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    1 OF 110

    Almost Unilateral Focal Dermal Hypoplasia.
    Ann Dermatol 2017 Feb 3;29(1):91-94. Epub 2017 Feb 3.
    Department of Dermatology, Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Wonju, Korea.
    Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Read More

    A case report of reactive solitary eccrine syringofibroadenoma.
    Indian Dermatol Online J 2017 Jan-Feb;8(1):35-38
    Department of Dermatology, Venereology and Leprosy, Rajendra Institute of Medical Sciences, Ranchi, India.
    Eccrine syringofibroadenoma is a very rare benign tumour of acrosyringium of eccrine sweat duct. Based on the evidences of known etiological factors, two forms have been proposed; reactive and nonreactive. Reactive forms are rarer, and on even rarer occasions, trauma complicated by secondary nonspecific infections may lead to the development of reactive eccrine syringofibroadenoma, as in our case. Read More

    Oral Rehabilitation of a Patient With Ectodermal Dysplasia Treated With Fresh-Frozen Bone Allografts and Computer-Guided Implant Placement: A Clinical Case Report.
    J Oral Maxillofac Surg 2017 Jan 20. Epub 2017 Jan 20.
    Clinical Assistant Professor, Implant Center for Edentulism and Jawbone Atrophies, Maxillo-Facial and Odontostomatology Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
    Ectodermal dysplasia (ED) is an inherited disorder characterized by abnormality of ectodermally derived structures. A recurrent oral finding is oligodontia, which in turn leads to a severely hypotrophic alveolar process with typical knife-edge morphology and adverse ridge contours. This unfavorable anatomy can seriously hamper proper implant placement. Read More

    A case of mosaicism in ectodermal dysplasia - skin fragility syndrome.
    Br J Dermatol 2017 Feb 9. Epub 2017 Feb 9.
    Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.
    Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene encoding pakophilin-1 (PKP1), which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case of a 2-year-old girl with unilateral superficial erosions, plantar keratoderma and nail dystrophy, all showing a Blaschko-linear arrangement. Read More

    Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.
    Clin Dysmorphol 2017 Feb 3. Epub 2017 Feb 3.
    aManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre bDepartment of Burns and Plastic Surgery, Royal Manchester Children's Hospital, Central Manchester NHS Foundation Trust cDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester dDepartment of Paediatrics, Royal Preston Hospital, East Lancashire Teaching Hospitals Trust, Preston, UK.
    The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. Read More

    Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia.
    J Dent Res 2017 Feb 11;96(2):217-224. Epub 2016 Oct 11.
    2 Department of Biochemistry, University of Lausanne, Epalinges, Switzerland.
    The tumor necrosis factor (TNF) family ligand ectodysplasin A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA receptor (EDAR) and X-linked EDA receptor (XEDAR/EDA2R), respectively. Inactivating mutations in Eda or Edar cause hypohidrotic ectodermal dysplasia (HED), a condition characterized by malformations of the teeth, hair and glands, with milder deficiencies affecting only the teeth. EDA acts early during the development of ectodermal appendages-as early as the embryonic placode stage-and plays a role in adult appendage function. Read More

    Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: a multicentric genotype-phenotype study.
    Clin Genet 2017 Jan 20. Epub 2017 Jan 20.
    Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Centre de Référence des Manifestations Odontologiques des Maladies Rares, O Rares, Strasbourg, France.
    WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia (TOODD) and Schöpf-Schulz-Passarge Syndrome (SSPS). Here we describe the dental, ectodermal, and extra-ectodermal phenotypic features of a cohort of 41 patients from 32 unrelated families. Read More

    [Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].
    Arch Argent Pediatr 2017 02;115(1):e34-e38
    Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
    Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Read More

    New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
    BMC Med Genet 2017 Jan 7;18(1). Epub 2017 Jan 7.
    Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
    Background: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. Read More

    Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability.
    J Am Dent Assoc 2017 Mar 30;148(3):157-163. Epub 2016 Dec 30.
    Background And Overview: Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder with variable lacrimal and salivary gland hypoplasia and aplasia, auricular anomalies and hearing loss, dental defects and caries, and digital anomalies.

