6,440 results match your criteria Aplasia Cutis Congenita


[Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome].

Zhonghua Shao Shang Za Zhi 2020 Jun;36(6):500-502

Institute of Burns, Tongren Hospital of Wuhan University & Wuhan Third Hospital, Wuhan 430060, China.

On August 6, 2015, a male infant with ectodermal dysplasia/skin fragility syndrome at 6 hours of birth was admitted to the Burn Department of Tongren Hospital of Wuhan University & Wuhan Third Hospital. The ulcerous skin tissue in thoracic area was harvested. The histopathological change of wound tissue was observed with hematoxylin-eosin staining. Read More

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http://dx.doi.org/10.3760/cma.j.cn501120-20190329-00148DOI Listing

Zygomatic Implant Survival in 9 Ectodermal Dysplasia Patients with 3.5 to 7-year Follow Up.

Oral Dis 2020 Jun 24. Epub 2020 Jun 24.

IRCCS Orthopedic Institute Galeazzi, Via Riccardo Galeazzi, 4, 20161, Milano, Italy.

Objective: Ectodermal dysplasia syndrome is a complex group of genetic disorders identified by the abnormal development of the ectodermal structures. The aim of this retrospective clinical case series report was to evaluate the outcomes of the ectodermal dysplasia syndrome patients that underwent zygomatic implant surgery.

Materials And Methods: A total of 9 ectodermal dysplasia syndrome patients aged between 21 to 56 years (mean age 36. Read More

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http://dx.doi.org/10.1111/odi.13505DOI Listing

TYPE V APLASIA CUTIS CONGENITA IN A PRETERM NEWBORN SUCCESSFULLY RESOLVED.

Dermatol Ther 2020 Jun 22:e13888. Epub 2020 Jun 22.

Department of Dermatology, Clinical University Hospital of Valencia, Valencia, Spain.

Aplasia cutis congenita (ACC) associated with fetus papyraceus is a rare subtype of aplasia cutis categorized as type V in Frieden's classification. It is characterized by stellate lesions in a symmetrical distribution over the trunk and proximal extremities. Conservative treatment is recommended, but there is not a well-defined therapeutic protocol. Read More

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http://dx.doi.org/10.1111/dth.13888DOI Listing

Disruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1.

Development 2020 Jun 18. Epub 2020 Jun 18.

Departments of Pathology & Laboratory Medicine and Biology, Lineberger Comprehensive Cancer Center, The University of North Carolina, Chapel Hill, NC, USA

Cleft palate (CP), one of the most common congenital diseases, arises from failures in secondary palatogenesis during embryonic development. Several human genetic syndromes featuring CP and ectodermal dysplasia have been linked to mutations in genes regulating cell-cell adhesion, yet mouse models have largely failed to recapitulate these findings. Here, we utilize lentiviral-mediated genetic approaches in mice to provide the first direct evidence that the nectin-afadin axis is essential for proper palate shelf elevation and fusion. Read More

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http://dx.doi.org/10.1242/dev.189241DOI Listing

Heterozygous IKKβ Activation Loop Mutation Results in a Complex Immunodeficiency Syndrome.

J Allergy Clin Immunol 2020 Jun 15. Epub 2020 Jun 15.

National Jewish Health, Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, 1400 Jackson Street, Denver, CO, 80206, USA.

We identified in an adult with ectodermal dysplasia and immunodeficiency a germline, gain-of-function mutation, K171R, in IKBKB. The K171R mouse immunologic phenotype parallels human, suggesting IKBKB K171R underlies a novel immunodeficiency syndrome. Read More

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http://dx.doi.org/10.1016/j.jaci.2020.06.007DOI Listing

A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.

EBioMedicine 2020 Jun 12:102825. Epub 2020 Jun 12.

Shanghai Institute for Advanced Immunochemical Studies, ShanghaiTech University, Shanghai 201210, China; CNR Institute of Biochemistry and Cell Biology, 00015 Monterotondo, Italy; Department of Physics and Astronomy "G. Galilei", University of Padova, 35131 Padova, Italy. Electronic address:

Background: Numerous currently incurable human diseases have been causally linked to mutations in connexin (Cx) genes. In several instances, pathological mutations generate abnormally active Cx hemichannels, referred to also as "leaky" hemichannels. The goal of this study was to assay the in vivo efficacy of a potent antagonist antibody targeting Cx hemichannels. Read More

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http://dx.doi.org/10.1016/j.ebiom.2020.102825DOI Listing

Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.

