Search our Database of Scientific Publications and Authors

I’m looking for a

    5761 results match your criteria Aplasia Cutis Congenita

    1 OF 116

    [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 Aug 17:1-30. Epub 2017 Aug 17.
    a Department of Physics , Wake Forest University , Winston-Salem , NC.
    An important regulatory domain of 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-$\mu s$ 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 Aug 1:22034517725692. Epub 2017 Aug 1.
    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 08 4. Epub 2017 Aug 4.
    Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States;
    NF-κB signaling through its NFKB1-dependant canonical and NFKB2-dependant non-canonical pathways play distinctive roles in a diverse range of immune processes. Recently, mutations in these two genes have been associated with common variable immunodeficiency (CVID). While studying patients with genetically-uncharacterized primary immunodeficiencies we detected two novel nonsense gain-of-function (GOF) NFKB2 mutations in three patients from two families (E418X and R635X), and a novel missense change in another patient (S866R). 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 Jul 28:1-9. 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 Jul 1:22034517719872. Epub 2017 Jul 1.
    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

    Automatic recognition of the XLHED phenotype from facial images.
    Am J Med Genet A 2017 Sep 10;173(9):2408-2414. Epub 2017 Jul 10.
    Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
    X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder that affects ectodermal structures and presents with a characteristic facial appearance. The ability of automated facial recognition technology to detect the phenotype from images was assessed . In Phase 1 of this study we examined if the age of male patients affected the technology's recognition. Read More

    ADULT syndrome: dental features of a very rare condition.
    J Biol Regul Homeost Agents 2017 Apr-Jun;31(2 Suppl 1):61-65
    Department of Medicine and Surgery, Research Centre into Paediatric Dentistry and Rare Syndromes, University of Insubria, ASST dei Sette Laghi, Dental Clinic, Varese, Italy.
    The Acro-Dermato-Ungual-Lacrimal-Tooth syndrome (ADULT syndrome) is one of the rarest ectodermal dysplasias and it is associated with several malformations involving especially the limbs. The most clinical features are the presence of ectrodactyly, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal alopecia, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis. The ectodermal dysfunction expresses itself with conoid teeth, enamel hypoplasia, dentinal dysplasia and especially hypodontia, with following functional and aesthetic defects. Read More

    ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.
    Mol Syndromol 2017 Jun 13;8(4):201-205. Epub 2017 Apr 13.
    Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
    The TP63 gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and variable features related to ectodermal dysplasia/ADULT syndrome, and the polymorphism rs16864880 in the TP63 gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based upon a review of 40 cases. Read More

    Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.
    Blood 2017 Jul 5. Epub 2017 Jul 5.
    Study Center for Immunodeficiencies, Assistance Publique-Hopitaux de Paris (APHP), Necker Hospital for Sick Children, Paris, France;
    X-linked recessive ectodermal dysplasia (EDA) with immunodeficiency (XR-EDA-ID) is a rare primary immunodeficiency (PID) caused by hypomorphic mutations of the IKBKG gene encoding the NEMO protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and non-hematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests that it has been reserved for only the most severe cases. Read More

    Ectodysplasin A protein promotes corneal epithelial cell proliferation.
    J Biol Chem 2017 Aug 27;292(32):13391-13401. Epub 2017 Jun 27.
    From the Eye Institute of Xiamen University, Xiamen, Fujian 361102,
    The EDA gene encodes ectodysplasin A (Eda), which if mutated causes X-linked hypohidrotic ectodermal dysplasia (XLHED) disease in humans. Ocular surface changes occur in XLHED patients whereas its underlying mechanism remains elusive. In this study, we found Eda was highly expressed in meibomian glands, and it was detected in human tears but not serum. Read More

    Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
    J Allergy Clin Immunol 2017 Jun 17. Epub 2017 Jun 17.
    Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address:
    Background: Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to serine 32 and serine 36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation and thus activation of the canonical nuclear factor κ light chain enhancer of activated B cells (NF-κB) pathway. The outcome of hematopoietic stem cell transplantation is poor in patients with AD EDA-ID despite achievement of chimerism. Mice heterozygous for the serine 32I mutation in IκBα have impaired noncanonical NF-κB activity and defective lymphorganogenesis. Read More

