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    5817 results match your criteria Aplasia Cutis Congenita

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    A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene.
    Ophthalmic Genet 2017 Nov 15:1-4. Epub 2017 Nov 15.
    a Clinic of Ophthalmology , University Hospital Ostrava , Czech Republic.
    Introduction: Ankyloblepharon filiforme adnatum associated with Hay-Wells syndrome is a rare congenital disease caused by mutations in TP63 gene on the 3q27 chromosome. Here, we report a case of a new-born suffering from this syndrome in whom we detected a mutation c.1709T>C not previously included in the Ensemble database. Read More

    Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.
    Birth Defects Res 2017 Nov 14. Epub 2017 Nov 14.
    Department of Pediatric Nephrology and Hypertension, Faculty of Medicine, Jagiellonian University Medical College, Cracow, Poland.
    Background: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Read More

    Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
    Am J Med Genet A 2017 Nov 12. Epub 2017 Nov 12.
    Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail. Read More

    Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
    J Autoimmun 2017 Nov 9. Epub 2017 Nov 9.
    National Jewish Health, Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, 1400 Jackson Street, Denver, CO, 80206, USA. Electronic address:
    A genetic variant in the SAND domain of autoimmune regulator (AIRE), R247C, was identified in a patient with type I diabetes mellitus (T1DM) and his mother with rheumatoid arthritis. In vitro, the variant dominantly inhibited AIRE; however, typical features of Autoimmune Polyendocrinopathy Candidiasis and Ectodermal Dysplasia (APECED) were not seen in the subjects. Rather, early manifestation of autoimmunity appeared to be dependent on additional genetic factors. Read More

    NEMO Links Nuclear Factor-κB to Human Diseases.
    Trends Mol Med 2017 Nov 8. Epub 2017 Nov 8.
    Institute of Experimental Internal Medicine, Otto von Guericke University, Magdeburg, Germany. Electronic address:
    The nuclear factor (NF)-κB essential modulator (NEMO) is a key regulator in NF-κB-mediated signaling. By transmitting extracellular or intracellular signals, NEMO can control NF-κB-regulated genes. NEMO dysfunction is associated with inherited diseases such as incontinentia pigmenti (IP), ectodermal dysplasia, anhidrotic, with immunodeficiency (EDA-ID), and some cancers. Read More

    A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.
    Nat Med 2017 Nov 6. Epub 2017 Nov 6.
    Department of Neuronal Control of Metabolism, Max Planck Institute for Metabolism Research, Cologne, Germany.
    Over 40% of microRNAs (miRNAs) are located in introns of protein-coding genes, and many of these intronic miRNAs are co-regulated with their host genes. In such cases of co-regulation, the products of host genes and their intronic miRNAs can cooperate to coordinately regulate biologically important pathways. Therefore, we screened intronic miRNAs dysregulated in the livers of mouse models of obesity to identify previously uncharacterized protein-coding host genes that may contribute to the pathogenesis of obesity-associated insulin resistance and type 2 diabetes mellitus. Read More

    Master regulatory role of p63 in epidermal development and disease.
    Cell Mol Life Sci 2017 Nov 4. Epub 2017 Nov 4.
    Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, 274, Postbus 9101, 6500HB, Nijmegen, The Netherlands.
    The transcription factor p63 is a master regulator of epidermal development. Mutations in p63 give rise to human developmental diseases that often manifest epidermal defects. In this review, we summarize major p63 isoforms identified so far and p63 mutation-associated human diseases that show epidermal defects. Read More

    Clinical spectrum of woolly hair: indications for cerebral involvement.
    Ital J Pediatr 2017 Nov 2;43(1):99. Epub 2017 Nov 2.
    Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, Catania University, Via Santa Sofia 78, 95100, Catania, Italy.
    Background: Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isolated or localized wooly hair is usually benign and is not related to other disorders and/or complications. On the contrary, the generalized type may be related to disorders and syndromes affecting heart, cutis, liver and gastrointestinal organs. Read More