J AAPOS 2020 Jun 6. Epub 2020 Jun 6.

VitreoRetinal Surgery, PA, Edina, Minnesota. Electronic address:

Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita of the scalp and transverse limb defects. Other clinical features reported in association with AOS include cardiac malformations, cutis marmorata telangiectatica congenita, prenatal complications, and ophthalmic abnormalities. Reported ophthalmic manifestations range from Peters anomaly-like findings and cataract formation to incomplete or abnormal retinal vasculature, optic nerve hypoplasia, and rod dystrophy. Read More

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http://dx.doi.org/10.1016/j.jaapos.2020.03.007DOI Listing

Classification of aplasia cutis congenita: a twenty-five-year review of cases presenting to a tertiary paediatric dermatology department.

Clin Exp Dermatol 2020 Jun 5. Epub 2020 Jun 5.

Department of Dermatology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.

Background: Aplasia cutis congenita (ACC) is a rare, congenital disorder characterized by localised or widespread absence of skin at birth with heterogeneous clinical presentation. The classification proposed by Frieden in 1986 is widely used.

Aim: To establish whether, 34 years on, the Frieden classification still meets our needs. Read More

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http://dx.doi.org/10.1111/ced.14331DOI Listing

A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.

Ophthalmic Genet 2020 Jun 5:1-4. Epub 2020 Jun 5.

Vitreoretinal Division, King Khaled Eye Specialist Hospital , Riyadh, Saudi Arabia.

Background: Adams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the , and genes have been associated with AOS. Read More

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http://dx.doi.org/10.1080/13816810.2020.1776339DOI Listing

DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW.

Int J Infect Dis 2020 Jun 2;97:117-125. Epub 2020 Jun 2.

Infectious Disease Service, Department of Pediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore; Yong Loo Lin School of Medicine, National University of Singapore, 10 Medical Drive, Singapore 117597, Singapore; Duke-National University of Singapore Medical School, 8 College Road, Singapore 169857, Singapore; Lee Kong Chian School of Medicine, National Technological University, 59 Nanyang Drive, Experimental Medicine Building, Singapore 636921, Singapore.

Background: Disseminated Bacillus Calmette-Guérin (BCG) disease (BCGosis) is a classical feature of children with primary immunodeficiency disorders (PIDs).

Methods: A 15-year retrospective review was conducted in KK Women's and Children's Hospital in Singapore, from January 2003 to October 2017.

Results: Ten patients were identified, the majority male (60. Read More

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http://dx.doi.org/10.1016/j.ijid.2020.05.117DOI Listing
June 2020
2.330 Impact Factor

Standing on the shoulder of giants: Tubed pedicle radial forearm flap reconstruction for cutis aplasia.

JPRAS Open 2020 Sep 16;25:4-7. Epub 2020 May 16.

Department of Plastic Surgery, Wythenshawe Hospital, Southmoor Rd, Wythenshawe, Manchester M23 9LT, United Kingdom.

Introduction: Aplasia cutis congenita presents a reconstructive challenge. We report the use of a tube pedicle radial forearm flap for scalp resurfacing in a patient who previously had two failed free flaps.

Case Report: A young male patient with cutis aplasia presented with a large full thickness defect of his occiput. Read More

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http://dx.doi.org/10.1016/j.jpra.2020.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260397PMC
September 2020

Lessons from One Arm Dove Hunt.

Authors:
Jacob Moss

Pediatr Dermatol 2020 Jun 1. Epub 2020 Jun 1.

MFA Experimental and Documentary Arts, Duke University, Durham, NC.

Artist, Jacob Moss's documentary photography project, One Arm Dove Hunt, explores the experiences of individuals with ectodermal dysplasia, a condition he also has. Lessons from One Arm Dove Hunt examines Jacob's own experience growing up with ectodermal dysplasia and what it's like collaborating with others with various forms of ectodermal dysplasia. Read More

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http://dx.doi.org/10.1111/pde.14197DOI Listing

A Hypohidrotic Ectodermal Dysplasia Arising From a New Mutation in a Yorkshire Terrier Dog.

Top Companion Anim Med 2020 Jun 23;39:100404. Epub 2020 Jan 23.

Graduate Program in Animal Science, School of Life Sciences. Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Brazil.

