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    A Novel Missense Variant in theGene 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 incoding for nectin-4. Five different mutations in thegene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c. Read More

    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.
    Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is an inherited disorder and generally characterized by the diminution or absence of eccrine sweat glands, oligodontia, peg shaped teeth, and sparse hair.X-linked Hypohidrotic (anhidrotic) ectodermal dysplasia (XLHED) is the most frequent inheritance patterns, though in some cases autosomal dominant and recessive inheritance patterns were also reported.4 genes (EDA, EDAR, EDARADD and WNT10A) account for more than 90% of HED cases and the mutations in Ectodysplasin-A (EDA) gene are the most prevalent (58%). Read More

    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

    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

    A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.
    Ann Hum Genet 2018 Feb 12. 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

    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

    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

    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

    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

    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

    microRNAs associated with early neural crest development in Xenopus laevis.
    BMC Genomics 2018 01 18;19(1):59. Epub 2018 Jan 18.
    School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, NR4 7TJ, UK.
    Background: The neural crest (NC) is a class of transitory stem cell-like cells unique to vertebrate embryos. NC cells arise within the dorsal neural tube where they undergo an epithelial to mesenchymal transition in order to migrate and differentiate throughout the developing embryo. The derivative cell types give rise to multiple tissues, including the craniofacial skeleton, peripheral nervous system and skin pigment cells. Read More

    Let-7b regulates alpaca hair growth by downregulating ectodysplasin A.
    Mol Med Rep 2018 Mar 17;17(3):4688-4694. Epub 2018 Jan 17.
    Alpaca Bioengineering Laboratory, College of Animal Science and Veterinary Medicine, Shanxi Agricultural University, Taigu, Shanxi 030801, P.R. China.
    Hypohidrotic ectodermal dysplasia (HED), also known as anhidrotic ectodermal dysplasia, is characterized by the clinical manifestations of less sweat or no sweat, sparse or no hair, tooth agenesis and/or abnormal tooth morphology. The characteristics of alpaca ear hair differ from the back hair. The ectodysplasin A (EDA) signaling pathway has a regulatory effect on skin development and hair growth. Read More

    An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.
    Br J Dermatol 2017 Dec 26. Epub 2017 Dec 26.
    Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.
    Pure hair and nail ectodermal dysplasia (PHNED; MIM 602032, 614929, and 614931) is an autosomal recessive ED that is characterized by hypotrichosis and nail dystrophy only, without further ectodermal or non-ectodermal alterations. To date, homozygous mutations in three genes have been reported to cause PHNED: KRT85 (MIM 602767), encoding keratin, type II cuticular Hb5 like; KRT74 (MIM 608248), encoding keratin, type II cytoskeletal 74; and HOXC13 (MIM 142976), encoding Homeobox C13. Here, we studied the genetic basis of PHNED in an Iranian kindred, displaying double consanguinity (Fig. Read More

    Disturbances of dental development distinguish patients with oligodontia-ectodermal dysplasia from isolated oligodontia.
    Orthod Craniofac Res 2018 Feb 22;21(1):48-56. Epub 2017 Dec 22.
    Department of Oral & Maxillofacial Surgery, Special Dental Care and Orthodontics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
    Objective: To investigate phenotypic differences in dental development between isolated oligodontia and oligodontia-ectodermal dysplasia (ED).

    Setting And Sample Population: A total of 129 patients diagnosed with isolated oligodontia and 22 patients with oligodontia as part of ED were eligible.

    Methods: The phenotype of dental development was assessed for the frequency of missing a certain tooth, dental age, development of each tooth present, abnormal size and abnormal shape of teeth. Read More

    Case report of Schöpf-Schulz-Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A.
    J Dermatol 2017 Dec 22. Epub 2017 Dec 22.
    Department of Dermatology, National Cheng Kung University College of Medicine and Hospital, Tainan, Taiwan.
    Schöpf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by cysts of the eyelids, hypodontia, hypotrichosis, palmoplantar keratosis and onychodystrophy, and it is not common in Asia according to the published work. This autosomal recessive disorder was believed to result from mutations in the WNT10A gene. We report a 54-year-old Taiwanese man with SSPS resulted from a homozygous mutation (p. Read More