    Clinical factors in prosthodontic treatment of children with genetic defects.
    Adv Clin Exp Med 2017 Sep;26(6):1005-1012
    Department of Dental Prosthetics, Wroclaw Medical University, Poland.
    Background: Prosthodontic treatment of children with genetic disorders is an area that is rarely examined in the current specialist literature. Few prosthodontists will undertake treatment of such patients, who will more often be referred to an orthodontic specialist. After examining the 4 cases of children with genetic disorders described in this paper, it can be concluded that when a prosthodontist includes a few additional procedures in the treatment process, he or she can successfully help such patients. Read More

    A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita.
    J Perinatol 2017 Oct 19. Epub 2017 Oct 19.
    Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI, USA.
    Aplasia cutis congenita (ACC) is a term describing absence of skin at birth. ACC is a rare cutaneous finding, often noted with no other physical abnormalities. The etiology of ACC varies, and there are likely several causes for its development. Read More

    Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome.
    Int J Surg Case Rep 2017 Oct 10;41:68-70. Epub 2017 Oct 10.
    Division of Neonatology, Faculty of Pediatrics, University of Calgary, Calgary, Canada. Electronic address:
    Monochorionic (MC) twin pregnancies are known to carry a high risk of twin-to-twin transfusion syndrome (TTTS) that could lead to miscarriage and perinatal death. Demise of one fetus is frequently associated with co-fetal death. Fetal reduction by interstitial laser therapy is an effective procedure to prevent this outcome, but it may be associated with significant risks for both mother and fetus. Read More

    First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth.
    Clin Chim Acta 2017 Oct 14;475:78-84. Epub 2017 Oct 14.
    Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, China. Electronic address:
    Background: To investigate the etiology of X-linked hypohidrotic ectodermal dysplasia (XLHED) in a family with an inversion of the X chromosome [inv(X)(p21q13)] and to achieve a healthy birth following preimplantation genetic diagnosis (PGD).

    Methods: Next generation sequencing (NGS) and Sanger sequencing analysis were carried out to define the inversion breakpoint. Multiple displacement amplification, amplification of breakpoint junction fragments, Sanger sequencing of exon 1 of ED1, haplotyping of informative short tandem repeat markers and gender determination were performed for PGD. Read More

    Establishment of a congenital tooth agenesis related gene MSX1 knockout human embryonic stem cell lines by CRISPR-Cas9 technology.
    Stem Cell Res 2017 Oct 24;24:151-154. Epub 2017 May 24.
    CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem cell and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, Guangdong 510530, China. Electronic address:
    Human MSX1 gene is mapped to chromosome 4 and encodes a 303aa homeobox protein MSX1. MSX1 expression appears during early tooth development of vertebrate embryogenesis. Mutations in this protein are related to human tooth anomalie, cleft lip and palate and congenital ectodermal dysplasia syndrome. Read More

    A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome.
    Case Rep Dermatol 2017 May-Aug;9(2):112-118. Epub 2017 Aug 3.
    Dermatology Department, King Fahad Armed Force Hospital, Jeddah, Saudi Arabia.
    Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination. Read More

    Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
    J Clin Immunol 2017 Nov 10;37(8):801-810. Epub 2017 Oct 10.
    Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
    Hypomorphic IKBKG mutations in males are typically associated with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Some mutations cause immunodeficiency without EDA (NEMO-ID). The immunological profile associated with these NEMO-ID variants is not fully documented. Read More

    Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.
    Genes (Basel) 2017 Oct 5;8(10). Epub 2017 Oct 5.
    Guanghua School of Stomatology, Hospital of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-sen University, Guangzhou 510055, China.
    Abstract: Both X-linked hypohidrotic ectodermal dysplasia (XLHED) and non-syndromic tooth agenesis (NSTA) result in symptoms of congenital tooth loss. This study investigated genetic causes in two families with XLHED and four families with NSTA. We screened for mutations of WNT10A, EDA, EDAR, EDARADD, PAX9, MSX1, AXIN2, LRP6, and WNT10B through Sanger sequencing. Read More

    Rev Paul Pediatr 2017 Apr-Jun;35(2):234-238. Epub 2017 May 15.
    Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brasil.
    Objective: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents.

