Diagn 2018 Nov 5. Epub 2018 Nov 5.

Center for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany.

Objective: In X-linked hypohidrotic ectodermal dysplasia (XLHED), dysfunction of ectodysplasin A1 (EDA1) due to EDA mutations results in malformation of hair, teeth, and sweat glands. Hypohidrosis, which can cause life-threatening hyperthermia, is amenable to intrauterine therapy with recombinant EDA1. This study aimed at evaluating tooth germ sonography as a noninvasive means to identify affected fetuses in pregnant carrier women. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5384
Publisher Site
http://dx.doi.org/10.1002/pd.5384DOI Listing
November 2018
4 Reads

KDF1 is a novel candidate gene of non-syndromic tooth agenesis.

Arch Oral Biol 2019 Jan 23;97:131-136. Epub 2018 Oct 23.

Guanghua School of Stomatology, Hospital of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-Sen University, Guangzhou, 510055, China. Electronic address:

Objective: Tooth agenesis (TA) is featured by congenital loss of teeth, and can be divided into two subtypes, non-syndromic TA (NSTA) and syndromic TA (STA). Although 12 candidate genes of NSTA have been revealed, the genetic basis of NSTA needs to be further studied. We noticed an overlap of candidate genes between NSTA and STA, and hypothesized that some candidate genes of STA may be new candidate genes of NSTA. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00039969183051
Publisher Site
http://dx.doi.org/10.1016/j.archoralbio.2018.10.025DOI Listing
January 2019
3 Reads

The effect of ectodermal dysplasia on volume and surface area of maxillary sinus.

Eur Arch Otorhinolaryngol 2018 Dec 20;275(12):2991-2996. Epub 2018 Oct 20.

Private Practice, Kocaeli, Turkey.

Purpose: Ectodermal dysplasia (ED) is a congenital syndrome characterized by abnormal development of ectodermal structures, such as skin, hair, nails, teeth, or salivary glands. Patients with ED demonstrate craniofacial dysmorphology, midfacial hypoplasia and hypodontia. The aim of this study is to evaluate volume and surface area of maxillary sinus and craniofacial structures in patients with ectodermal dysplasia (ED) using cone-beam computed tomography (CBCT) images. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00405-018-5177-z
Publisher Site
http://dx.doi.org/10.1007/s00405-018-5177-zDOI Listing
December 2018
9 Reads

Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma.

Pediatr Neurosurg 2018 18;53(6):421-426. Epub 2018 Oct 18.

Interventional Neuroradiology, Hospital Pequeno Principe, Curitiba, Brazil.

PHACE(S) syndrome is a neurocutaneous syndrome with a wide array of presentations. The most known and present trait is facial hemangioma > 5 cm. The name is an acronym for Posterior fossa malformations, infantile Hemangiomas, Arterial anomalies, aortic Coarctation, Eye abnormalities, and middle-line malformations of the Sternum. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/493491
Publisher Site
http://dx.doi.org/10.1159/000493491DOI Listing
January 2019
17 Reads

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation.

Minerva Pediatr 2018 10;70(5):493-495

Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.

View Article

Download full-text PDF

Source
https://www.minervamedica.it/index2.php?show=R15Y2018N05A049
Publisher Site
http://dx.doi.org/10.23736/S0026-4946.17.04817-4DOI Listing
October 2018
13 Reads

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

Am J Med Genet A 2018 Nov 5;176(11):2451-2455. Epub 2018 Oct 5.

Division of Dermatology, Children's National Health System, Washington, District of Columbia.

Basan syndrome is an autosomal dominant ectodermal dysplasia (ED) with congenital adermatoglyphia, transient neonatal acral bullae, and congenital facial milia. Autosomal dominant adermatoglyphia (ADG) is characterized as adermatoglyphia with hypohidrosis. Recently mutations in the skin-specific isoform of the gene SMARCAD1 have been found in both syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40485DOI Listing
November 2018
6 Reads

Dental anomalies and lesions in Eastern Atlantic harbor seals, Phoca vitulina vitulina (Carnivora, Phocidae), from the German North Sea.

PLoS One 2018 3;13(10):e0204079. Epub 2018 Oct 3.

Department of Biology, University of Hildesheim, Hildesheim, Germany.