    A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
    Int J Dermatol 2018 Feb 19;57(2):223-226. Epub 2017 Dec 19.
    Department of Dermatology, Sozialmedizinisches Zentrum Ost (Donauspital), Vienna, Austria.
    Ectodermal dysplasias (EDs) are a group of hereditary disorders defined by alterations in two or more ectodermal structures. One recently described rare entity is the autosomal recessive inherited ectodermal dysplasia-syndactyly syndrome 1 (EDSS1). Homozygous and compound heterozygous missense and nonsense mutations in the poliovirus receptor related-4 (PVRL4) gene, encoding cell adhesion molecule nectin-4, have been identified as causal for EDSS1. Read More

    Ellis-van Creveld with an Unusual Dental Anomaly: A Case Report.
    Iran J Med Sci 2017 Sep;42(5):501-504
    Department of Oral Medicine and Radiology, Saraswati Dental College, Lucknow, Uttar Pradesh, India.
    The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal recessive disorder with variable expressions, due to the mutation of the EVC syndrome 1 and 2 genes, which are located on chromosome 4p16. Read More

    Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.
    Am J Case Rep 2017 Dec 12;18:1325-1329. Epub 2017 Dec 12.
    CIBER Rare Diseases, Carlos III Health Institute, Madrid, Spain.
    BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a few cases caused by mutations in WDR35. Read More

    Reversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome.
    Int J Pediatr Otorhinolaryngol 2017 Dec 5;103:55-57. Epub 2017 Oct 5.
    University of Utah, Division of Otolaryngology, United States.
    PHACE syndrome is the association of large or segmental infantile hemangiomas of the face or scalp with abnormalities within the posterior fossa, arteries, cardiovascular system, and eyes. We present a case of reversible profound sensorineural hearing loss due to a cerebellopontine angle infantile hemangioma that was successfully treated with propranolol. Read More

    Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin.
    Indian Dermatol Online J 2017 Nov-Dec;8(6):482-484
    Department of Dermatology, PGIMER and Dr Ram Manohar Lohia Hospital, New Delhi, India.
    We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome. We focus on this uncommon entity (XLO) to highlight the differentials of alopecia with palmoplantar keratoderma. Read More

    Approach to a Child with Primary Immunodeficiency Made Simple.
    Indian Dermatol Online J 2017 Nov-Dec;8(6):391-405
    Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood. Read More

    Aplasia cutis congenita: Two case reports and discussion of the literature.
    Surg Neurol Int 2017 9;8:273. Epub 2017 Nov 9.
    Department of Neurosurgery, Children's Hospital "Agia Sofia", Athens, Greece.
    Background: Aplasia cutis congenita (ACC) is a part of a heterogeneous group of conditions characterized by the congenital absence of epidermis, dermis, and in some cases, subcutaneous tissues or bone usually involving the scalp vertex. There is an estimated incidence of 3 in 10,000 births resulting in a total number of 500 reported cases to date. The lesions may occur on every body surface although localized scalp lesions form the most frequent pattern (70%). Read More

    Early implant placement for a patient with ectodermal dysplasia: Thirteen years of clinical care.
    J Prosthet Dent 2017 Nov 29. Epub 2017 Nov 29.
    Graduate student, Advanced Prosthodontics, The Ohio State University College of Dentistry, Columbus, Ohio; and Private practice, Montreal, Quebec, Canada.
    Patients with ectodermal dysplasia have abnormalities of 2 or more structures that originate from the ectoderm. The oral manifestations often include the congenital absence of teeth and malformed teeth. This clinical report describes the interdisciplinary care from childhood through the definitive dental rehabilitation completed at skeletal maturation to replace the missing teeth in a patient with ectodermal dysplasia. Read More

    Encephalocraniocutaneous Lipomatosis: Haberland Syndrome.
    Am J Case Rep 2017 Dec 1;18:1271-1275. Epub 2017 Dec 1.
    Department of Neurology, Yeditepe University School of Medicine, Istanbul, Turkey.
    BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs. Read More

    Do you know this syndrome? Clouston syndrome.
    An Bras Dermatol 2017 May-Jun;92(3):417-418
    Dermatology Outpatient Clinic, Hospital Universitário Evangélico de Curitiba, Faculdade Evangélica do Paraná (HUEC-FEPAR) - Curitiba (PR) Brazil.
    Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. Read More

