5,946 results match your criteria Aplasia Cutis Congenita


Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Hum Mutat 2018 Jun 20. Epub 2018 Jun 20.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

Adams-Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. Data on the frequency and distribution of mutations in large cohorts is currently limited. Read More

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June 2018
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A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates.

J Family Med Prim Care 2018 Jan-Feb;7(1):264-266

Department of Paediatrics, Richmond University Medical Centre, Staten Island, New York, USA.

Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. The two most common forms of the disease are hypohidrotic/anhidrotic ED and hidrotic ED. They are caused by the mutations of several genes. Read More

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Defective NaCl Reabsorption in Salivary Glands of Eda-Null X-LHED Mice.

J Dent Res 2018 Jun 1:22034518782461. Epub 2018 Jun 1.

1 Secretory Mechanisms and Dysfunctions Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Mutations in the ectodysplasin A gene ( EDA) cause X-LHED (X-linked hypohidrotic ectodermal dysplasia), the most common human form of ectodermal dysplasia. Defective EDA signaling is linked to hypoplastic development of epithelial tissues, resulting in hypotrichosis, hypodontia, hypohidrosis, and xerostomia. The primary objective of the present study was to better understand the salivary gland dysfunction associated with ectodermal dysplasia using the analogous murine disorder. Read More

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Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene.

J Dermatol 2018 Jun 15. Epub 2018 Jun 15.

Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

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June 2018
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Biallelic mutations of in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.

Hum Genome Var 2018 8;5:11. Epub 2018 Jun 8.

2Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

Epidermal growth factor receptor (EGFR), a receptor that recognizes epidermal growth factor, is a very important regulator of cell proliferation and differentiation. To date, three cases of severe ectodermal dysplasia were reported to be caused by an inherited germline homozygous loss-of-function missense mutation of . This is the first report of a patient with biallelic compound heterozygous mutations in . Read More

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Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features.

J Pak Med Assoc 2018 May;68(5):793-796

Department of Pediatrics, Unit II, Civil Hospital.

Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital, sclerosing bone dysplasia that causes cranio-tubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia), osseous dysgenesis of hands and feet with diaphyseal cortical thickening of tubular bones and intellectual disability. Only a few cases of this syndrome have been reported in the literature so far. We report another case of LMHD with cranio-tubular hyperostosis, cutis laxa, wide open anterior and posterior fontannels, hypertelorism and thickening of diaphysis of tubular bones in a six months old Pakistani female patient. Read More

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May 2018
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Dental implants in patients with ectodermal dysplasia: A systematic review.

J Craniomaxillofac Surg 2018 May 21. Epub 2018 May 21.

Department of Prosthodontics, (Head: Dr. Liselott Lindh, DDS, PhD), Faculty of Odontology, Malmö University, Carl Gustafs väg 34, SE-21421, Malmö, Sweden. Electronic address:

Purpose: This study sought to assess the clinical outcome and survival rate of oral implants placed in individuals with ectodermal dysplasia (ED), based on previously published studies.

Methods: An electronic search without time restrictions was undertaken in 5 databases (PubMed/Medline, Web of Science, ScienceDirect, J-Stage, Lilacs). Descriptive statistics, Kaplan Meier estimator and implant failure probability were calculated. Read More

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Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient: A Case Report.

Intern Med 2018 Jun 6. Epub 2018 Jun 6.

Department of Internal Medicine, University of Occupational and Environmental Health, School of Medicine, JAPAN.

Cronkhite-Canada syndrome (CCS) is a rare non-inherited disease characterized by gastrointestinal polyposis, chronic diarrhea, ectodermal dysplasia, skin hyperpigmentation, hair loss and nail atrophy. Although the efficacy of corticosteroid and immunomodulatory agents has been demonstrated, no standard therapy regimen has been established, and the prognosis of CCS is still poor due to various complications. We here in report a CCS patient complicated with severe sepsis and disseminated intravascular coagulation who was successfully treated by combined modality therapies, including recombinant human soluble thrombomodulin. Read More

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[Rheumatological manifestations in primary immunodeficiency diseases].

