Results 41 to 50 of about 1,964 (150)

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

open access: yesContemporary Clinical Dentistry, 2015
The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked ...
Manisha Goyal   +3 more
doaj   +1 more source

Beneficial screening of Fabry disease in patients with hypohidrosis [PDF]

open access: green, 2021
Megumi Nagai‐Sangawa   +8 more
openalex   +1 more source

Presentation of hypohidrotic ectodermal dysplasia in two siblings

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2015
Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder.
Uday Ginjupally   +3 more
doaj   +1 more source

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

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature

open access: yesPediatric Dermatology, Volume 42, Issue 2, Page 305-310, March/April 2025.
ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Sarah Maarouf   +3 more
wiley   +1 more source

A case of miliaria profunda after excessive sweating during a summer vacation

open access: yesJEADV Clinical Practice, Volume 3, Issue 5, Page 1602-1605, December 2024.
Capsule Summary A 34‐year‐old healthy man presented with a 6‐week history of anhidrosis and heat intolerance after a trip to Mallorca. He experienced nonpruritic, transient papular lesions during overheating, accompanied by dizziness and palpitations.
Ariana Palacio   +5 more
wiley   +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

Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2010
Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi   +2 more
doaj  

Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study

open access: yesActa Dermato-Venereologica
This nationwide population-based study investigated the risk of death, infections, and hyperthermia in Danish patients with ectodermal dysplasia (ED). A validated cohort of ED patients (n = 396) and matched population comparators (n = 3960) was compared ...
Laura Krogh Herlin   +3 more
doaj   +1 more source

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

Home - About - Disclaimer - Privacy