Hypohidrotic ectodermal dysplasias (HED) constitute a group of genetic disorders that affect ectodermal derivatives such as sweat glands, sebaceous glands, hair, and teeth. The vast majority of cases of HED are caused by a recessive mutation of the EDA gene located in the X chromosome. In these cases, affected individuals are usually male and have alopecia and hypotrichosis with characteristic distribution, in addition to malformed teeth and fewer than normal. Read More

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http://dx.doi.org/10.1016/j.tcam.2020.100404DOI Listing

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

Am J Med Genet A 2020 May 31. Epub 2020 May 31.

Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.

We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p. Read More

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http://dx.doi.org/10.1002/ajmg.a.61628DOI Listing

Prosthodontic Management of a Pediatric Patient with Christ-Siemens-Touraine Syndrome: A Case Report.

Int J Clin Pediatr Dent 2019 Nov-Dec;12(6):569-572

Department of Pediatric Dentistry and Orthodontic Sciences, King Khalid University, Abha, Kingdom of Saudi Arabia.

Ectodermal dysplasias (ED) are a group of rare genetic disorders characterized by congenital defects involving two or more ectodermal structures. Christ-Siemens-Touraine syndrome or hypohidrotic ectodermal dysplasia is the commonest form of ED. Hypohidrotic ectodermal dysplasia (HED) is an X-linked disorder characterized by excessively dry skin due to the absence of sweat glands (anhidrosis), sparse body hair especially on the scalp and eyebrows (hypotrichosis), brittle nails, absence of sebaceous glands (asteatosis) and malformed or absent teeth. Read More

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http://dx.doi.org/10.5005/jp-journals-10005-1697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229389PMC

Comparison of the Pharyngeal Airway Volume Between Patients With Ectodermal Dysplasia and Unaffected Controls: A Cone-Beam Computed Tomography Study.

J Oral Maxillofac Surg 2020 Apr 18. Epub 2020 Apr 18.

Program Director, Mt Sinai-Dr Edward Reiter Fellowship Program, Assistant Dean for Clinical Affairs, and Associate Professor, Department of Orthodontics, Case Western Reserve University School of Dental Medicine, Cleveland, Ohio.

Purpose: Ectodermal dysplasias (EDs) are a diverse set of hereditary conditions in which 2 or more ectodermal structures develop abnormally. The purpose of this study was to use cone-beam computed tomography (CBCT) scans to measure the pharyngeal airway volume and minimum cross-sectional area (MC) among patients with ED and compare them with healthy controls.

Patients And Methods: The pretreatment CBCT scans of 9 individuals with ED and 61 controls were analyzed. Read More

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http://dx.doi.org/10.1016/j.joms.2020.04.014DOI Listing
April 2020
1.280 Impact Factor

Aplasia cutis congenita of both knees: A new therapeutic strategy.

Arch Pediatr 2020 Jul 13;27(5):277-280. Epub 2020 May 13.

Department of Pediatric Orthopedic Surgery, Amiens University Medical Center and Jules Verne University of Picardie, 80054 Amiens cedex 1, France. Electronic address:

Aplasia cutis congenita is defined as the absence of all layers of the skin. The condition involves mainly the scalp but it can affect any area of skin on the body. A clear therapeutic strategy is not available. Read More

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http://dx.doi.org/10.1016/j.arcped.2020.05.007DOI Listing

Overactivation of the NF-κB pathway impairs molar enamel formation.

Oral Dis 2020 May 5. Epub 2020 May 5.

Division of Oral Anatomy, Faculty of Dentistry & Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.

Objective: Hypohidrotic ectodermal dysplasia (HED) is a hereditary disorder characterized by abnormal structures and functions of the ectoderm-derived organs, including teeth. HED patients exhibit a variety of dental symptoms, such as hypodontia. Although disruption of the EDA/EDAR/EDARADD/NF-κB pathway is known to be responsible for HED, it remains unclear whether this pathway is involved in the process of enamel formation. Read More

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http://dx.doi.org/10.1111/odi.13384DOI Listing

Novel homozygous deletion of the plakophilin-1 gene in a Chinese patient with ectodermal dysplasia-skin fragility syndrome.

J Dermatol 2020 Apr 28. Epub 2020 Apr 28.

Department of Dermatology, West China Hospital of Sichuan University, Chengdu, China.

Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare autosomal recessive disease characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. EDSF syndrome is caused by mutations in the PKP1 gene encoding plakophilin-1, which result in desmosomal abnormality and poor intercellular cohesion between epidermal cells. Herein, we report a novel homozygous deletion of the PKP1 gene in a Chinese boy with EDSF syndrome. Read More

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http://dx.doi.org/10.1111/1346-8138.15364DOI Listing
April 2020
2.354 Impact Factor

[Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):567-569

Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong 523120, China.

Objective: To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants.

Methods: Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.018DOI Listing

Novel EDAR mutation in tooth agenesis and variable associated features.

Eur J Med Genet 2020 Apr 20:103926. Epub 2020 Apr 20.

Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan. Electronic address:

Tooth agenesis (TA) is the developmental absence of one or more permanent teeth. We report on 10 members of a Pakistani family afflicted with TA with variable associated features inherited in autosomal dominant fashion with full penetrance. The malformation is bilateral in the majority of cases, and hallmark feature is the absence of lateral and central incisors and canines whereas first and second premolars are involved less often. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103926DOI Listing

Developmental glaucoma in a patient of ectrodactyly-ectodermal dysplasia.

Indian J Ophthalmol 2020 May;68(5):910-911

Department of Ophthalmology, Maharaja Agrasen Medical College, Agroha (Hisar), Haryana, India.

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http://dx.doi.org/10.4103/ijo.IJO_1413_19DOI Listing
May 2020
0.927 Impact Factor

Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study.

Authors:
Mary Whalen

Neonatal Netw 2020 Mar;39(2):83-91

Aplasia cutis congenita (ACC) is a rare condition that presents at birth as an absence of skin that does not usually involve underlying structures. Occurring in 3/10,000 live births, ACC is evenly distributed between males and females; the risk of ACC increases to 7 percent in consanguineous marriages. Up to 86 percent of lesions are found on the scalp in the midline vertex position. Read More

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http://dx.doi.org/10.1891/0730-0832.39.2.83DOI Listing

A first case report of hypohidrotic ectodermal dysplasia from Oman.

Clin Case Rep 2020 Apr 29;8(4):716-718. Epub 2020 Feb 29.

National Genetic Centre Royal Hospital Muscat Oman.

This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome. Read More

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http://dx.doi.org/10.1002/ccr3.2723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141724PMC

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up.

Case Rep Dent 2020 23;2020:8418725. Epub 2020 Mar 23.

Department of Pediatric and Preventive Dentistry, Saraswati Dental College, Lucknow, U.P, India.

Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that comprises the syndrome has been known to occur as a separate entity, the congregation of all three anomalies in a single individual appears to be an extremely rare occurrence, with incidence being approximately 1.5/100 million population. Read More

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http://dx.doi.org/10.1155/2020/8418725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125497PMC

Uncrossed corticospinal tracts in a patient with ichthyosis and hemiparesis: a case report.

BMC Neurol 2020 Apr 6;20(1):120. Epub 2020 Apr 6.

Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, 130021, China.

Background: Anomalies of pyramidal tract decussation are rare phenomena that can be caused by ectodermal dysplasia. Herein, we describe a patient with ichthyosis who exhibited ipsilateral hemiparesis after stroke and whose neuroimaging results showed evidence of motor control being provided by the ipsilateral motor cortex.

Case Presentation: A 24-year-old right-handed man presented with skin abnormalities, sudden-onset left hemiparesis, and dysarthria. Read More

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http://dx.doi.org/10.1186/s12883-020-01698-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132884PMC

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.

Br J Clin Pharmacol 2020 Apr 6. Epub 2020 Apr 6.

Center for Ectodermal Dysplasias, University Hospital Erlangen, Germany.

In X-linked hypohidrotic ectodermal dysplasia, the most frequent ectodermal dysplasia, an inherited deficiency of the signalling protein ectodysplasin A1 (EDA1) impairs the development of the skin and its appendages, various eccrine glands, and dentition. The severe hypohidrosis common to X-linked hypohidrotic ectodermal dysplasia patients may lead to life-threatening hyperthermia, especially during hot weather or febrile illness. Fc-EDA, an EDA1 replacement protein known to prevent the disease in newborn animals, was tested in 2 clinical trials (human adults and neonates) and additionally administered under compassionate use to 3 infants in utero. Read More

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http://dx.doi.org/10.1111/bcp.14301DOI Listing

Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.

Exp Dermatol 2020 Jun 25;29(6):520-530. Epub 2020 May 25.