Orv Hetil 2018 Jun;159(23):919-928

Klinikai Immunológiai, Felnőtt- és Gyermekreumatológiai Osztály, Országos Reumatológiai és Fizioterápiás Intézet Budapest, Frankel Leó út 38-40., 1023.

Primary immune deficiencies (PIDs) are characterized by quantitative and/or functional abnormalities of the immune system elements. Bone and joint abnormalities are not rare in patients with immunodeficiencies. Joint manifestations, of which arthritis is the most common, occur mainly in humoral PIDs (X-linked agammaglobulinemia, common variable immunodeficiency, and IgA deficiency) and occasionally in defects of the phagocyte system (chronic granulomatous disease, glicogen storage diseases). Read More

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June 2018
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Attenuation of Mammary Gland Dysplasia and Feeding Difficulties in Tabby Mice by Fetal Therapy.

J Mammary Gland Biol Neoplasia 2018 Jun 1. Epub 2018 Jun 1.

Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Erlangen-Nuremberg, Loschgestr. 15, 91054, Erlangen, Germany.

Hypohidrotic ectodermal dysplasias (HED) are hereditary differentiation disorders of multiple ectodermal structures including the mammary gland. The X-linked form of HED (XLHED) is caused by a lack of the secreted signaling molecule ectodysplasin A1 (EDA1) which is encoded by the gene EDA and belongs to the tumor necrosis factor (TNF) superfamily. Although male patients (hemizygous) are usually more severely affected by XLHED, heterozygous female carriers of an EDA mutation may also suffer from a variety of symptoms, in particular from abnormal development of their breasts. Read More

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The Ectodysplasin receptor EDAR acts as a tumor suppressor in melanoma by conditionally inducing cell death.

Cell Death Differ 2018 May 31. Epub 2018 May 31.

Dependence Receptors, Cancer and Development Laboratory - Equipe labellisée 'La Ligue', LabEx DEVweCAN, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Université de Lyon, Centre Léon Bérard, 69008, Lyon, France.

Ectodysplasin receptor EDAR is seen as a typical Tumor Necrosis Factor receptor (TNFR) family member known to interact with its ligand Eda-A1, and signaling mainly through the nuclear factor-kappaB (NF-κB) and c-jun N-terminal kinases pathways. Mutations in genes that encode proteins involved in EDAR transduction cascade cause anhidrotic ectodermal dysplasia. Here, we report an unexpected pro-apoptotic activity of EDAR when unbound to its ligand Eda-A1, which is independent of NF-κB pathway. Read More

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May 2018
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Hypohidrotic ectodermal dysplasia: clinical and molecular review.

Int J Dermatol 2018 May 31. Epub 2018 May 31.

Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Mexico.

Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which affects structures of ectodermal origin. Although there are autosomal recessive and dominant forms, X-linked (XL) is the most frequent form of the disease. This XL-HED phenotype is associated with mutations in the gene encoding the transmembrane protein ectodysplasin-1 (EDA1), a member of the TNFα-related signaling pathway. Read More

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May 2018
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Phenotypic Features and Salivary Parameters in Patients with Ectodermal Dysplasia: Report of Three Cases.

Case Rep Dent 2018 20;2018:2409212. Epub 2018 Mar 20.

Center of Biosciences Applied to Patients with Special Health Care Needs (CEPAPE), Institute of Science and Technology, São Jose dos Campos Campus, São Paulo State University-UNESP, São Paulo, SP, Brazil.

Ectodermal dysplasia (ED) is a rare hereditary disorder affecting the development of ectoderm-derived organs and tissues. The aim of this study was to describe phenotypic features and the therapeutic approach in dentistry among three patients with ED, correlating their data with the literature. Additionally, to investigate the salivary gland disorders and their impacts on oral microbiota, we performed salivary tests, including salivary flow rate, salivary buffering capacity, and concentration levels of mutans streptococci, lactobacilli, and yeasts. Read More

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[Focal dermal hypoplasia (Goltz syndrome)].