    Case Description: The authors present the cases of 2 unrelated children with enamel defects and history of dry mouth leading to recurrent dental caries. The referring diagnoses were Sjögren disease and hypohidrotic ectodermal dysplasia, respectively. Read More

    Generation of Hoxc13 knockout pigs recapitulates human ectodermal dysplasia-9.
    Hum Mol Genet 2016 Dec 22. Epub 2016 Dec 22.
    Key Laboratory of Regenerative Biology, Chinese Academy of Sciences, and Guangdong Provincial Key Laboratory of Stem Cells and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, Guangdong, People's Republic of China
    Atrichia and sparse hair phenotype cause distress to many patients. Ectodermal dysplasia-9 (ED-9) is a congenital condition characterized by hypotrichosis and nail dystrophy without other disorders, and Hoxc13 is a pathogenic gene for ED-9. However, mice carrying Hoxc13 mutation present several other serious disorders, such as skeletal defects, progressive weight loss and low viability. Read More

    Retin Cases Brief Rep 2016 Dec 7. Epub 2016 Dec 7.
    Department of Ophthalmology, Dışkapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
    Purpose: Ectodermal dysplasia (ED) results from abnormal development of the ectodermal layer. Although coexistence of ED and retinal pathology has been described, concomitance with retinal venous tortuosity has not been reported in the literature.

    Methods: Case report. Read More

    Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.
    BMC Med Genet 2016 Nov 24;17(1):88. Epub 2016 Nov 24.
    Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
    Background: The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis.

    Methods: In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis. Read More

    KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
    Hum Genet 2017 Jan 12;136(1):99-105. Epub 2016 Nov 12.
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
    Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia disease genes through a regulatory network that maintains the balance between proliferation and differentiation of the epidermis and other ectodermal derivatives. The ectodermal knockout phenotype of five mouse genes that regulate and/or are regulated by TP63 (Irf6, Ikkα, Ripk4, Stratifin, and Kdf1) is strikingly similar and involves abnormal balance towards proliferation at the expense of differentiation, but only the first three have corresponding ectodermal phenotypes in humans. Read More

    General Diseases Influence on Peri-Implantitis Development: a Systematic Review.
    J Oral Maxillofac Res 2016 Jul-Sep;7(3):e5. Epub 2016 Sep 9.
    Department of Maxillofacial Surgery, Lithuanian University of Health Sciences, Kaunas Lithuania.
    Objectives: To systematically review the influence of systemic diseases or medications used in their treatment on the dental implant therapy success.

    Material And Methods: The search strategy was implemented on the National Library of Medicine database (MEDLINE) (Ovid) and EMBASE electronic databases between January 2006 and January 2016. Human studies with available English articles analysing the relationship between dental implant therapy success and systemic diseases, such as diabetes mellitus, AIDS/HIV, rheumatoid arthritis, osteoporosis, Crohn's disease, cardiovascular diseases, scleroderma, Sjögren's syndrome, lichen planus, ectodermal dysplasia, post-transplantation status, were included in present review according to the PRISMA guidelines. Read More

    Ellis-Van Creveld syndrome in siblings: A rare case report.
    J Pharm Bioallied Sci 2016 Oct;8(Suppl 1):S179-S181
    Department of Oral Medicine and Radiology, Vinayaka Missions Sankarachariyar Dental College, Salem, Tamil Nadu, India.
    Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis-Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis-Van Creveld syndrome in siblings. Read More

    Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up.
    Case Rep Dent 2016 16;2016:2164340. Epub 2016 Oct 16.
    Department of Histology and Embryology, Faculty of Biomedicine, Federal University of Piauí, Parnaíba, PI, Brazil.
    Ectodermal dysplasia (ED) is a genetically heterogeneous condition resulting from clinical anomalies of structures derived from the ectoderm, such as the hair, nails, sweat glands, and teeth. This clinical report presents the case of a child diagnosed with hypohidrotic ED at 2 years of age; clinical and imaging evaluation was performed with 6-year follow-up, and we present details of the prosthetic dental care, with a 12-month follow-up. The patient's masticatory capacity had improved, leading to the child gaining 4 kg. Read More

    [A gene study of a family with hidrotic ectodermal dysplasia].
    Zhongguo Dang Dai Er Ke Za Zhi 2016 Nov;18(11):1141-1144
    Department of Neonatology, First Affiliated Hospital, Medical School of Xi'an Jiaotong University, Xi'an 710061, China.
    Objective: To investigate the clinical features and molecular mechanism of hidrotic ectodermal dysplasia (HED).

