6,144 results match your criteria Aplasia Cutis Congenita


Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model.

J Pharmacol Exp Ther 2019 Apr 18. Epub 2019 Apr 18.

University of Pennsylvania;

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by defects in the EDA gene that inactivate the function of ectodysplasin A (EDA1). This leads to abnormal development of eccrine glands, hair follicles and teeth, and to frequent respiratory infections. Previous studies in the naturally occurring dog model demonstrated partial prevention of the XLHED phenotype by postnatal administration of recombinant ectodysplasin (Fc:EDA1; EDI200). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1124/jpet.118.256040DOI Listing

Fetishistic transvestism with ectodermal dysplasia: A case report.

Indian J Psychiatry 2019 Mar-Apr;61(2):217-218

Department of Psychiatry, Dr. S N Medical College, Jodhpur, Rajasthan, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/psychiatry.IndianJPsychiatry_71_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425795PMC

Barber Say Syndrome (A New Case Report).

Indian Dermatol Online J 2019 Mar-Apr;10(2):158-161

Department of Family Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. A literature review showed less than 20 previously reported cases of Barber Say syndrome. This presentation reports a one day old female with syndrome face, low hairline, coarse face, macrostomia, thin upper lip, bilateral ectropion and hypertelorism, hypertrichosis, senile skin appearance, hypoplastic nipples and one area of mild skin atrophy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/idoj.IDOJ_68_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434745PMC
April 2019
2 Reads

Dermatopathia Pigmentosa Reticularis.

Indian J Dermatol 2019 Mar-Apr;64(2):149-151

Department of Dermatology, Medical College, Kolkata, West Bengal, India.

Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia that presents with a triad of reticulate hyperpigmentation, nonscarring alopecia, and nail dystrophy. We report herein a case of a 23-year-old male presenting with the characteristic triad associated with anhidrosis and palmoplantar keratoderma. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijd.IJD_401_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440173PMC

Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

Indian J Dermatol 2019 Mar-Apr;64(2):143-145

Department of Medical Genetics, Institute of Genomics and Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms - hypohidrotic and hidrotic. Clouston syndrome is a hidrotic ectodermal dysplasia characterized by a triad of generalized hypotrichosis, palmoplantar hyperkeratosis, and nail dystrophy. This paper reports a large Indian family with Clouston syndrome but with the absence of palmoplantar keratoderma, one of the features of the typical triad, thus representing phenotypic heterogeneity, in spite of the presence of a common known mutation in GJB6 gene (p. Read More

View Article

Download full-text PDF

Source
http://www.e-ijd.org/text.asp?2019/64/2/143/254163
Publisher Site
http://dx.doi.org/10.4103/ijd.IJD_510_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440177PMC
April 2019
1 Read

Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency.

J Clin Immunol 2019 Apr 13. Epub 2019 Apr 13.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-019-00626-3
Publisher Site
http://dx.doi.org/10.1007/s10875-019-00626-3DOI Listing

A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia.

Br J Dermatol 2019 Apr 12. Epub 2019 Apr 12.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

ectodermal dysplasia (ED) is a group of hereditary disorders affecting the development of ectodermal organs. There are more than 200 types of ED caused by the mutations in approximately 50 genes. Nonetheless, the mutations in some genes have been found in only one family affected with ED. Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/bjd.18007
Publisher Site
http://dx.doi.org/10.1111/bjd.18007DOI Listing
April 2019
1 Read

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.

Cytogenet Genome Res 2019 Apr 12. Epub 2019 Apr 12.

Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in an X-linked, autosomal dominant, or autosomal recessive pattern and caused by the pathogenic variants in 4 genes: EDA, EDAR, EDARADD, and WNT10A. The aim of the present study was to perform molecular screening of these 4 genes in a cohort of Turkish individuals diagnosed with HED/EDA. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/499325
Publisher Site
http://dx.doi.org/10.1159/000499325DOI Listing
April 2019
2 Reads

Type V aplasia cutis congenita with fetus papyraceus.