Bol Med Hosp Infant Mex 2018 ;75(3):178-182

Servicio de Dermatología Pediátrica. Hospital General de San Juan del Río, Querétaro, México.

Background: Focal dermal hypoplasia or Goltz syndrome is a rare X-linked dominant inherited genodermatosis, affecting both the ectodermal and mesodermal tissue. Clinical manifestations include skin abnormalities, defects in eyes, teeth, nails, mouth, soft tissues and skeleton. The diagnosis is based on clinical findings and is suspected in individuals with ectodermal abnormalities and characteristic malformations in the extremities. Read More

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January 2018

Cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis in a patient with X-linked recessive Mendelian susceptibility to mycobacterial diseases with a nuclear factor-κB essential modifier mutation.

J Dermatol 2018 May 24. Epub 2018 May 24.

Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Nuclear factor (NF)-κB essential modifier (NEMO), also known as IκB kinase subunit-γ (IKKγ), is a pivotal molecule in the NF-κB signaling pathway. Mutations of NEMO cause incontinentia pigmenti and X-linked ectodermal dysplasia with immunodeficiency. Mendelian susceptibility to mycobacterial diseases (MSMD), which confers an almost selective predisposition to mycobacterial infection, is also caused by NEMO mutations. Read More

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May 2018
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Giant Temporal Lobe Abscess in a Patient With Ectodermal Dysplasia.

Otol Neurotol 2018 Jul;39(6):e443-e447

Section of Otorhinolaryngology, Department of Surgery and Biomedical Science, Universita degli Studi di Perugia.

Objective: To present the first reported case of a temporal lobe abscess in a patient with ectodermal dysplasia (ED). To increase awareness among neurotologists of the otological manifestations and complications of ED, we describe a conservative approach in comparison with the surgical strategies to repair bony defects of the tegmen tympani.

Study Design: Clinical capsule report. Read More

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Integra-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome.

Dermatol Ther (Heidelb) 2018 Jun 18;8(2):313-321. Epub 2018 May 18.

Department and Clinic of Pediatric Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

The association of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) and aplasia cutis congenita (ACC) was described by El Shafie et al. (J Pediatr Surg 14(4):446-449, 1979) and Carmi et al. (Am J Med Genet 11:319-328, 1982). Read More

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Bart's syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1.

J Dermatol 2018 May 3. Epub 2018 May 3.

Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.

Bart's syndrome (BS), characterized by aplasia cutis congenita (ACC, also called congenital localized absence of skin) and epidermolysis bullosa (EB), is diagnosed clinically based on the disorder's unique signs and symptoms. We report the case of a family, three members of which presented with ACC at birth and one had blisters on the mucous membranes. The patient was treated conservatively with topical antibacterial ointment and wet gauze dressing. Read More

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Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

N Engl J Med 2018 04;378(17):1604-1610

From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne, Epalinges, Switzerland (S.S.-M., C.K.-Q., M.V., P.S.); and Edimer Pharmaceuticals, Andover, MA (N.K.).

Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human fetus at gestational week 26; the infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age. Read More

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April 2018
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Maxillary Bone Regeneration Based on Nanoreservoirs Functionalized -Polycaprolactone Biomembranes in a Mouse Model of Jaw Bone Lesion.

Biomed Res Int 2018 26;2018:7380389. Epub 2018 Feb 26.

INSERM, UMR 1260, Regenerative Nanomedicine (RNM), FMTS, 67000 Strasbourg, France.

Current approaches of regenerative therapies constitute strategies for bone tissue reparation and engineering, especially in the context of genetical diseases with skeletal defects. Bone regeneration using electrospun nanofibers' implant has the following objectives: bone neoformation induction with rapid healing, reduced postoperative complications, and improvement of bone tissue quality. implantation of polycaprolactone (PCL) biomembrane functionalized with BMP-2/Ibuprofen in mouse maxillary defects was followed by bone neoformation kinetics evaluation using microcomputed tomography. Read More

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February 2018
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Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review.