    Long-term dental management of a patient with features of Schöpf-Schulz-Passarge syndrome.
    Spec Care Dentist 2017 Jul 9;37(4):204-208. Epub 2017 Jun 9.
    Professor, Paediatric Dentistry, School of Dentistry, The University of Western Australia, Australia.
    Schöpf-Schulz-Passarge syndrome (SSPS) is thought to be a rare autosomal recessive condition similar to many other ectodermal dysplasias. Diagnosis is difficult, with many possible differential diagnoses; however, eyelid cysts are a commonly seen feature. This clinical report aims to highlight this and describe the dental features and management of this syndrome, which existing literature has not previously described. Read More

    Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
    J Clin Immunol 2017 Jul 9;37(5):397-412. Epub 2017 Jun 9.
    St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, USA.
    Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations enhanced the inhibitory activity of IκBα, by preventing its phosphorylation on serine 32 or 36 and its subsequent degradation. Read More

    WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.
    Nat Commun 2017 Jun 7;8:15397. Epub 2017 Jun 7.
    Department of Dermatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
    Human WNT10A mutations are associated with developmental tooth abnormalities and adolescent onset of a broad range of ectodermal defects. Here we show that β-catenin pathway activity and adult epithelial progenitor proliferation are reduced in the absence of WNT10A, and identify Wnt-active self-renewing stem cells in affected tissues including hair follicles, sebaceous glands, taste buds, nails and sweat ducts. Human and mouse WNT10A mutant palmoplantar and tongue epithelia also display specific differentiation defects that are mimicked by loss of the transcription factor KLF4. Read More

    Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.
    Geburtshilfe Frauenheilkd 2017 Apr;77(4):377-382
    Universitätsklinikum Erlangen, Kinder- und Jugendklinik, Kompetenzzentrum für Ektodermale Dysplasien, Erlangen, Germany.
    Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. Read More

    Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
    Am J Med Genet A 2017 May 17. Epub 2017 May 17.
    Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
    The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay. Read More

    Cystinuria in a patient with 19q12q13.1 deletion.
    CEN Case Rep 2016 May 19;5(1):67-69. Epub 2015 Sep 19.
    Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain.
    Cystinuria is a genetic cause of kidney stones with a prevalence of 1 in 7000 births. So far, two genes have been described responsible for this disorder (SLC3A1 and SLC7A9). We report a patient with an SLC7A9 gene mutation located in 19q13. Read More


    Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.
    Ann Plast Surg 2017 Jun;78(6):684-691
    From the *Department of Plastic and Cosmetic Surgery, Gansu Provincial Hospital, Lanzhou; †Department of Plastic & Reconstructive Surgery, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai; and ‡Plastic Surgery Hospital (Institute), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, P.R. China.
    Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. Read More

    Aplasia cutis congenita type V: a case report and review of the literature.
    Int J Dermatol 2017 Jun 8;56(6):e118-e121. Epub 2017 May 8.
    Washington State University Vancouver, Vancouver, WA, USA.
    Aplasia cutis congenita (ACC) is a relatively rare congenital anomaly that most commonly occurs as a solitary cutaneous defect on the scalp. Depth of involvement varies, and involvement of deeper calvarium and dural structures can be seen in more severe cases. Multiple classification systems have been devised with the Frieden Classification System being the most widely adopted. Read More

    APLASIA CUTIS CONGENITA TYPE I - A CASE SERIES.
    Georgian Med News 2017 Mar(264):7-11
    Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Dresden, Germany; Onkoderma - Policlinic of Dermatology and Dermatologic Surgery, Sofia, Bulgaria; Nirvana Skin Clinic, Vadodara, Gujarat, India; Medical Institute of MVR, Department of Dermatology and Venereology, Sofia, Bulgaria; Molecular Dermatology Research Center, Department of Dermatology, Shiraz University of Medical Sciences, Shiraz, Iran.
    Aplasia Cutis Congenita is a rare disorder with circumscribed, partial or widespread absence of skin and subcutaneous soft tissue; in about 20% it also causes skull defects. The disease is heterogeneous in its clinical presentation with nine major subtypes. Type I represents nonsyndromic Aplasia Cutis Congenita. Read More

    Extreme aplasia cutis congenita involving the skull.
    Childs Nerv Syst 2017 Aug 5;33(8):1395-1398. Epub 2017 May 5.
    Pediatric Neurosurgery, Children's of Alabama, Birmingham, AL, USA.
    Aplasia cutis congenita (ACC) is a rare congenital malformation of primarily the skin; it is most commonly seen on the scalp but can occur anywhere on the body. The exact etiology is still unclear but there are many suggested causes. Classification systems have been proposed to help categorize patients and assist with treatment. Read More

    Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
    J Hum Genet 2017 Apr 27. Epub 2017 Apr 27.
    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
    Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as congenital heart defects. The etiology of this syndrome has remained largely unknown but defective Notch signaling during vascular formation has been suggested. Here we describe a sporadic Japanese newborn case with clinically diagnosed AOS. Read More


    Aplasia Cutis Congenita: Trichoscopy Findings.
    Int J Trichology 2016 Oct-Dec;8(4):184-185
    Department of Dermatology, Marília's Medical School, FAMEMA, Brazil.
    Aplasia cutis congenita (ACC) is a rare disorder characterized by localized absence of skin that most commonly affects the scalp. We present a case of ACC in a 45-day-old girl and the dermoscopic findings. Dermoscopy has shown to be an easy, fast and useful method for the diagnosis of this condition. Read More

    EOGT and O-GlcNAc on secreted and membrane proteins.
    Biochem Soc Trans 2017 Apr;45(2):401-408
    Department of Cell Biology, Albert Einstein College of Medicine, New York, NY 10461, U.S.A.
    Here, we describe a recently discovered O-GlcNAc transferase termed EOGT for EGF domain-specific O-GlcNAc transferase. EOGT transfers GlcNAc (N-acetylglucosamine) to Ser or Thr in secreted and membrane proteins that contain one or more epidermal growth factor-like repeats with a specific consensus sequence. Thus, EOGT is distinct from OGT, the O-GlcNAc transferase, that transfers GlcNAc to Ser/Thr in proteins of the cytoplasm or nucleus. Read More

    A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
    BMC Med Genet 2017 Apr 12;18(1):42. Epub 2017 Apr 12.
    Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
    Background: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet. Read More

    Implant-supported Oral Rehabilitation in Child with Ectodermal Dysplasia - 4-year Follow-up.
    Bull Tokyo Dent Coll 2017 ;58(1):49-56
    Private Practice.
    Ectodermal dysplasia (ED) is an anomaly determined by genetic factors that alter ectodermal structures such as skin, hair, nails, glands, and teeth. Children affected by this condition require extensive, comprehensive, and multidisciplinary treatment. An 8-year-old female patient visited the Dentistry Clinic of the Federal University of Santa Catarina with the chief complaint of multiple missing teeth. Read More

    Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
    Arq Bras Oftalmol 2017 Jan-Feb;80(1):49-51
    Department of Ophthalmology and Visual Sciences, University of Wisconsin, Wisconsin, USA.
    Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. Read More

    Evaluation of Masticatory Stimulation Effect on the Maxillary Transversal Growth in Ectodermal Dysplasia Children.
    Int J Clin Pediatr Dent 2017 Jan-Mar;10(1):55-61. Epub 2017 Feb 27.
    Professor, Department of Mathematics, Faculty of Sciences, Lebanese University, Beirut, Lebanon.
    Aims: Severe oligodontia is one of the most important symptoms in children with hypohidrotic ectodermal dysplasia (HED). The growth of the maxilla is a key consideration in restoring their mouth. The aim of this study was to evaluate the transversal maxillary sutural growth, after passive masticatory stimulation, in HED children. Read More

    Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
    Am J Med Genet A 2017 May 28;173(5):1378-1382. Epub 2017 Mar 28.
    Department of Human Genetics, University of Chicago, Chicago, Illinois.
    CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, six molecularly confirmed cases of CHIME syndrome have been reported. Here, we report the seventh patient with biallelic PIGL mutations associated with CHIME syndrome and describe the first characterization of an intragenic deletion in PIGL. Read More

    Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
    Am J Med Genet A 2017 May 28;173(5):1186-1189. Epub 2017 Mar 28.
    Department of Medical Genetics, Skeletal Dysplasia Group, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
    Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome or short-rib polydactyly type IV, was first described in 1983, and has, thus far, remained without a defined molecular basis. The most recent classification of the skeletal dysplasias referred to this phenotype as an as-yet unproven ciliopathy. Read More

    A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family.
    Int J Mol Cell Med 2016 23;5(4):260-263. Epub 2016 Oct 23.
    Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. Here we describe a novel acceptor splice site mutation c. Read More

    Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
    Am J Med Genet A 2017 May 23;173(5):1364-1368. Epub 2017 Mar 23.
    Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
    Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Read More

    Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
    Genet Med 2017 Mar 16. Epub 2017 Mar 16.
    Department of Medical Genetics, Lille University Hospital, CHU Lille, Lille, France.
    Purpose: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown.

    Methods: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. Read More

    1 OF 116