A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis [PDF]
, 1996 6 páginas, 2 figuras.A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature (Kljuic et al. 2003a; Rafique et al.
Moss, Celia +5 more
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Marie-Unna Hereditary Hypotrichosis
International Journal of Trichology, 2014 Marie-Unna type of hereditary hypotrichosis is a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age. It is characterized by sparse or absent hair at birth with regrowth of coarse, wiry twisted hair from childhood, followed by progressive loss on approaching puberty.
Srinivas, Sahana M, Hiremagalore, Ravi
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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
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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
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Regenerative Potential of Adipose Tissue-Derived Exosomes in Treating Hair Shaft Abnormalities: A Case Report. [PDF]
Case Rep Dermatol MedHair shaft abnormalities, often linked to genetic or acquired conditions, present significant treatment challenges with limited and inconsistent therapeutic success. This report describes an eight‐year‐old female with severe hair shaft abnormality, unresponsive to standard treatments, including topical minoxidil and platelet‐rich plasma therapy, who ...
Nilforoushzadeh MA +3 more
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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
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Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. [PDF]
, 2016 IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair.
Arno, G +11 more
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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
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Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities [PDF]
, 2018 Hallermann-Streiff syndrome is a rare congenital disorder that is characterized by malformations of the craniofacial region with ocular abnormalities. Some ophthalmic signs can be observed in early age and some in adulthood.
Bausz Mária +4 more
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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