Hypohidrotic ectodermal dysplasia is a heritable disease, characterized by hypodontia, hypotrichosis, and anhidrosis. This clinical report demonstrates prosthetic rehabilitation of a patient complaining of impaired mastication and the odd appearance of ...
Heba Alajami, Jamal Saker
doaj +1 more source
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations [PDF]
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
Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature
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
Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype
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
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A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]
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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Hair fragility (trichorrhexis nodosa) in alopecic Pomeranian dogs
Background – Alopecia associated with hair cycle arrest (HCA, Alopecia X) is well‐recognised in Pomeranian dogs. The authors are unaware of reports of hair fragility in affected dogs. Hypothesis/Objectives – Following the observation of frequent hair shaft abnormalities in alopecic Pomeranians, we hypothesised that hair fragility events would be more ...
Erin Brennan+6 more
wiley +1 more source
Über Hypotrichosis Congenita Universalis [PDF]
n ...
openaire +3 more sources
Hair 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 ...
Mohammad Ali Nilforoushzadeh+4 more
wiley +1 more source
PSS14 VALIDATION OF THE EYELASH SATISFACTION FOLLOW-UP QUESTIONNAIRE FOR FOLLOW-UP SELF-ASSESSMENT OF EYELASH SATISFACTION [PDF]
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
An evaluation of the safety and efficacy of bimatoprost for eyelash growth in pediatric subjects
Mark Borchert,1 Suzanne Bruce,2 David Wirta,3 Steven G Yoelin,4 Sungwook Lee,5 Cheri Mao,5 Amanda VanDenburgh5 1Children’s Hospital Los Angeles, Los Angeles, CA, USA; 2Suzanne Bruce and Associates, PA, Houston, TX, USA; 3David Wirta and Associates,
Borchert M+6 more
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