Results 61 to 70 of about 2,281 (168)

Fabry's disease manifesting as familial angiokeratoma corporis diffusum in an indian family – A rare occurrence!

open access: yesIndian Journal of Paediatric Dermatology, 2020
Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological)
Ishmeet Kaur   +3 more
doaj   +1 more source

Prosthetic rehabilitation for a patient with hypohidrotic ectodermal dysplasia: a clinical case

open access: yesBrazilian Journal of Oral Sciences, 2015
Hypohidrotic ectodermal dysplasia (HED) is a hereditary syndrome, characterized by a classic triad of hypotrichosis, hypodontia and hypohidrosis. The case of an 8-year-old girl with HED presenting oligodontia and marked resorption of maxillary and ...
Guna Shekhar   +3 more
doaj   +1 more source

Sudoscan as a noninvasive tool to assess sudomotor dysfunction in patients with Fabry disease: results from a case–control study

open access: yesTherapeutics and Clinical Risk Management, 2016
Pauline Sahuc,1 Laurent Chiche,2 Bertrand Dussol,3 Jean Pouget,1 Jérôme Franques1,2,4 1Department of Neurology, La Timone Hospital, APHM, Aix-Marseille University, 2Department of Internal Medicine, European Hospital, 3Department of ...
Sahuc P   +4 more
doaj  

Ectodermal dysplasia: Report of two cases in a family and literature review

open access: yesJournal 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

Hereditary Ectodermal Dysplasia in Two Identical Siblings

open access: yesActa Medica Bulgarica
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected.
Sarkar A. S., Rao K., Ajila V.
doaj   +1 more source

Hypohidrotic Ectodermal Dysplasia: Prosthetic Rehabilitation of a Rare Pediatric Case

open access: yesJournal of Primary Care Dentistry and Oral Health
Prosthetic management of hypohidrotic ectodermal dysplasia can be considered an early intervention for an affected child, not only to optimize esthetics and the functioning of the stomatognathic system but also to improve general nutrition and health ...
Monalisa Das, Mrinmay Aulia
doaj   +1 more source

Pemakaian Gigi Tiruan Sebagian Pada Penderita Ektodermal Displasia dengan Anondonsia Parsial

open access: yesJournal of Dentistry Indonesia, 2015
Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structure and their accessory appendeges. The main feature is hypohidrosis, hypotrichosis and hypodontia.
Rastia Indriyati   +2 more
doaj   +1 more source

Ectodermal dysplasia

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2009
Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an
Sonia Saggoo   +3 more
doaj   +1 more source

Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2016
Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate.
Shanmugasundaram Karthikeyani   +2 more
doaj   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

open access: yes
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

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