JAAD Case Rep 2019 Apr 25;5(4):303-305. Epub 2019 Mar 25.

Olansky Dermatology Associates, Atlanta, Georgia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdcr.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434178PMC

Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.

Clin Immunol 2019 Apr 3;203:23-27. Epub 2019 Apr 3.

Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious diseases, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam UMC, University of Amsterdam, Department of Experimental Immunology, Amsterdam Infection & Immunity Institute, Meibergdreef 9, Amsterdam, The Netherlands. Electronic address:

Genetic studies are identifying an increasing number of monogenic causes of Common Variable Immunodeficiency (CVID). Pathogenic variants in the C-terminus of NFKB2 have been identified in the subset of CVID patients whose immunodeficiency is associated with ectodermal dysplasia and central adrenal insufficiency. We describe 2 unrelated CVID pedigrees with 4 cases of pathogenic stop gain variants (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2019.03.010DOI Listing
April 2019
2 Reads

Congenital Laser-Induced Burns: A Potential Complication after Laser Photocoagulation in Monochorionic Twin Pregnancy.

Fetal Pediatr Pathol 2019 Apr 3:1-5. Epub 2019 Apr 3.

a Department of Neonatology , Hospital 12 de Octubre, Biomedical Research Institute i + 12 , Madrid , Spain.

Background: Fetoscopic laser photocoagulation can directly injure fetal skin and may at birth resemble aplasia cutis congenita (ACC).

Case Report: A twin monochorionic pregnancy was complicated by twin-to-twin transfusion syndrome requiring in utero laser photocoagulation, resulting in the death of one twin. After birth, the viable baby presented skin lesions in both legs that were congruent with laser-induced burns. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15513815.2019.1588441DOI Listing
April 2019
1 Read

Hypohydrotic Ectodermal Dysplasia in an Indian Family.

J Coll Physicians Surg Pak 2019 Apr;29(4):381-383

Department of Oral Medicine and Radiology, Peoples Dental Academy, Bhopal, India.

Hereditary ectodermal dysplasia (HED) is a rare genetic disorder chiefly affecting ectodermally derived structures including hair, nails, sweat glands etc. with pathognomic manifestations such as hypotrichosis, hypohidrosis, and hypodontia. Hypohidrotic ectodermal dysplaisa, being the most frequently encountered subtype and HED, being the rare subtype. Read More

View Article

Download full-text PDF

Source
https://www.jcpsp.pk/archive/2019/Apr2019/21.pdf
Publisher Site
http://dx.doi.org/10.29271/jcpsp.2019.04.381DOI Listing
April 2019
4 Reads

Christ-Siemens-Touraine Syndrome: A Rare Case Report.

J Pharm Bioallied Sci 2019 Jan-Mar;11(1):102-104

Anwi's Multispeciality Dental Clinic, Calicut, Kerala, India.

Christ-Siemens-Touraine syndrome/hypohidrotic ectodermal dysplasia (HED) is a heterogeneous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as hair, tooth, nail, and sweat glands. To date, more than 192 distinct disorders have been described. Here we present a case of 19-year-old female patient that manifested with HED (Christ-Siemens-Touraine syndrome). Read More

View Article

Download full-text PDF

Source
http://www.jpbsonline.org/text.asp?2019/11/1/102/252091
Publisher Site
http://dx.doi.org/10.4103/jpbs.JPBS_36_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394158PMC
March 2019
3 Reads

Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.

Gene 2019 Mar 19;700:65-69. Epub 2019 Mar 19.

Medical Genetics Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China. Electronic address:

Introduction: Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects. DOCK6 (Dedicator of cytokinesis 6) is one of the six identified AOS genes.

Methods: We performed targeted next-generation sequencing (NGS) of a child with an AOS phenotype. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03781119193027
Publisher Site
http://dx.doi.org/10.1016/j.gene.2019.03.023DOI Listing
March 2019
2 Reads

Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction.

Orbit 2019 Mar 20:1-4. Epub 2019 Mar 20.

b Govindram Seksaria Institute of Dacryology , L. V. Prasad Eye Institute , Hyderabad , India.