J Oral Rehabil 2018 Jul 9;45(7):555-570. Epub 2018 May 9.

University Hospital for Dental Prosthetics and Restorative Dentistry, Medical University of Innsbruck, Innsbruck, Austria.

Hypohidrotic ectodermal dysplasia (HED) comprises a large group of inherited disorders of ectodermal structures, characterised by hypo- or anhidrosis, hypotrichosis and hypo- or oligo- or anodontia. We aimed to systematically assess the spectrum of prosthodontic approaches with regard to the patients' age and to provide clinical implications for practicing dentists. An electronic and manual search was conducted in four databases (Medline, LIVIVO, Cochrane Library, Web of Science Core Collection). Read More

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A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.

Oral Dis 2018 Apr 20. Epub 2018 Apr 20.

Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology, Beijing, China.

Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypodontia, sparse hair, and characteristic facial features. This condition is caused by an ectodysplasin A (EDA) gene mutation. In this study, we examined two HED pedigrees and investigated the molecular genetics of the defect. Read More

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April 2018
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Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics 2018 Jun 9;49(3):217-221. Epub 2018 Apr 9.

Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy.

Adams-Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb malformations of variable severity. When neurological findings are present, patients are reported as AOS variants. We describe a child with compound heterozygosity of the gene, aplasia cutis, terminal transverse limb defects, cardiovascular impairment, intellectual disability, and brain malformations with intracranial calcifications. Read More

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June 2018
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Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

Plast Reconstr Surg Glob Open 2018 Feb 27;6(2):e1678. Epub 2018 Feb 27.

Department of Oral and Maxillofacial Surgery, Rambam Health Care Campus, Haifa, Israel; Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; and Department of Orthodontics and Cleft Palate, Rambam Health Care Campus, Haifa, Israel.

Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. Read More

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February 2018
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Open resection and laryngotracheal reconstruction in a case of subglottic hemangioma in PHACE syndrome.

Int J Pediatr Otorhinolaryngol 2018 May 9;108:186-189. Epub 2018 Mar 9.

Department of Otolaryngology, Louisiana State University Health Sciences Center and Children's Hospital New Orleans, New Orleans, LA, USA. Electronic address:

We describe a 1 month old infant with PHACE syndrome who underwent successful management of subglottic hemangioma by open resection and laryngotracheal reconstruction using a thyroid ala graft. Propranolol is typically the treatment of choice for subglottic hemangiomas however, recent reports have suggested adverse complications with the use of propranolol in children with PHACE syndrome. The child had cerebral and cervical vascular anomalies associated with her PHACE syndrome making her at an increased risk of stroke with the use of propranolol. Read More

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May 2018
3 Reads

Hypohidrotic ectodermal dysplasia with strabismus.

J Dermatol 2018 Mar 24. Epub 2018 Mar 24.

Department of Dermatology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.

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Aplasia cutis congenita: A report.

Neurol India 2018 Mar-Apr;66(2):542-543

Department of Neurosurgery, School of Medicine, Acibadem University, Istanbul, Turkey.

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March 2018
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Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature.

World Neurosurg 2018 Jun 10;114:76-83. Epub 2018 Mar 10.

Department of Neurosurgery, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China. Electronic address:

Background: To explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients to help improve diagnosis and treatment of this disease, we present a rare case of an adult patient suffering from NCM with malignant melanoma, as well as a review of the relevant Chinese and English literature.

Case Description: The patient reported here plus the patients identified in our literature review total 30 adults with NCM (20 males [66.7%] and 10 females [33. Read More

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A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia.

J Dermatol Sci 2018 Jun 21;90(3):360-363. Epub 2018 Feb 21.

Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

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June 2018
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Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia.

Br J Dermatol 2018 Mar 11. Epub 2018 Mar 11.

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

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March 2018
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A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report.

Cytogenet Genome Res 2018 10;154(3):119-121. Epub 2018 Mar 10.