    Case Description: The patient was the third son of young and healthy parents. Read More

    WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).
    Clin Genet 2017 Oct 4. Epub 2017 Oct 4.
    Department of Pediatrics, Luigi Sacco Hospital, Università degli Studi di Milano, Milano, Italy.
    Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the impairment of at least one major ectodermal-derived structure and who had a previous negative molecular screen for ectodysplasin signaling pathway genes ED1, EDAR, and EDARADD. Fourteen WNT10A mutations were identified in 33 subjects (24. Read More

    Adult Survival in Ellis-van Creveld Syndrome with Common Atrium - A Rare Case Report.
    J Clin Diagn Res 2017 Aug 1;11(8):OD12-OD13. Epub 2017 Aug 1.
    Consultant Physician, Department of Medicine, Vinaya Hospital, Kundapur, Karnataka, India.
    Ellis-van Creveld syndrome is a rare genetic disorder, characterized by chondral dysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. Patients with this syndrome rarely survive into adulthood. The syndrome has also been rarely reported in the Indian population. Read More

    Clinical Application of Acellular Dermal Matrix in the Treatment of Aplasia Cutis Congenita on Scalp.
    J Craniofac Surg 2017 Nov;28(8):e788-e789
    *Department of Plastic and Reconstructive Surgery, College of Medicine, Soonchunhyang University, Bucheon †Department of Plastic and Reconstructive Surgery, College of Medicine, Soonchunhyang University, Gumi, Republic of Korea.
    Aplasia cutis congenita (ACC), also called cutis aplasia, is a rare congenital abnormality characterized by focal defect of the skin at birth, frequently involving the scalp, but may affect any region of the body. Approximately 80% of patients have the defect confined to the skin and generally less than 2 cm diameter, which can be managed conservatively with dressing alone. However, some patients present large cutaneous defects and aplasia of the underlying skull may also be present. Read More

    Gene screening facilitates diagnosis of complicated symptoms: A case report.
    Mol Med Rep 2017 Dec 22;16(6):7915-7922. Epub 2017 Sep 22.
    Department of Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, P.R. China.
    Gene mutation has an important role in disease pathogenesis; therefore, genetic screening is a useful tool for diagnosis. The present study screened pathogenic genes, ectodysplasin A (EDA) and lamin A/C (LMNA), in a patient with suspected syndromic hearing impairment and various other symptoms including tooth and skin abnormalities. Large‑scale sequencing of 438 deafness‑associated genes and whole‑genome sequencing was also performed. Read More

    Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
    Am J Med Genet A 2017 Nov 21;173(11):3114-3117. Epub 2017 Sep 21.
    Service de Génétique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Etienne, France.
    CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. Read More

    Erosive pustular dermatosis of the scalp after aplasia cutis congenita in a 9-year-old patient: A 5-year follow-up.
    Pediatr Dermatol 2017 Nov 19;34(6):695-696. Epub 2017 Sep 19.
    Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, University of Miami, Miami, FL, USA.
    Erosive pustular dermatosis of the scalp (EPDS) is a rare inflammatory skin disease that occurs mainly in elderly adults with a history of trauma to the scalp, but a few cases of EPDS in children have been reported. We report a rare case of EPDS after aplasia cutis congenita in a child. Read More

    Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.
    Pediatr Dermatol 2017 Sep;34(5):e249-e253
    Dell Medical School, Dell Children's Medical Center, University of Texas at Austin, Austin, Texas.
    Adams-Oliver syndrome (AOS) is a multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLDs). We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the dedicator of cytokinesis 6 (DOCK6) gene, with characteristic findings of ACC, TTLD, intracerebral periventricular calcifications, and polymicrogyria. Read More

    X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.
    Cytogenet Genome Res 2017 7;152(3):111-116. Epub 2017 Sep 7.
    Department of Pediatrics, Fondazione Policlinico San Matteo IRCCS, University of Pavia, Pavia, Italy.
    We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13. Read More

    Mutation detection and prenatal diagnosis of XLHED pedigree.
    PeerJ 2017 28;5:e3691. Epub 2017 Aug 28.
    The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, Wuhan University, Wuhan, Hubei, China.
    Background: The phenotypic characters of X -linked Hypohidrotic Ectodermal Dysplasia (XLHED) are the dysplasia of epithelial- and mesenchymal-derived organs. Ectodysplasin (EDA) is the causative gene of XLHED.