Purpose: To evaluate the outcomes of powered endoscopic dacryocystorhinostomy (DCR) in syndromic individuals with congenital nasolacrimal duct obstruction (CNLDO).

Methods: A retrospective multicenter case series of patients who required a primary powered endoscopic DCR for refractory CNLDO associated with syndromes or congenital craniofacial abnormalities was performed. A minimum follow-up of more than 6 months was considered for final analysis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/01676830.2019.1582072DOI Listing

Immediate Vacuum Formed Overdenture for a Pediatric Patient with Ectodermal Dysplasia.

J Dent Child (Chic) 2018 Sep;85(3):139-142

Assistant professor, Department of Pediatric Dentistry, at The Dental College of Georgia at Augusta University, Augusta, Georgia, in the USA.

Restoring the dental and facial esthetics in a growing patient with ectodermal dysplasia (ED) is fundamental to improve psychosocial issues, esthetics, and function. The purpose of this clinical report was to present a simple, fast, and cost-effective technique to re-establish a pleasant smile of an eight-year-old male patient with hypohydrotic ED. A vacuum-formed overdenture prosthesis is described, which is recommended as an immediate interim restorative treatment in the maxillary arch with excellent stability and retention. Read More

View Article

Download full-text PDF

Source
September 2018

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.

J Hum Genet 2019 May 6;64(5):499-504. Epub 2019 Mar 6.

Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.

The genotype-phenotype correlation in BRAF variant in cardio-facio-cutaneous (CFC) syndrome is not clearly defined. Here we report a case with a severe clinical phenotype and a novel BRAF variant, p.Leu485del. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-019-0579-3DOI Listing
May 2019
2 Reads

TNF receptor signalling in autoinflammatory diseases.

Int Immunol 2019 Mar 6. Epub 2019 Mar 6.

Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM).

Autoinflammatory syndromes are a group of disorders characterised by recurring episodes of inflammation as a result of specific defects in the innate immune system. Patients with autoinflammatory disease present with recurrent outbreaks of chronic systemic inflammation that are mediated by innate immune cells, for the most part. A number of these diseases arise from defects in the tumour necrosis factor (TNF) receptor signalling pathway leading to elevated levels of inflammatory cytokines. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/intimm/dxz024DOI Listing
March 2019
1 Read

Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.

J Dermatol 2019 Feb 27. Epub 2019 Feb 27.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of AEC syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.14837DOI Listing
February 2019
2 Reads

Morphology of the Meibomian gland evaluated using meibography in patients with hypohidrotic ectodermal dysplasia.

Arch Soc Esp Oftalmol 2019 Apr 19;94(4):165-170. Epub 2019 Feb 19.

Oftalmología, Hospital Universitario Reina Sofía de Murcia, Murcia, España.

Introduction: Hypohidrotic ectodermal dysplasia (HED) is a rare disease that results from the abnormal development of the ectodermal germ layer in early embryogenesis. In these patients, hypoplasia of Meibomian glands is one of the most frequent ophthalmological manifestations. The main aim of this study is to evaluate the usefulness of meibography for the morphology of Meibomian glands in a group of patients with HED, and to compare it with a control group. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.oftal.2018.12.011DOI Listing

Anatomical analysis of zygomatic bone in ectodermal dysplasia patients with oligodontia.

Clin Implant Dent Relat Res 2019 Apr 21;21(2):310-316. Epub 2019 Feb 21.

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

Background: Abnormalities of some facial bones derived from the ectomesenchyme have been found in ectodermal dysplasia (ED) patients, but the characteristics of the zygoma are unknown.

Purpose: Comparison between ED patients and normal individuals to understand the anatomical features of the zygoma in ED patients.