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

Background: Desmosomes are intercellular cadherin-mediated adhesion complexes that anchor intermediate filaments to the cell membrane and are required for strong adhesion for tissues under mechanical stress. One specific component of desmosomes is plakophilin 1 (PKP1), which is mainly expressed in the spinous layer of the epidermis. Loss-of-function autosomal recessive mutations in PKP1 result in ectodermal dysplasia-skin fragility (EDSF) syndrome, the initial inherited Mendelian disorder of desmosomes first reported in 1997. Read More

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http://dx.doi.org/10.1111/exd.14096DOI Listing

Bullous aplasia cutis congenita: A rare presentation of a rare disease.

Dermatol Online J 2020 Feb 15;26(2). Epub 2020 Feb 15.

Department of Dermatology, Boston University, Boston, MA.

Aplasia cutis congenita (ACC) is a congenital disorder characterized by localized or generalized absence of skin. Bullous aplasia cutis congenita (BACC) is a rare clinical subtype that has few documented reports in the literature. Herein, we present a new case of BACC in which the bulla was unruptured at birth. Read More

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February 2020

Comprehensive Rehabilitation for a Permanent Tooth Anodontia Patient Using an Integrated Digital Approach.

Int J Periodontics Restorative Dent 2020 May/Jun;40(3):e111-e118

Agenesis of the permanent dentition is rare. This report describes a 20-year-old woman with 19 deciduous teeth, a single permanent mandibular premolar, and other physical traits associated with ectodermal dysplasia. The patient demonstrated esthetic parameters associated with maxillomandibular alveolar insufficiency, and her chief complaints were directed toward esthetics and the potential impact of restorative choices on function. Read More

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http://dx.doi.org/10.11607/prd.3924DOI Listing

Treatment of a Large Skull Defect and Brain Herniation in a Newborn With Adams-Oliver Syndrome.

Cureus 2020 Feb 19;12(2):e7047. Epub 2020 Feb 19.

Plastic Surgery, Maastricht University Medical Center, Maastricht, NLD.

Adams-Oliver syndrome (AOS) is a rare congenital disorder characterised by a wide variety of clinical expression ranging from the occurrence of aplasia cutis congenita (ACC), transverse limb defects, and cutis marmorata telangiectica to extensive lethal anomalies. In this article, we present the conservative and surgical management of a male newborn infant diagnosed with AOS. Surgical treatment included wound management, the removal of protruding brain, and treatment of cerebrospinal fluid (CSF) leakage. Read More

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http://dx.doi.org/10.7759/cureus.7047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7083258PMC
February 2020

A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia.

Medicine (Baltimore) 2020 Mar;99(11):e19244

Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University and Hebei Key Laboratory of Stomatology, Shijiazhuang.

A mutation in the epithelial morphogen gene ectodysplasin-A1 (EDA1) is responsible for the disorder X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia. XLHED is characterized by impaired development of hair, eccrine sweat glands, and teeth. This study aimed to identify potentially pathogenic mutations in four Chinese XLHED families. Read More

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http://dx.doi.org/10.1097/MD.0000000000019244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220389PMC

Novel In-Frame Deletion Mutation in in a Chinese Sporadic Case of Adams-Oliver Syndrome.

DNA Cell Biol 2020 May 4;39(5):783-789. Epub 2020 Mar 4.

Department of Pediatric Cardiology, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China.

Adams-Oliver syndrome (AOS) is a rare hereditary disorder characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. The etiology of AOS has remained largely unknown, although mutations in the notch receptor 1 () gene are most common genetic alteration associated with this disease. In this study, we aimed to identify the case of a 6-year-old boy, who presented with large ACC of the scalp and aortic valve stenosis, suggesting the possibility of AOS. Read More

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http://dx.doi.org/10.1089/dna.2019.5200DOI Listing

Pathogenic Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.

Front Genet 2020 4;11:21. Epub 2020 Feb 4.

Department of Dermatology of First Affiliated Hospital, First Affiliated Hospital of Anhui Medical University, Hefei, China.

Background: This study aimed to investigate the genetic causes of hypohidrotic ectodermal dysplasia (HED) in two families and elucidate the molecular pathogenesis of HED in Chinese Han patients.

Methods: Whole-exome sequencing (WES) was used to screen HED-related genes in two family members, followed by confirmatory Sanger sequencing. Bioinformatics analysis was performed for the mutations. Read More

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http://dx.doi.org/10.3389/fgene.2020.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010634PMC
February 2020

Recognizable neonatal clinical features of aplasia cutis congenita.