    Methods: The current study reported a large Chinese XLHED pedigree. Read More

    Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.
    Acta Dermatovenerol Croat 2017 Jul;25(2):161-163
    Assist. Prof. Tasleem Arif, MD, MBSS (Dermatology, STD AND Leprosy) Postgraduate Department of Dermatology, STDs and Leprosy Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India;
    Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy. Read More

    Incontinentia Pigmenti: A Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols.
    J Pediatr Health Care 2017 Nov - Dec;31(6):e45-e52. Epub 2017 Sep 1.
    Incontinentia pigmenti is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene (formerly known as NEMO). There are 27.6 new cases per year worldwide; 65% to 75% are sporadic mutations, and 25% to 35% are familial. Read More

    Prosthodontic Rehabilitation of an Ectodermal Dysplasia Patient with Implant Telescopic Crown Attachments.
    J Prosthodont 2017 Oct 2;26(7):622-627. Epub 2017 Sep 2.
    Department of Prosthodontics, Indiana University School of Dentistry, Indianapolis, IN.
    Telescopic crown attachments have been successfully used in completely and partially edentulous patients. This type of attachment provides retention, support, and stability with optimal hygiene for the removable dental prosthesis (RDP). With the emergence of CAD/CAM technology, telescopic crown attachments can be virtually designed and milled precisely to ensure a passive fit of the attachment parts and maximal functionality of the RDP. Read More

    Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report.
    Gen Dent 2017 Sep-Oct;65(5):72-76
    Hypohidrotic ectodermal dysplasia (HED) is a rare ectodermal disease with a systemic expression. Oral abnormalities are common and may include hypodontia and shape irregularities in the primary and permanent dentitions. Rehabilitation of the dental arches in pediatric patients with HED is a challenge because HED is a multifactorial disease that demands a complicated treatment approach and most dentists have limited experience or training in the necessary treatment. Read More

    Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
    Clin Genet 2017 Aug 30. Epub 2017 Aug 30.
    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146, Rome, Italy.
    Ellis van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes. A proportion of cases with clinical diagnosis of EvC, however, do not carry mutations in these genes. To identify the genetic cause of EvC in a cohort of mutation-negative patients, exome sequencing was undertaken in a family with three affected members, and mutation scanning of a panel of clinically and functionally relevant genes was performed in 24 additional subjects with features fitting/overlapping EvC. Read More

    TP63 mutations are frequent in cutaneous melanoma, support UV etiology, but their role in melanomagenesis is unclear.
    Oncol Rep 2017 Oct 14;38(4):1985-1994. Epub 2017 Aug 14.
    UOC Mutagenesis, Ospedale Policlinico San Martino, I-16132 Genova, Italy.
    In contrast to TP53, cancer development is rarely associated with mutations in the TP63 and TP73 genes. Recently, next generation sequencing analysis revealed that TP63 mutations are frequent, specifically in cutaneous melanomas. Cutaneous melanoma represents 4% of skin cancers but it is responsible for 80% of skin cancer related deaths. Read More

    [Morphometric analysis of maxillofacial bone in 48 patients with ectodermal dysplasia].
    Shanghai Kou Qiang Yi Xue 2017 Apr;26(2):193-197
    Department of Oral Implantology, Shanghai Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine. Shanghai 200011, China.
    Purpose: The study was performed to analyze the maxillofacial morphology of 48 patients with ectodermal dysplasia (ED) and to provide some reference for implant treatment of ED patients.

