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    Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
    N Engl J Med 2018 Apr;378(17):1604-1610
    From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne, Epalinges, Switzerland (S.S.-M., C.K.-Q., M.V., P.S.); and Edimer Pharmaceuticals, Andover, MA (N.K.).
    Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human fetus at gestational week 26; the infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age. Read More

    Maxillary Bone Regeneration Based on Nanoreservoirs Functionalized -Polycaprolactone Biomembranes in a Mouse Model of Jaw Bone Lesion.
    Biomed Res Int 2018 26;2018:7380389. Epub 2018 Feb 26.
    INSERM, UMR 1260, Regenerative Nanomedicine (RNM), FMTS, 67000 Strasbourg, France.
    Current approaches of regenerative therapies constitute strategies for bone tissue reparation and engineering, especially in the context of genetical diseases with skeletal defects. Bone regeneration using electrospun nanofibers' implant has the following objectives: bone neoformation induction with rapid healing, reduced postoperative complications, and improvement of bone tissue quality. implantation of polycaprolactone (PCL) biomembrane functionalized with BMP-2/Ibuprofen in mouse maxillary defects was followed by bone neoformation kinetics evaluation using microcomputed tomography. Read More

    Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia. A systematic review.
    J Oral Rehabil 2018 Apr 21. Epub 2018 Apr 21.
    University Hospital for Dental Prosthetics and Restorative Dentistry, Medical University of Innsbruck, Innsbruck, 6020, Austria.
    Background: Hypohidrotic ectodermal dysplasia (HED) comprises a large group of inherited disorders of ectodermal structures, characterized by hypo-/anhidrosis, hypotrichosis and hypo-/oligo-/anodontia.

    Objective: We aimed to systematically assess the spectrum of prosthodontic approaches with regard to the patients' age and to provide clinical implications for practicing dentists.

    Methods: An electronic and manual search was conducted in four databases (Medline, LIVIVO, Cochrane Library, Web of Science Core Collection). Read More

    A Novel Splicing Mutation of Ectodysplasin A Gene Responsible for Hypohidrotic Ectodermal Dysplasia.
    Oral Dis 2018 Apr 20. Epub 2018 Apr 20.
    Peking University School and Hospital of Stomatology, Department of Pediatric Dentistry.
    Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypodontia, sparse hair and characteristic facial features. This condition is caused by an ectodysplasin A (EDA) gene mutation. In this study, we examined two HED pedigrees and investigated the molecular genetics of the defect. Read More

    Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.
    Plast Reconstr Surg Glob Open 2018 Feb 27;6(2):e1678. Epub 2018 Feb 27.
    Department of Oral and Maxillofacial Surgery, Rambam Health Care Campus, Haifa, Israel; Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; and Department of Orthodontics and Cleft Palate, Rambam Health Care Campus, Haifa, Israel.
    Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. Read More

    Open resection and laryngotracheal reconstruction in a case of subglottic hemangioma in PHACE syndrome.
    Int J Pediatr Otorhinolaryngol 2018 May 9;108:186-189. Epub 2018 Mar 9.
    Department of Otolaryngology, Louisiana State University Health Sciences Center and Children's Hospital New Orleans, New Orleans, LA, USA. Electronic address:
    We describe a 1 month old infant with PHACE syndrome who underwent successful management of subglottic hemangioma by open resection and laryngotracheal reconstruction using a thyroid ala graft. Propranolol is typically the treatment of choice for subglottic hemangiomas however, recent reports have suggested adverse complications with the use of propranolol in children with PHACE syndrome. The child had cerebral and cervical vascular anomalies associated with her PHACE syndrome making her at an increased risk of stroke with the use of propranolol. Read More

    Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia.
    Br J Dermatol 2018 Mar 11. Epub 2018 Mar 11.
    Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University, Bangkok, 10330, Thailand.
    Ectodermal dysplasia (ED) is a heterogeneous group of disorders caused by mutations in at least thirteen genes. Recently, a study reported Palestinian patients with ED from consanguineous families with a homozygous mutation in KREMEN1 (Kringle-containing transmembrane protein 1) and proposed it to be a causative gene for the autosomal recessive ED 13, hair/tooth type (ECTD13; OMIM #617392). A Thai family, parents and two children affected with ED, was recruited. Read More

    Generation of a transgene-free induced pluripotent stem cells line (UNIPDi002-A) from oral mucosa epithelial stem cells carrying the R304Q mutation in TP63 gene.
    Stem Cell Res 2018 Apr 16;28:149-152. Epub 2018 Feb 16.
    Department of Molecular Medicine, University of Padova, 35121 Padua, Italy.
    Transgene free UNIPDi002-A-human induced pluripotent stem cell (hiPSC) line was generated by Sendai Virus Vectors reprogramming from human oral mucosal epithelial stem cells (hOMESCs) of a patient affected by ectrodactyly-ectodermal dysplasia-clefting (EEC)-syndrome, carrying a mutation in exon 8 of the TP63 gene (R304Q). The UNIPDi002-A-hiPSC line retained the mutation of the parental R304Q-hOMESCs and displayed a normal karyotype. No residual expression of transgenes nor Sendai virus vector sequences were detected in the line at passage 8. Read More

    Ellis-Van Creveld Syndrome in a Neonate.
    J Coll Physicians Surg Pak 2018 Mar;28(3):S44-S45
    Department of Paediatrics, KRL Hospital, Islamabad.
    Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. Read More

    Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene.
    Stem Cell Res 2018 Apr 16;28:141-144. Epub 2018 Feb 16.
    Department of Molecular Medicine, University of Padova, 35121 Padua, Italy.
    Oral mucosa epithelial stem cells from a patient affected by Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome carrying the R279H mutation in the TP63 gene were reprogrammed into human induced pluripotent stem cells (hiPSCs) with episomal vectors. The generated UNIPDi003-A-hPSC line retained the mutation of the parental cells and showed a normal karyotype upon long term culture. Analysis of residual transgenes expression showed that the episomal vectors were eliminated from the cell line. Read More

    A Novel Missense Variant in the Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.
    Mol Syndromol 2017 Dec 12;9(1):22-24. Epub 2017 Aug 12.
    Center for Human Genetics, University of Leuven (KU) and University Hospital Leuven (UZ), Leuven, Belgium.
    Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in coding for nectin-4. Five different mutations in the gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c. Read More

    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

    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

    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 2018 Apr 22;45(4):475-478. 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

    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 of ectodermal 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 Ca entry 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 Ca entry (SOCE) through Ca release-activated Ca channels is an essential signaling pathway in many cell types. Ca release-activated Ca channels 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 2018 Apr 15;39(2):251-254. 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 2018 03 14;110(4):376-381. 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 2018 Mar 10;88:114-120. Epub 2017 Nov 10.
    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 12 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 2018 Apr 4;75(7):1179-1190. 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

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