Ital J Pediatr 2020 Feb 18;46(1):25. Epub 2020 Feb 18.

Neonatal Intensive Care Unit, AOUP "P. Giaccone" Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Via Alfonso Giordano n. 3, 90127, Palermo, Italy.

Background: Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could not always be reported. Regardless of form and cause, therapeutic options have in common the aim to restore the deficient mechanical and immunological cutaneous protection and to limit the risk of fluid leakage or rupture of the exposed organs. We aimed to review our institutional prevalence, comorbidities, treatment and outcome of newborns with ACC. Read More

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http://dx.doi.org/10.1186/s13052-020-0789-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029587PMC
February 2020

Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene.

Eur J Med Genet 2020 Jun 11;63(6):103881. Epub 2020 Feb 11.

Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address:

Introduction: The ATP6AP1 gene encodes for ATPase H+ transporting protein. ATP6AP1 gene mutations are associated with congenital disorders of glycosylation (CDG) and can affect multiple organ system. Descriptions of postnatal phenotype include immunodeficiency, hepatopathy and cognitive impairment. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103881DOI Listing

Low risk of clinically important central nervous system dysraphism in a cohort study of 69 patients with isolated aplasia cutis congenita of the head.

Pediatr Dermatol 2020 May 13;37(3):455-460. Epub 2020 Feb 13.

Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin.

Background: Aplasia cutis congenita of the head may be associated with underlying fusion defects in the skin, soft tissues, muscle, or bone. The risk of central nervous system dysraphism in patients with aplasia cutis congenita is not known; however, knowledge of underlying structural defects can inform management considerations.

Methods: This retrospective review investigated the risk of cranial central nervous system dysraphism in children presenting with aplasia cutis congenita of the head, who presented between 1/1/2000 and 6/15/2016. Read More

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http://dx.doi.org/10.1111/pde.14117DOI Listing

Aplasia cutis congenita in Korea: single center experience and literature review.

Pediatr Int 2020 Feb 9. Epub 2020 Feb 9.

Department of Dermatology, Pusan National University Hospital, Busan, Korea.

Background: Aplasia cutis congenita (ACC) is a rare congenital malformation characterized by a localized absence of skin that most commonly affects the scalp. We performed the present study to elucidate the basic clinical data of ACC in Korea including demographics, clinical features, radiologic and therapeutic results.

Methods: Fifty nine patients (70 lesions) with ACC (35 from our department and 24 from a Koreamed database search) were enrolled. Read More

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http://dx.doi.org/10.1111/ped.14192DOI Listing
February 2020

Successful Allogeneic Stem Cell Transplantation in Nuclear Factor-Kappa B Essential Modulator Deficiency Syndrome After Treosulfan-Based Conditioning: A Case Report.

Transplant Proc 2020 Mar 6;52(2):647-652. Epub 2020 Feb 6.

Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University, Wroclaw, Poland. Electronic address:

Background: X-linked EDA-ID1 (ectodermal dysplasia, anhidrotic, with immunodeficiency 1, Online Mendelian Inheritance in Man [OMIM] 300291), or NEMO (nuclear factor kappa B essential modulator) deficiency syndrome, is caused by mutations in the IKBKG/NEMO gene. We report the case of a boy with EDA-ID1 who underwent allogeneic stem cell transplantation.

Methods: In early infancy, the patient developed an atypical, severe, initial manifestation resembling Omenn syndrome with infections, and he underwent allogeneic stem cell transplantation from an unrelated 9 of 10 HLA matched donor with a mismatch in the DQB1 allele after conditioning with treosulfan, fludarabine, thiotepa, and antithymocyte globulin (Grafalon). Read More

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http://dx.doi.org/10.1016/j.transproceed.2019.11.033DOI Listing

[Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Feb;37(2):139-141

Department of Clinical Genetics, Huaian Maternal and Child Health Care Hospital, Huai'an, Jiangsu 223002, China.

Objective: To detect potential variant in a male fetus suspected for Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC) syndrome.

Methods: Peripheral blood samples of the fetus and his parents were collected for the extraction of DNA. Whole-exome sequencing was carried out to detect potential variants. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.02.009DOI Listing
February 2020

LEF1 haploinsufficiency causes ectodermal dysplasia.