    Methods: The study collected the clinical data and lateral cephalometric radiographs of 48 patients with ED treated between June 2013 and October 2016. The patients were grouped as follows: group 1, 23 patients, at least with two kinds of ectodermal disorder, besides hypodontia; group 2, 25 patients, only with one kind of ectodermal disorder, besides hypodontia. Read More

    All-atom molecular dynamics comparison of disease-associated zinc fingers.
    J Biomol Struct Dyn 2017 Oct 3:1-14. Epub 2017 Oct 3.
    a Department of Physics , Wake Forest University , Winston-Salem , NC , USA .
    An important regulatory domain of NF-[Formula: see text]B Essential Modulator (NEMO) is a ubiquitin-binding zinc finger, with a tetrahedral CYS3HIS1 zinc-coordinating binding site. Two variations of NEMO's zinc finger are implicated in various disease states including ectodermal dysplasia and adult-onset glaucoma. To discern structural and dynamical differences between these disease states, we present results of 48-[Formula: see text]s of molecular dynamics simulations for three zinc finger systems each in two states, with and without zinc-bound and correspondingly appropriate cysteine thiol/thiolate configurations. Read More

    The Impact of the Eda Pathway on Tooth Root Development.
    J Dent Res 2017 Oct 16;96(11):1290-1297. Epub 2017 Aug 16.
    1 Department of Craniofacial Development and Stem Cell Biology, King's College London, London, UK.
    The Eda pathway ( Eda, Edar, Edaradd) plays an important role in tooth development, determining tooth number, crown shape, and enamel formation. Here we show that the Eda pathway also plays a key role in root development. Edar (the receptor) is expressed in Hertwig's epithelial root sheath (HERS) during root development, with mutant mice showing a high incidence of taurodontism: large pulp chambers lacking or showing delayed bifurcation or trifurcation of the roots. Read More

    A Practical Approach to the Diagnosis and Management of Hair Loss in Children and Adolescents.
    Front Med (Lausanne) 2017 24;4:112. Epub 2017 Jul 24.
    Department of Dermatology, Massachusetts General Hospital, Boston, MA, United States.
    Hair loss or alopecia is a common and distressing clinical complaint in the primary care setting and can arise from heterogeneous etiologies. In the pediatric population, hair loss often presents with patterns that are different from that of their adult counterparts. Given the psychosocial complications that may arise from pediatric alopecia, prompt diagnosis and management is particularly important. Read More

    Subungual Squamous Cell Carcinoma Associated with Long Standing Onychomycosis: Aggressive Surgical Approach with a Favourable Outcome.
    Open Access Maced J Med Sci 2017 Jul 21;5(4):480-482. Epub 2017 Jul 21.
    Department of Dermatology and Allergology at the Academic Teaching Hospital Dresden-Friedrichstadt in Dresden, Germany.
    Background: Tumours of the nail bed are rare. Squamous cell carcinoma is the most frequent among them. Chronic infection, chemical or physical trauma/microtrauma, genetic disorders such as congenital ectodermal dysplasia, radiation, tar, arsenic or exposure to minerals, sun exposure, immunosuppression, and previous HPV infection have all been discussed as etiologic factors. Read More

    Ectodysplasin A regulates epithelial barrier function through sonic hedgehog signalling pathway.
    J Cell Mol Med 2017 Aug 7. Epub 2017 Aug 7.
    Eye Institute of Xiamen University, Xiamen, Fujian, China.
    Ectodysplasin A (Eda), a member of the tumour necrosis factor superfamily, plays an important role in ectodermal organ development. An EDA mutation underlies the most common of ectodermal dysplasias, that is X-linked hypohidrotic ectodermal dysplasia (XLHED) in humans. Even though it lacks a developmental function, the role of Eda during the postnatal stage remains elusive. Read More

    Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
    Blood 2017 Sep 4;130(13):1553-1564. Epub 2017 Aug 4.
    Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
    NF-κB signaling through its NFKB1-dependent canonical and NFKB2-dependent noncanonical pathways plays distinctive roles in a diverse range of immune processes. Recently, mutations in these 2 genes have been associated with common variable immunodeficiency (CVID). While studying patients with genetically uncharacterized primary immunodeficiencies, we detected 2 novel nonsense gain-of-function (GOF) NFKB2 mutations (E418X and R635X) in 3 patients from 2 families, and a novel missense change (S866R) in another patient. Read More