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11. Read More

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Erratum: Aplasia cutis congenita: Two case reports and discussion of the literature.

Authors:

Surg Neurol Int 2018 5;9:21. Epub 2018 Feb 5.

[This corrects the article on p. 273 in vol. 8, PMID: 29204308. Read More

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February 2018

Generation of a transgene-free induced pluripotent stem cells line (UNIPDi002-A) from oral mucosa epithelial stem cells carrying the R304Q mutation in TP63 gene.

Stem Cell Res 2018 Apr 16;28:149-152. Epub 2018 Feb 16.

Department of Molecular Medicine, University of Padova, 35121 Padua, Italy.

Transgene free UNIPDi002-A-human induced pluripotent stem cell (hiPSC) line was generated by Sendai Virus Vectors reprogramming from human oral mucosal epithelial stem cells (hOMESCs) of a patient affected by ectrodactyly-ectodermal dysplasia-clefting (EEC)-syndrome, carrying a mutation in exon 8 of the TP63 gene (R304Q). The UNIPDi002-A-hiPSC line retained the mutation of the parental R304Q-hOMESCs and displayed a normal karyotype. No residual expression of transgenes nor Sendai virus vector sequences were detected in the line at passage 8. Read More

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April 2018
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Ellis-Van Creveld Syndrome in a Neonate.

J Coll Physicians Surg Pak 2018 Mar;28(3):S44-S45

Department of Paediatrics, KRL Hospital, Islamabad.

Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. Read More

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Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene.

Stem Cell Res 2018 Apr 16;28:141-144. Epub 2018 Feb 16.

Department of Molecular Medicine, University of Padova, 35121 Padua, Italy.

Oral mucosa epithelial stem cells from a patient affected by Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome carrying the R279H mutation in the TP63 gene were reprogrammed into human induced pluripotent stem cells (hiPSCs) with episomal vectors. The generated UNIPDi003-A-hPSC line retained the mutation of the parental cells and showed a normal karyotype upon long term culture. Analysis of residual transgenes expression showed that the episomal vectors were eliminated from the cell line. Read More

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April 2018
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A Novel Missense Variant in the Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.

Mol Syndromol 2017 Dec 12;9(1):22-24. Epub 2017 Aug 12.

Center for Human Genetics, University of Leuven (KU) and University Hospital Leuven (UZ), Leuven, Belgium.

Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in coding for nectin-4. Five different mutations in the gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c. Read More

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December 2017

NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.

Biochem Biophys Res Commun 2018 03 15;497(2):605-611. Epub 2018 Feb 15.

School of Molecular Cell Biology and Biotechnology, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 6997801, Israel. Electronic address:

Intracellular membrane fusion depends on the presence of specific mediators, the vesicle (v-) and the target (t-) SNAREs (Soluble N-ethylmaleimide-sensitive factor, NSF, attachment protein SNAP receptors), whose interaction brings apposing membranes to close proximity and initiates their fusion. SNAP29 (synaptosomal-associated protein 29), a t-SNARE protein, is involved in multiple fusion events during intracellular transport and affects structure of organelles such as the Golgi apparatus and focal adhesions. Mutations in SNAP29 gene result in CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma) syndrome. Read More

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March 2018
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Two EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia.

J Eur Acad Dermatol Venereol 2018 Feb 14. Epub 2018 Feb 14.

Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, 310058, China.

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February 2018
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Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.

Int J Trichology 2018 Jan-Feb;10(1):17-20

Department of Dermatology, Base Hospital Delhi Cantt, New Delhi, India.

Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome. Read More

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February 2018

Shen-Kang protects against tacrolimus-induced renal injury.

Korean J Intern Med 2018 Feb 12. Epub 2018 Feb 12.

Department of Nephrology, Yanbian University Hospital, Yanbian, China.

Background/aims: Evidence suggests that Shen-Kang (SK), a traditional Chinese herbal medicine, protects against various types of renal injury. In this study, we evaluated whether SK treatment confers renoprotection in a rat model of chronic tacrolimus (TAC) nephropathy.

