Dental Management of Hypohydrotic Ectodermal Dysplasia: A Case Report [PDF]
Journal of Mashhad Dental School, 2020 Introduction: Ectodermal dysplasia is a genetic rare disease, consisting of a group of abnormalities which are the results of the abnormal development of two or more embryonic ectoderm derivatives, such as the skin, hair, nail, sweat gland, tooth, and ...
Koorosh teymoornezhad +2 more
doaj +1 more source
Christ siemens touraine syndrome: A rare case report
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016 Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin.
N Retnakumari +2 more
doaj +1 more source
Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]
Clin Case RepABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S +4 more
europepmc +2 more sources
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function [PDF]
, 2015 BACKGROUND: Cornea plana (CNA) is a hereditary congenital abnormality of the cornea characterized by reduced corneal curvature, extreme hypermetropia, corneal clouding and hazy corneal limbus.
Bertelsen, Birgitte +6 more
core +4 more sources
Prosthodontic management of anhidrotic ectodermal dysplasia
Indian Journal of Dental Research, 2011 Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent
Shilpy Gupta, Parimala Tyagi
doaj +1 more source
Effect of hairless gene polymorphism on the breeding values of milk production traits in Valle del Belice sheep [PDF]
, 2013 The aim of this work was to assess the association between the hairless genotypes and estimated breeding values (EBVs) for milk yield (MY), fat (FAT) and protein (PRT) content in Valle del Belice dairy sheep breed.
MASTRANGELO, Salvatore +3 more
core +1 more source
Monilethrix: A rare case diagnosed by dermoscopy
Indian Journal of Paediatric Dermatology, 2020 Monilethrix is a rare genodermatosis characterized by hair shaft dysplasia, which is responsible for hypotrichosis. We present the case of a 2-year-old female, with involvement of the scalp, eyebrows, and eyelashes, in whom dermoscopy enabled a rapid ...
Aditya Rajendra Holani +3 more
doaj +1 more source
Ectodermal dysplasia: Report of two cases in a family and literature review
Journal of Family Medicine and Primary Care, 2019 Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi +3 more
doaj +1 more source
PSS14 VALIDATION OF THE EYELASH SATISFACTION FOLLOW-UP QUESTIONNAIRE FOR FOLLOW-UP SELF-ASSESSMENT OF EYELASH SATISFACTION [PDF]
, 2002 Recent hypotheses on the action of antidepressants imply a modulation of excitatory amino acid transmission. Here, the effects of long-term antidepressant application in rats with the drug tianeptine were examined at hippocampal CA3 commissural ...
Burgess, SM +6 more
core +2 more sources
Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report [PDF]
, 2015 Introduction: Ectodermal dysplasia (ED) is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin.
Bajraktarova, B. +6 more
core +3 more sources