Clin Genet 2020 Apr 17;97(4):595-600. Epub 2020 Feb 17.

Department of Paediatric Dentistry, Rare Oral and Dental Competence Center, CHU Toulouse, Paul Sabatier University, Toulouse, France.

Ectodermal dysplasias are a family of genodermatoses commonly associated with variants in the ectodysplasin/NF-κB or the Wnt/β-catenin pathways. Both pathways are involved in signal transduction from ectoderm to mesenchyme during the development of ectoderm-derived structures. Wnt/β-catenin pathway requires the lymphoid enhancer-binding factor 1 (LEF1), a nuclear mediator, to activate target gene expression. Read More

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http://dx.doi.org/10.1111/cge.13714DOI Listing

Assessment of Salivary Flow Rate and Antioxidant Levels in Ectodermal Dysplasia Patients: An Study.

Contemp Clin Dent 2019 Jan-Mar;10(1):74-80

Department of Pedodontics and Preventive Dentistry, Amrita Institute of Medical Science, Kochi, Kerala, India.

Aims: To assess the salivary flow rate levels and total antioxidant levels in ectodermal dysplasia (ED) patients and to compare with normal individuals.

Materials And Methods: Unstimulated saliva sample of control and case were collected from the mouth to a pre-weighed Eppendorf tube using a Pasteur pipette for 4 min. Stimulated saliva of case and control was also collected after chewing paraffin wax for 30 s. Read More

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http://dx.doi.org/10.4103/ccd.ccd_358_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975008PMC
February 2020

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

Orphanet J Rare Dis 2020 Feb 1;15(1):36. Epub 2020 Feb 1.

Department of Pediatrics and Nephrology, Medical University of Bialystok, Bialystok, Poland.

Background: Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearance as well as skeletal, ectodermal, liver and renal anomalies. Progressive renal disease can be life-threatening in this condition. CED is a genetically heterogeneous disorder. Read More

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http://dx.doi.org/10.1186/s13023-020-1303-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995138PMC
February 2020

Improvement in the Quality of Life of a Patient of Ectodermal Dysplasia with Reconstructive Surgeries.

J Cutan Aesthet Surg 2019 Oct-Dec;12(4):244-247

Department of Dermatology, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Pune, Maharashtra, India.

Ectodermal dysplasias are a complex group of heterogenous, heritable disorders entailing two or more developmental abnormalities in ectodermal structures, such as hair, teeth, nails, and/or sweat glands. The most common subtype of these disorders is X-linked hypohidrotic that significantly impairs the quality of life of its sufferers. A 15-year-old boy, who sought the treatment for protuberant lips, saddle nose, dental anomalies, fine sparse hair, decreased sweating, intolerance to heat and photosensitivity, experienced dramatic improvement in his quality of life and confidence with aesthetic correction comprising autologous fat grafting, rhinoplasty, lip reduction, microblading and comprehensive prosthodontic and orthodontic treatments undertaken in collaboration with dental and plastic surgery departments and expert psychological counseling. Read More

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http://dx.doi.org/10.4103/JCAS.JCAS_17_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6967165PMC
February 2020

Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (AED): neuroimaging findings.

Acta Radiol 2020 Jan 30:284185120901510. Epub 2020 Jan 30.

Department of Radiology, Uludag University, School of Medicine, Bursa, Turkey.

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http://dx.doi.org/10.1177/0284185120901510DOI Listing
January 2020
1.350 Impact Factor

Clinico-Investigative Profile of Infantile Tremor Syndrome.

Authors:
Mahesh Kamate

Indian J Pediatr 2020 03 27;87(3):169-170. Epub 2020 Jan 27.

Child Development and Pediatric Neurology Division, Department of Pediatrics, KAHER's J N Medical College, Belgaum, Karnataka, 590010, India.

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http://dx.doi.org/10.1007/s12098-020-03202-5DOI Listing

The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.

Am J Med Genet A 2020 04 25;182(4):831-841. Epub 2020 Jan 25.

Kaiser Permanente Southern California, Pasadena, California.

The objective of this study was to review the published literature on X-linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis. A systematic search of English-language articles was conducted in May 2019 to identify publications with information on any of the three features of XLHED. We excluded studies with five or fewer participants, that did not specify X-linked inheritance or an EDA mutation, and discussed only management of features. Read More

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http://dx.doi.org/10.1002/ajmg.a.61493DOI Listing