Methods: Rats were treated daily with TAC (1. Read More

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February 2018
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A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

Ann Hum Genet 2018 Jul 12;82(4):232-238. Epub 2018 Feb 12.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Read More

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July 2018
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Long-Term Effects of Distraction Osteogenesis of the Mandible.

J Oral Maxillofac Surg 2018 Jan 31. Epub 2018 Jan 31.

Walter C. Guralnick Distinguished Professor and Chief, Emeritus, Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA.

Purpose: 1) To assess the fate of the permanent teeth in and adjacent to the regenerate in pediatric patients who underwent mandibular distraction osteogenesis (DO) and 2) to compare the postoperative growth of the distracted mandible with age- and gender-matched controls.

Patients And Methods: This was a retrospective cohort study of children who underwent mandibular DO during the primary or mixed dentition period and before completion of somatic growth (boys aged ≤14 years and girls aged ≤12 years) at Massachusetts General Hospital from 1996 to 2014. From the DO registry, patients were selected who had complete clinical and radiographic records and at least 1 year of follow-up. Read More

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January 2018

Five year outcomes of Boston type I keratoprosthesis as primary versus secondary penetrating corneal procedure in a matched case control study.

PLoS One 2018 6;13(2):e0192381. Epub 2018 Feb 6.

Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, United States of America.

Despite improved retention and reduced complication rates paving the way for the current expansion of applications and surge in prevalence for the Boston type I Keratoprosthesis (KPro), the most frequent indication for its implantation today remains prior graft failure. The purpose of this study is to evaluate the long-term outcomes of primary KPro and compare to secondary implantation in a matched cohort study. This study included patients who underwent KPro implantation in a single center by two surgeons between July 2008 and October 2014. Read More

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Impacted Lower Second Permanent Molars at the Ramus and Coronoid Process: A New Clinical Symptom of the WNT10A Mutation in Ectodermal Dysplasia.

Int J Clin Pediatr Dent 2017 Oct-Dec;10(4):363-368. Epub 2017 Feb 27.

Associate Professor, Department of Pediatric Dentistry, School of Dentistry Lebanese University, Beirut, Lebanon.

Aim: Hidrotic ectodermal dysplasia (ED) with the WNT10A mutation produces variable dentofacial symptoms. The aim of this study was to describe a new clinical symptom, i.e. Read More

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February 2017

[Five cases of aplasia cutis congenita].

An Pediatr (Barc) 2018 Feb 2. Epub 2018 Feb 2.

Centro Hospitalar Baixo Vouga, EPE, Aveiro, Portugal.

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February 2018

A Case of Adams-Oliver Syndrome.

Adv Biomed Res 2017 28;6:167. Epub 2017 Dec 28.

Department of Pediatrics, Iran University of Medical Sciences, Tehran, Iran.

Adams-Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Read More

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December 2017
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Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Indian J Pediatr 2018 Jan 31. Epub 2018 Jan 31.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, Kerala, 682041, India.

Objective: To describe the varying phenotypic spectrum of Focal Dermal Hypoplasia (FDH) and to emphasize the need for identifying the condition in mildly affected females which is crucial for offering a prenatal diagnosis in subsequent pregnancy owing to the risk of having a severely affected baby.

Methods: The phenotype-genotype correlation of 4 patients with FDH, over a period of 11 y from the genetic clinic in a tertiary care centre from Kerala, India was done.

Results: All four mutation proven patients were females (2 adults and 2 children). Read More

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January 2018
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Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.

PLoS Genet 2018 01 22;14(1):e1007168. Epub 2018 Jan 22.

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

Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. Read More

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January 2018
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Aplasia cutis congenita and 'vanishing twin' caused by iatrogenic fetal reduction.

Arch Dis Child Fetal Neonatal Ed 2018 May 20;103(3):F270. Epub 2018 Jan 20.

Division of Neonatology, Careggi University Hospital of Florence, Florence, Italy.

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May 2018
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