    Methods: A clinical and gene study was performed for five generations (91 people) in the family of one proband with HED. GJB6 gene detection was performed for 7 patients and 3 normal people in this family. Read More

    [Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].
    Pan Afr Med J 2016 1;24:183. Epub 2016 Jul 1.
    Service de Néphrologie, CHU Mohamed VI, Faculté de Médecine, Université Mohamed Premier, Oujda, Maroc.
    Pachyonychia congenita (PC) is a rare hereditary disease, mainly characterized by a painful palmoplantar keratoderma, thickened nails, cysts and white lesions of the oral mucosa. Its clinical manifestations are very variable, it may appear from birth to adulthood. This study report the case of a child with pachyonychia congenita associated with bronchiectasis and renal artery stenosis. Read More

    Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.
    Clin Exp Dermatol 2016 Dec 27;41(8):884-889. Epub 2016 Oct 27.
    Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK.
    Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. Read More

    Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
    J Hum Genet 2016 Oct 16;61(10):891-897. Epub 2016 Jun 16.
    Department of Pediatrics, German Competence Center for Children with Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany.
    Hypohidrotic ectodermal dysplasia (HED), a rare and heterogeneous hereditary disorder, is characterized by deficient development of multiple ectodermal structures including hair, sweat glands and teeth. If caused by mutations in the genes EDA, EDA1R or EDARADD, phenotypes are often very similar as the result of a common signaling pathway. Single-nucleotide polymorphisms (SNPs) affecting any gene product in this pathway may cause inter- and intrafamilial variability. Read More

    Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.
    Eur J Med Genet 2016 Nov 14;59(11):559-563. Epub 2016 Oct 14.
    Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address:
    A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13. Read More

    DLX3-Dependent Regulation of Ion Transporters and Carbonic Anhydrases is Crucial for Enamel Mineralization.
    J Bone Miner Res 2016 Oct 19. Epub 2016 Oct 19.
    Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, USA.
    Patients with tricho-dento-osseous (TDO) syndrome, an ectodermal dysplasia caused by mutations in the homeodomain transcription factor DLX3, exhibit enamel hypoplasia and hypomineralization. Here we used a conditional knockout mouse model to investigate the developmental and molecular consequences of Dlx3 deletion in the dental epithelium in vivo. Dlx3 deletion in the dental epithelium resulted in the formation of chalky hypomineralized enamel in all teeth. Read More

    NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.
    Medicine (Baltimore) 2016 Oct;95(40):e5081
    aDepartment of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health bDepartment of Internal Medicine cDepartment of Pediatrics dDepartment of Infectious Diseases eDepartment of Dermatology, Peking Union Medical College Hospital, Beijing, P.R. China.
    Background: Common variable immunodeficiency (CVID) with central adrenal insufficiency is a recently defined clinical syndrome caused by mutations in the nuclear factor kappa-B subunit 2 (NFKB2) gene. We present the first case of NFKB2 mutation in Asian population.

    Methods And Results: An 18-year-old Chinese female with adrenocorticotropic hormone (ACTH) deficiency was admitted due to adrenal crisis and pneumonia. Read More

    Occlusal rehabilitation in patients with congenitally missing teeth-dental implants, conventional prosthetics, tooth autotransplants, and preservation of deciduous teeth-a systematic review.
    Int J Implant Dent 2015 Dec 18;1(1):30. Epub 2015 Nov 18.
    Department of Oral and Maxillofacial Surgery, Schleswig-Holstein University Hospital, Arnold-Heller-Straße 3, Haus 26, 2D-4105, Kiel, Germany.
    Background: Implant patients with congenitally missing teeth share some common charateristics and deserve special attention.

