Česká Stomatologie a Praktické Zubní Lékařství, 2013 Background: Ectodermal dysplasia is a rare, genetically determined disease, which is characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands.
L. Kramerová, E. Kaplová
doaj +1 more source
Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]
, 2008 Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando +4 more
core
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations [PDF]
, 2015 BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma.
Alan D. Irvine +72 more
core +5 more sources
Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Skin Appendage Disorders, 2020 Hypotrichosis with juvenile macular dystrophy is an autosomal recessive disorder due to a mutation in the CDH3 gene. As its name indicates, the disease classically presented with hypotrichosis and early visual impairment.
Azhar A. Ahmed +3 more
semanticscholar +1 more source
Symptomatic narcolepsy in a dog with functional pituitary gland macroadenoma
Veterinary Record Case Reports, Volume 13, Issue 2, June 2025.Abstract Symptomatic narcolepsy in dogs has been rarely reported. A 7‐year‐old, female, neutered Greek harehound presented with chronic progressive lethargy, dysphonia, episodes of flaccid paralysis of all limbs following excitement or eating, as well as pinnae and tail alopecia, hyperpigmentation and ‘rat tail’.
Christina Koufaki +4 more
wiley +1 more source
In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. [PDF]
PLoS ONE, 2014 Autosomal recessive hypotrichosis is a rare genetic irreversible hair loss disorder characterized by sparse scalp hair, sparse to absent eyebrows and eyelashes, and sparse axillary and body hair.
Syed Irfan Raza +6 more
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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
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Reproduction in Domestic Animals, Volume 60, Issue 5, May 2025.ABSTRACT This study describes a novel model of farm‐based congenital defect recording, with use of accessory data from a national breeding organisation. The study ran from 2014 to 2023 inclusive resulting in 522 reports of bovine congenital defects with additional data available for a subset (369/522).
Katie Quigley, John F. Mee
wiley +1 more source
Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype
Indian Journal of Dermatology, 2019 Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter +5 more
doaj +1 more source
A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]
, 2019 Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano +12 more
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