Skulls of 1,901 Eastern Atlantic harbor seals (Phoca vitulina vitulina) were systematically studied for externally visible dental anomalies and lesions. The sample comprised 927 males and 974 female individuals, with age at death ranging between 1 week and 25 years. Most of the skulls originated from animals collected in 1988, when the population suffered from a mass mortality event caused by the phocine distemper virus (PDV). Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0204079PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169878PMC
October 2018
4 Reads

A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia.

Anim Genet 2018 Dec 2;49(6):651-654. Epub 2018 Oct 2.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disease characterized by hypoplasia or absence of hair, teeth and sweat glands. The EDA gene, located on the X chromosome, encodes the type II transmembrane protein ectodysplasin A. Variants in the EDA gene can lead to XLHED in humans, mice, cattle and dogs. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/age.12729
Publisher Site
http://dx.doi.org/10.1111/age.12729DOI Listing
December 2018
7 Reads

High Rates of Community and Hospital Acquired Infections in Patients with Cellular Immunodeficiencies.

J Clin Immunol 2018 Oct 29;38(7):804-809. Epub 2018 Sep 29.

Division of Infectious Diseases, Children's National Health System, Washington, DC, 20010, USA.

Purpose: Patients with primary immunodeficiency diseases (PID) are perceived to be at high risk for acquiring as well as developing complications from infections. There is little data describing the infection type and frequency these patients may acquire in the community or during hospital admissions. Data is critically needed in order to inform best practices on how to protect these vulnerable patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0552-5DOI Listing
October 2018
14 Reads

Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency.

J Microbiol Immunol Infect 2018 Aug 31. Epub 2018 Aug 31.

Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmii.2018.04.009DOI Listing
August 2018
9 Reads

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Eur J Med Genet 2018 Sep 18. Epub 2018 Sep 18.

Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France.

A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid scrotum and right cryptorchidism associated with signs of ectodermal dysplasia: scalp hypopigmentation, thick and frizzy hair, absence of eyelashes, poorly developed nails and a thin skin with prominent superficial veins. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183005
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.09.006DOI Listing
September 2018
6 Reads

Congenital diseases caused by defective -glycosylation of Notch receptors.

Nagoya J Med Sci 2018 Aug;80(3):299-307

Department of Molecular & Cellular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

The Notch signaling pathway is highly conserved and essential for animal development. It is required for cell differentiation, survival, and proliferation. Regulation of Notch signaling is a crucial process for human health. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18999/nagjms.80.3.299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125653PMC
August 2018
12 Reads

The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome.

Eur J Paediatr Neurol 2018 Nov 1;22(6):900-909. Epub 2018 Sep 1.

Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv-Aviv, Israel.

Objectives: To describe a unique posterior fossa neuroimaging characteristic of prenatal PHACES syndrome (PS): unilateral cerebellar hypoplasia (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricle.

Methods: The registries of seven prenatal diagnosis centers were searched for cases with PF findings and a postnatal diagnosis of PS. All records were evaluated for ultrasound and MRI findings and the postnatal outcome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2018.08.006DOI Listing
November 2018
3 Reads

Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report.

Arq Bras Oftalmol 2018 Sep-Oct;81(5):440-442

Fundación Barceló, Buenos Aires, Argentina.

We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly. Read More

View Article

Download full-text PDF

Source
http://www.gnresearch.org/doi/10.5935/0004-2749.20180085
Publisher Site
http://dx.doi.org/10.5935/0004-2749.20180085DOI Listing
January 2018
15 Reads

The impact of marine recreational fishing on key fish stocks in European waters.

PLoS One 2018 12;13(9):e0201666. Epub 2018 Sep 12.

Thünen Institute of Baltic Sea Fisheries (Thünen-OF), Rostock, Germany.

Marine recreational fishing (MRF) has been shown to substantially contribute to fishing mortality of marine fish. However, European MRF catches are only quantified for a small number of stocks, so it is unclear whether a significant part of fishing mortality is excluded from stock assessments. This study estimated: (i) European MRF removals, which were defined as landings plus dead releases; and (ii) impact at stock level by comparing the percentage contribution to total removal by MRF and commercial fishing. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201666PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135385PMC
February 2019
9 Reads

Shunt Surgery for Neurocutaneous Melanosis with Hydrocephalus: Case Report and Review of the Literature.