    Methods: The PICO question was "In patients with congenitally missing teeth, does an early occlusal rehabilitation with dental implants in comparison to tooth autotransplants, conventional prosthetics on teeth or preservation of deciduous teeth have better general outcomes in terms of survival, success and better patient centered outcomes in terms of quality of life, self-esteem, satisfaction, chewing function?" After electronic database search, a total of 63 relevant studies were eligible, of which 42 qualified for numerical data synthesis, 26 being retrospective studies. A data synthesis was performed by weighted means for survival/success/annual failure rates. Read More

    A method to preserve limbus during penetrating keratoplasty for a case of presumed PHACES syndrome with sclerocornea: A case report.
    Medicine (Baltimore) 2016 Oct;95(41):e4938
    aLimbal Stem Cell Laboratory, Department of Ophthalmology bCenter for Tissue Engineering, Chang Gung Memorial Hospital, Linkou cDepartment of Medicine dDepartment of Chinese Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan, R.O.C.
    Background: Sclerocornea, a congenital corneal pathology characterized by bilateral scleralization of the cornea, which can be found in few cases with posterior fossa malformationshemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe (PHACES) syndrome. Presence of vascularization in peripheral cornea and smaller diameter of recipient cornea correlate to poor outcome of penetrating keratoplasty (PKP) in sclerocornea. Here we report a method to preserve limbus during PKP for small, irregular, and scleralized cornea. Read More

    Christ-Siemens-Touraine syndrome with palmoplantar keratoderma: A rare association.
    Indian Dermatol Online J 2016 Sep-Oct;7(5):393-395
    Department of Dermatology and Venereology, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
    Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association. Read More

    Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
    Genes (Basel) 2016 Sep 19;7(9). Epub 2016 Sep 19.
    Guanghua School of Stomatology, Hospital of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-sen University, Guangzhou 510055, China.
    Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the teeth, hair, and sweat glands. Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and HED has not yet been validated. In this study, we included patients who presented at least two of the three ectodermal dysplasia features. Read More

    Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
    Haematologica 2016 Oct 9;101(10):1180-1189. Epub 2016 Sep 9.
    Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.
    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. Read More

    FGF and EDA pathways control initiation and branching of distinct subsets of developing nasal glands.
    Dev Biol 2016 Nov 30;419(2):348-356. Epub 2016 Aug 30.
    Department of Craniofacial Development and Stem Cell Biology, Guy's Hospital, King's College London, United Kingdom. Electronic address:
    Hypertrophy, hyperplasia and altered mucus secretion from the respiratory submucosal glands (SMG) are characteristics of airway diseases such as cystic fibrosis, asthma and chronic bronchitis. More commonly, hyper-secretion of the nasal SMGs contributes to allergic rhinitis and upper airway infection. Considering the role of these glands in disease states, there is a significant dearth in understanding the molecular signals that regulate SMG development and patterning. Read More

    Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis.
    Curr Probl Dermatol 2016 30;51:42-9. Epub 2016 Aug 30.
    Department of Dermatology, Graduate School of Medicine, Osaka University, Osaka, Japan.
    Sweating is regulated by various neurohormonal mechanisms. A disorder in any part of the sweating regulatory pathways, such as the thermal center, neurotransmitters in the central to peripheral nerve, innervation of periglandular neurotransmission, and sweat secretion in the sweat gland itself, induces dyshidrosis. Therefore, hereditary disorders with dyshidrosis result from a variety of causes. Read More

    Classification of Systemic and Localized Sweating Disorders.
    Curr Probl Dermatol 2016 30;51:7-10. Epub 2016 Aug 30.
    Hyperhidrosis can be subdivided into generalized hyperhidrosis, with increased sweating over the entire body, and focal hyperhidrosis, in which the excessive sweating is restricted to specific parts of the body. Generalized hyperhidrosis may be either primary (idiopathic) or secondary. Secondary generalized hyperhidrosis may be caused by infections such as tuberculosis, hyperthyroidism, endocrine and metabolic disturbances such as pheochromocytoma, neurological disorders, or drugs. Read More

    Pachyonychia congenita with late onset (PC tarda).
    Indian Dermatol Online J 2016 Jul-Aug;7(4):278-80
    Department of Dermatology, Maharajah's Institute of Medical Sciences, Nellimarla, Andhra Pradesh, India.
    Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. Read More

    [EDA mutation screening and phenotype analysis in patients with tooth agenesis].
    Beijing Da Xue Xue Bao 2016 Feb;48(1):686-91
    Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.
    Objective: To screen the ectodysplasin A (EDA) gene mutation in the patients with non-syndromic tooth agenesis and ectodermal dysplasia, and to analyze the phenotype of missing teeth pattern in these two groups of patients.