    Medical sequencing ofectodermal dysplasia in identical twins and evaluation of the potential eligibility for recombinant EDA therapy.
    J Dent Res Dent Clin Dent Prospects 2017 20;11(3):135-139. Epub 2017 Sep 20.
    University of Pittsburgh School of Dental Medicine, Department of Pediatric Dentistry, Pittsburgh, PA, USA.
    The purpose of this study was to test two 8-year-old identical twins with ectodermal dysplasia (ED) and their unaffected parents for the presence of mutations in the EDA gene with the hypothesis that they might be carrying a de novo mutation in EDA and potentially eligible for recombinant EDA therapy. DNA was extracted using saliva samples obtained from the identical twin girls and both parents. PCR products of Ectodyplasin A (), Ectodysplasin Receptor (EDAR), Ectodysplasin Receptor Associated Death Domain (), and Connexin-30 () were sequenced by the Sanger method and the results analyzed using a reference sequence. Read More

    Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
    Mol Genet Genomic Med 2017 11 31;5(6):774-780. Epub 2017 Jul 31.
    Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
    Background: Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway.

    Methods: Molecular findings in a total of 65 unrelated patients with a clinical diagnosis of JBS who were previously screened for UBR1 mutations by Sanger sequencing were reviewed and cases lacking a disease-causing UBR1 mutation on either one or both alleles were included in this study. Read More

    Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement.
    Pediatr Dermatol 2018 Jan 27;35(1):e59-e61. Epub 2017 Nov 27.
    Section of Pediatric Dermatology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Specific clinical features of aplasia cutis congenita may indicate the presence of underlying cranial or cerebrovascular defects, allowing for early recognition and intervention. Most information about aplasia cutis congenita exists as individual case reports, with few large-scale studies. We conducted a 7-year retrospective chart review of 90 cases of aplasia cutis congenita and identified clinical characteristics including morphology, number of lesions, anatomic location, presence of hair collar sign, associated cutaneous features, histology, and imaging results. Read More

    Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.
    J Pediatr 2017 Dec;191:145-151
    Clinic for Special Children, Strasburg, PA. Electronic address:
    Objective: To evaluate clinical outcome of patients with Ellis-van Creveld syndrome (EVC) in whom congenital heart disease (CHD) repair was delayed intentionally to reduce the risk of postoperative respiratory morbidity and mortality.

    Study Design: This retrospective review of 51 EVC c.1886+5G>T homozygotes born between 2005 and 2014 focused on 18 subjects who underwent surgery for CHD, subdivided into early (mean, 1. Read More

    FOXI2: a possible gene contributing to ectodermal dysplasia.
    Eur J Dermatol 2017 Dec;27(6):641-645
    Department of Biochemistry and Molecular Genetics; American University of Beirut, Beirut, Lebanon.
    Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. Read More

    ORAI1 mutations abolishing store-operated Caentry cause anhidrotic ectodermal dysplasia with immunodeficiency.
    J Allergy Clin Immunol 2017 Nov 16. Epub 2017 Nov 16.
    Department of Pathology, New York University School of Medicine, New York, NY. Electronic address:
    Background: Store-operated Caentry (SOCE) through Carelease-activated Cachannels is an essential signaling pathway in many cell types. Carelease-activated Cachannels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) 1 and STIM2. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. Read More

    Prosthodontic rehabilitation with monolithic, multichromatic CAD-CAM complete overdentures in an adolescent patient with ectodermal dysplasia: A clinical report.
    J Prosthet Dent 2017 Nov 15. Epub 2017 Nov 15.
    Professor and Director, Hugh Love Center for Research and Education in Technology, Loma Linda University School of Dentistry, Loma Linda, Calif.
    Ectodermal dysplasia is a rare, hereditary, congenital disease that affects the normal development of certain tissues and structures of ectodermal origin. The disease is manifested to different degrees of severity and may involve the nose, eyes, hair, nails, sweat glands, and enamel. This report describes a 14-year-old boy with ectodermal dysplasia, rehabilitated with monolithic, multichromatic maxillary and mandibular computer-aided design and computer-aided manufacturing (CAD-CAM) acrylic resin complete overdentures. Read More

    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 2018 Jan 12;176(1):75-81. 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 Dec 8;23(12):1138-1155. 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 Dec 6;23(12):1466-1473. 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 2018 Feb 19;38(2):110-117. 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 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 Dec 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.
    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

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