    A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.
    BMC Genet 2017 Aug 2;18(1):74. Epub 2017 Aug 2.
    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.
    Background: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Read More

    A Case of Membranous Aplasia Cutis Congenita and Dermoscopic Features.
    Int J Trichology 2017 Jan-Mar;9(1):33-34
    Department of Dermatology, Hospital General de Ciudad Real, Obispo Rafael Torija, 13005, Ciudad Real, Spain.
    Membranous, bullous, or cystic aplasia cutis congenita is a clinical subtype of aplasia cutis, covered with a membranous or glistening surface. A male newborn presented at birth with two flat lesions on the left parietal scalp, surrounded by a rim of terminal hairs. Physical examination revealed two translucent papules. Read More

    Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia.
    Acta Odontol Scand 2017 Nov 28;75(8):564-572. Epub 2017 Jul 28.
    c Faculty of Social Sciences , Oslo and Akershus University College of Applied Sciences , Oslo , Norway.
    Objective: The aim of this study was to assess demographics, self-reported signs of ectodermal dysplasia (problems with hair, nails, skin and sweat glands), present teeth, previous dental treatment, psychological distress and QoL in individuals with oligodontia, and to explore the associations between these factors. We also aimed to compare the level of psychological distress and QoL between the study group and normative samples.

    Methods: Forty-seven individuals with oligodontia registered at a resource centre in Norway were included in the study. Read More

    Stim1 Regulates Enamel Mineralization and Ameloblast Modulation.
    J Dent Res 2017 Nov 21;96(12):1422-1429. Epub 2017 Jul 21.
    1 Section of Orthodontics and Dentofacial Orthopedics, Division of Oral Health, Growth, and Development, Faculty of Dental Science, Kyushu University, Fukuoka, Japan.
    Loss-of-function mutations in the Ca(2+) release-activated Ca(2+) channel genes ORAI1 and STIM1 abolish store-operated Ca(2+) entry (SOCE) and result in ectodermal dysplasia with amelogenesis imperfecta. However, because of the limited availability of patient tissue, analyses of enamel mineralization or possible changes in ameloblast function or morphology have not been possible. Here, we generated mice with ectodermal tissue-specific deletion of Stim1 ( Stim1 cKO [conditional knockout]), Stim2 ( Stim2 cKO), and Stim1 and Stim2 ( Stim1/2 cKO) and analyzed their enamel phenotypes as compared with those of control ( Stim1/2(fl/fl)) animals. Read More

    The dental phenotype of hairless dogs with FOXI3 haploinsufficiency.
    Sci Rep 2017 Jul 14;7(1):5459. Epub 2017 Jul 14.
    Institut für Spezielle Zoologie und Evolutionsbiologie mit Phyletischem Museum, Friedrich-Schiller-Universität, Erbertstrasse 1, 07743, Jena, Germany.
    Hairless dog breeds show a form of ectodermal dysplasia characterised by a lack of hair and abnormal tooth morphology. This has been attributed to a semi-dominant 7-base-pair duplication in the first exon of the forkhead box I3 gene (FOXI3) shared by all three breeds. Here, we identified this FOXI3 variant in a historical museum sample of pedigreed hairless dog skulls by using ancient DNA extraction and present the associated dental phenotype. Read More

    Functional and esthetic restorative treatment with preheated resins in a patient with ectodermic dysplasia: A clinical report.
    J Prosthet Dent 2017 Jul 11. Epub 2017 Jul 11.
    Assistant Professor, Postgraduate Program in Prosthodontics, Faculty of Dentistry, Andres Bello National University, Santiago, Chile.
    Ectodermal dysplasia is a heterogeneous genetic condition affecting 1.6 to 22 per 100000 people. Oral manifestations associated with this condition include hyperdontia, hypodontia, microdontia, and conical teeth. Read More

    Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
    J Clin Immunol 2017 Jul 12. Epub 2017 Jul 12.
    Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.
    Purpose: Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous hypomorphic mutation of NEMO causes EDA-ID in males. In general, immunodeficiency is not shown in IP patients. Read More

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