    Methods: In the study, 174 patients with tooth agenesis (143: non-syndromic, 31: ectodermal dysplasia) and 451 health control volunteers were enrolled from the clinic, and the genome DNA was extracted from either peripheral blood or oral mucosal swab. The coding region of EDA gene was then amplified by PCR, sequenced and blasted to online NCBI database. Read More

    Goltz syndrome: a rare case of father-to-daughter transmission.
    BMJ Case Rep 2016 Aug 16;2016. Epub 2016 Aug 16.
    Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
    An 8-year-old girl presented to us with skin-coloured to yellowish soft compressible papules, intermixed with hypopigmented and hyperpigmented macules in a Blaschkoid pattern, and 'lobster-claw deformity' affecting her bilateral feet. Additional examination findings included short stature, facial asymmetry, low-set ears, hypodontia, enamel hypoplasia, tonsillar enlargement and spina-bifida occulta at S1-3 vertebral level. A diagnosis of Goltz syndrome was suspected clinically, which was confirmed on skin biopsy. Read More

    Journey toward unraveling the molecular basis of hereditary hair disorders.
    J Dermatol Sci 2016 Dec 7;84(3):232-238. Epub 2016 Aug 7.
    Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan. Electronic address:
    Recent advances in molecular genetics have led to the identification of many genes expressed in hair follicle (HF), while the precise roles of these genes in the HF have not completely been disclosed. Using the methods of forward genetics, we and others have recently identified a series of genes responsible for hereditary hair disorders in humans, including monilethrix, woolly hair, and various ectodermal dysplasia syndromes. Furthermore, expression and functional analyzes have gradually revealed that these genes are directly or indirectly related with each other. Read More

    Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review.
    Indian J Dermatol 2016 Jul-Aug;61(4):468
    Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
    Dermatopathia pigmentosa reticularis (DPR) is a very rare autosomal dominant ectodermal dysplasia caused by mutations in keratin 14 and characterized by the triad of generalized reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. We report two Saudi brothers with DPR that had normal hair shafts, as assessed by scanning and transmission electron microscopy. Read More

    Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia.
    J Eur Acad Dermatol Venereol 2017 Feb 9;31(2):367-370. Epub 2016 Aug 9.
    Department of Dermatology and Venereology, "Sapienza" University of Rome, Rome, Italy.
    Background: Ectodermal dysplasia is a clinically and genetically heterogeneous group of inherited disorders characterized by abnormal development of two or more of the following ectodermal-derived structures: hair, teeth, nails and sweat glands. The hair is the most frequently affected structure. Hair shaft abnormalities are of great concern to these patients, but no effective treatments are available. Read More

    Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.
    Arch Oral Biol 2016 Nov 28;71:110-116. Epub 2016 Jul 28.
    Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Ibn Aljazzar street, 4031, Sousse, Tunisia. Electronic address:
    Background: Dental agenesis is the most common developmental anomaly in man and may present either as an isolated trait or as part of a syndrome, such as ectodermal dysplasia. Until now, the underlying molecular pathogenic mechanisms responsible for dental agenesis are still largely unknown. Several genetic and molecular studies have demonstrated that at least 300 genes are involved in tooth formation and development, coding for specific transcriptional factors, receptors or growth factors that are expressed at specific developmental stages. Read More

    Middle East J Anaesthesiol 2016 Jun;23(5):581-5
    Gomez-Lopez-Hernandez syndrome, also known as cerebello-trigeminal dermal dysplasia, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, and bilateral parietal alopecia. Associated clinical features include a characteristic facial appearance (mid-face hypoplasia, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, ataxia, developmental delay, short stature, and corneal opacities. Given the associated congenital anomalies, anesthetic care may be required for various surgical interventions. Read More

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