Materials And Methods: Thirty patients diagnosed with ED based on clinical features and/or gene sequence tests and 80 normal individuals were recruited from 2016 to 2018. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cid.12731DOI Listing

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Clin Genet 2019 May 19;95(5):601-606. Epub 2019 Mar 19.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

The GTPBP2 gene encodes a guanosine triphosphate (GTP)-binding protein of unknown function. Biallelic loss-of-function variants in the GTPBP2 gene have been previously reported in association with a neuro-ectodermal clinical presentation in six individuals from four unrelated families. Here, we provide detailed descriptions of three additional individuals from two unrelated families in the context of the previous literature. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13523DOI Listing

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
2 Reads

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
3 Reads

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

Spec Care Dentist 2019 Mar 5;39(2):236-240. 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

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421567PMC
March 2019
3 Reads

Aplasia cutis congénita con defecto óseo subyacente: evolución favorable tras manejo conservador.

Dermatol Online J 2018 Sep 15;24(9). Epub 2018 Sep 15.

Servicio de Dermatología, Hospital Universitario de Cabueñes, Gijón, España.

La aplasia cutis congénita es una rara alteración caracterizada por la ausencia de áreas localizadas de piel en el momento del nacimiento. Suele manifestarse como una lesión solitaria localizada principalmente en el cuero cabelludo, que puede estar asociada con otras malformaciones congénitas. Las complicaciones pueden ser fatales, por lo que es necesario un tratamiento individualizado que vendrá determinado por el tamaño, localización y grado de afectación de estructuras subyacentes. Read More

View Article

Download full-text PDF

Source
September 2018

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
6 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
5 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
1 Read

Uncommon Neonatal Skin Lesions.

Pediatr Ann 2019 Jan;48(1):e30-e35

Certain rashes and cutaneous lesions in a newborn can be clues to more concerning diseases and conditions if recognized and evaluated promptly. Langerhans cell histiocytosis, cutaneous forms of cancer (such as leukemia cutis, neuroblastoma, and rhabdomyosarcoma), developmental abnormalities such as neural tube or spinal dysraphism, and aplasia cutis congenita, nutritional deficiency, and immunodeficiency all have a range of cutaneous findings that will be reviewed herein to guide diagnosis and management. [Pediatr Ann. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/19382359-20181212-02DOI Listing
January 2019
6 Reads

[Adams-Oliver syndrome and cutis marmorata telangiectatica congenita].

Ann Dermatol Venereol 2019 Mar 9;146(3):223-225. Epub 2019 Jan 9.

Service de néonatologie et réanimation néonatale, CHU Hassan II, Fès, Maroc.

Adams-Oliver syndrome (AOS) is a congenital condition characterized by congenital aplasia cutis and transverse limb defects. Herein we report a case of an infant with severe intra-uterine growth restriction presenting AOS associated with cutis marmorata telangiectatica but with no other organ complications. The outcome was complicated by hemorrhagic and septic shock, which resulted in the death of the infant in a setting of multiorgan failure. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annder.2018.11.009DOI Listing
March 2019
5 Reads

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
9 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
3 Reads

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
13 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
15 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
13 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
3 Reads

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
11 Reads

Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene.

Fetal Pediatr Pathol 2019 Feb 7;38(1):72-79. Epub 2018 Dec 7.

c Department of Dermatology , Pusan National University Yangsan Hospital , Yangsan , Republic of Korea.

Introduction: Bart's syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently.

Case Report: A full-term female neonate had well-demarcated absence of skin on both legs at birth, with blisters and erosive patches developing immediately after birth. Electron microscopy showed blister formation under the lamina densa layer. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15513815.2018.1543370DOI Listing
February 2019
3 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 2019 Apr;28(4):e58-e60

Glaucoma and Anterior Segment, Dr Shroff's Charity Eye Hospital, New Delhi, Delhi, India.

Ectodermal dysplasia (ED) 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 ED, the most common being hypohidrotic ED. 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
April 2019
24 Reads

Combined flecainide and sotalol therapy for multifocal atrial tachycardia in cardio-facio-cutaneous syndrome.

Pediatr Int 2018 Nov;60(11):1036-1037

Department of Pediatric Cardiology, Okinawa Children's Medical Center, Okinawa, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ped.13695DOI Listing
November 2018
5 Reads