World Neurosurg 2018 Dec 8;120:583-589.e3. Epub 2018 Sep 8.

Section of Neurosurgery, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Philippines. Electronic address:

Background: Neurocutaneous melanosis is a rare phakomatosis characterized by large or multiple pigmented nevi and melanosis of the leptomeninges. It is often complicated by hydrocephalus due to melanotic deposits interfering with cerebrospinal fluid reabsorption in the basal cisterns or causing foraminal or aqueductal obstruction. In 10% of cases, it will be associated with the Dandy-Walker complex. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.wneu.2018.09.002DOI Listing
December 2018
9 Reads

Dermatoscopy of Common Lesions in Pediatric Dermatology.

Dermatol Clin 2018 Oct 16;36(4):463-472. Epub 2018 Aug 16.

Dermatology Clinic, University of Catania, Via S. Sofia 78, Catania 95123, Italy.

The use of dermatoscopy to assist in the diagnosis of a variety of proliferative, pigmentary, inflammatory, infectious, congenital, and genetic cutaneous and skin appendage disorders is constantly increasing, as it is effective, affordable, noninvasive, and quick to perform. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S07338635183108
Publisher Site
http://dx.doi.org/10.1016/j.det.2018.05.012DOI Listing
October 2018
16 Reads
1.434 Impact Factor

Trichoscopy in Hair Shaft Disorders.

Dermatol Clin 2018 Oct 16;36(4):421-430. Epub 2018 Aug 16.

Department of Dermatology, Medical University of Warsaw, Pawinskiego 5, 02-106, Warszawa, Poland.

Trichoscopy allows analyzing the structure and size of growing hair shafts in their natural environment in children and adults. The method replaces light microscopy, which requires pulling of multiple hairs for investigation. In monilethrix, trichoscopy shows uniform elliptical nodosities with intermittent constrictions. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S07338635183108
Publisher Site
http://dx.doi.org/10.1016/j.det.2018.05.009DOI Listing
October 2018
22 Reads

Demographical Profile and Spectrum of Multiple Malignancies in Children and Adults with Neurocutaneous Disorders.

Anticancer Res 2018 Sep;38(9):5453-5457

Department of Pediatric Hematology and Oncology, Nicolaus Copernicus University Torun, Jurasz University Hospital, Collegium Medicum, Bydgoszcz, Poland

Background/aim: Neurocutaneous disorders, also referred as phacomatoses, are congenital disorders manifesting at different ages with central nervous system and cutaneous abnormalities. Analysis of the demographic and clinical profile of patients with phacomatoses in the context of the incidence and spectrum of malignancy.

Materials And Methods: This is a retrospective analysis of 20 years of data in a single-center study in Poland. Read More

View Article

Download full-text PDF

Source
http://ar.iiarjournals.org/lookup/doi/10.21873/anticanres.12
Publisher Site
http://dx.doi.org/10.21873/anticanres.12877DOI Listing
September 2018
16 Reads

Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study.

Clin Genet 2018 Nov 7;94(5):484-486. Epub 2018 Sep 7.

Institute for Research and Development, Duy Tan University, Danang, Vietnam.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/cge.13435
Publisher Site
http://dx.doi.org/10.1111/cge.13435DOI Listing
November 2018
4 Reads
3.931 Impact Factor

Polymer-Infiltrated-Ceramic-Network, CAD/CAM Restorations for Oral Rehabilitation of Pediatric Patients with X-Linked Ectodermal Dysplasia.

Int J Prosthodont 2018 November/December;31(6):610–612. Epub 2018 Sep 6.

Functional and esthetic oral rehabilitation of young patients affected by ectodermal dysplasia is traditionally performed with direct composite restorations, which encounter various limitations. However, recent advances in computer-aided design/computer-assisted manufacturing (CAD/CAM) composites have led to the introduction of high-performance materials. In the present case report, a 9-year-old patient was treated with 20 CAD/CAM partial and peripheral restorations in polymer-infiltrated-ceramic-network material to restore deciduous and permanent teeth. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11607/ijp.5904DOI Listing
September 2018
1 Read