Diagnosis of X-Linked Hypohidrotic Ectodermal Dysplasia by Meibography and Infrared Thermography of the Eye

Kaercher, Thomas; Dietz, Jasna; Jacobi, Christina; Berz, Reinhold; Schneider, Holm

doi:10.3109/02713683.2014.967869

Cited by 15 publications

(10 citation statements)

References 29 publications

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“…Meibomian glands produce the lipid portion of the tear film that slows down evaporation and subsequently prevents dry eye (Arita et al, 2017). These glands are greatly reduced or absent in humans (Kaercher et al, 2015), mice (Gaide and Schneider, 2003), and dogs (shown here) with XLHED. Therefore, dry eye requiring daily lubrication is a significant problem found in affected patients, with development of corneal lesions and scarring if left untreated in humans (Dietz et al, 2013) and dogs (Casal et al, 2007).…”

Section: Discussionmentioning

confidence: 71%

Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model

Margolis

Schneider

Huttner

et al. 2019

J Pharmacol Exp Ther

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X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by defects in the EDA gene that inactivate the function of ectodysplasin A1 (EDA1). This leads to abnormal development of eccrine glands, hair follicles, and teeth, and to frequent respiratory infections. Previous studies in the naturally occurring dog model demonstrated partial prevention of the XLHED phenotype by postnatal administration of recombinant EDA1. The results suggested that a single or two temporally spaced injections of EDI200 prenatally might improve the clinical outcome in the dog model. Fetuses received ultrasound-guided EDI200 intra-amniotically at gestational days 32 and 45, or 45 or 55 alone (of a 65-day pregnancy). Growth rates, lacrimation, hair growth, meibomian glands, sweating, dentition, and mucociliary clearance were compared in treated and untreated XLHED-affected dogs, and in heterozygous and wild-type control dogs. Improved phenotypic outcomes were noted in the earlier and more frequently treated animals. All animals treated prenatally showed positive responses compared with untreated dogs with XLHED, most notably in the transfer of moisture through paw pads, suggesting improved onset of sweating ability and restored meibomian gland development. These results exemplify the feasibility of ultrasound-guided intra-amniotic injections for the treatment of developmental disorders, with improved formation of specific EDA1-dependent structures in dogs with XLHED.

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Section: Discussionmentioning

confidence: 71%

Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model

Margolis

Schneider

Huttner

et al. 2019

J Pharmacol Exp Ther

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“…Of the >170 clinically defined ectodermal dysplasias (Priolo and Lagana 2001; Visinoni et al 2009; Pagnan and Visinoni 2014), X-LHED is most frequently observed (Schneider et al 2011; Fete et al 2014; Kaercher et al 2015). Genetic mutations in EDA disrupt EDA signaling, which results in hypoplastic development of epithelial tissues.…”

Section: Discussionmentioning

confidence: 99%

Defective NaCl Reabsorption in Salivary Glands of Eda-Null X-LHED Mice

et al. 2018

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Mutations in the ectodysplasin A gene ( EDA) cause X-LHED (X-linked hypohidrotic ectodermal dysplasia), the most common human form of ectodermal dysplasia. Defective EDA signaling is linked to hypoplastic development of epithelial tissues, resulting in hypotrichosis, hypodontia, hypohidrosis, and xerostomia. The primary objective of the present study was to better understand the salivary gland dysfunction associated with ectodermal dysplasia using the analogous murine disorder. The salivary flow rate and ion composition of the 3 major salivary glands were determined in adult Eda-deficient Tabby hemizygous male (Ta/Y) and heterozygous female (Ta/X) mice. Submandibular and sublingual glands of Eda-mutant mice were smaller than wild-type littermates, while parotid gland weight was not significantly altered. Fluid secretion by the 3 major salivary glands was essentially unchanged, but the decrease in submandibular gland size was associated with a dramatic loss of ducts in Ta/Y and Ta/X mice. Reabsorption of Na and Cl, previously linked in salivary glands to Scnn1 Na channels and Cftr Cl channels, respectively, was markedly reduced at high flow rates in the ex vivo submandibular glands of Ta/Y mice (~60%) and, to a lesser extent, Ta/X mice (Na by 14%). Consistent with decreased Na reabsorption in Ta/Y mice, quantitative polymerase chain reaction analysis detected decreased mRNA expression for Scnn1b and Scnn1g, genes encoding the β and γ subunits, respectively. Moreover, the Na channel blocker amiloride significantly inhibited Na and Cl reabsorption by wild-type male submandibular glands to levels comparable to those observed in Ta/Y mice. In summary, fluid secretion was intact in the salivary glands of Eda-deficient mice but displayed marked Na and Cl reabsorption defects that correlated with the loss of duct cells and decreased Scnn1 Na channel expression. These results provide a likely mechanism for the elevated NaCl concentration observed in the saliva of affected male and female patients with X-LHED.

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“…Although representing no improvement on current practice, IRT illustrated marked temperature differences between children with XLHED and the healthy controls and was shown to be a quick and reliable tool to be used in conjunction with other methods of diagnosis. 36 …”

Section: Irt In Childrenmentioning

confidence: 99%

Infrared thermography in paediatrics: a narrative review of clinical use

Owen

Ramlakhan

2017

bmjpo

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BackgroundInfrared thermography (IRT) has been used in adult medicine for decades, but recent improvements in quality of imaging and increasing computer processing power have allowed for a diversification of clinical applications. The specific usage of IRT in a paediatric population has not been widely explored, so this article aims to summarise the available literature in this area. IRT involves the non-contact, accurate measurement of skin surface temperature to identify temperature changes suggesting disease. IRT could well have unique applications in paediatric medicine.MethodsElectronic searches were performed independently by two authors, using the databases of MEDLINE (via Web of Science), the Cochrane Library, CINAHL (EBSCO) and Scopus, including articles published from 1990 to July 2016. The search strategy that was used aimed to include articles that covered the topics of IRT and children, including studies with participants 18 years old or younger. Articles were screened by title and abstract by two authors. Meta-analysis was not performed due to the marked heterogeneity in applications, study design and outcomes: this is a narrative summary of the available literature.ResultsIRT has been shown to be an effective additional diagnostic tool in a number of different paediatric specialties, namely in fracture screening, burns assessment and neonatal monitoring. Small measurable skin temperature changes can effectively add to the clinical picture, while computer-tracking systems can be reliably used to focus investigations on particular areas of the body.ConclusionThroughout this review of the available literature, there has been a general consensus that this non-invasive, non-irradiating and relatively inexpensive technology may well have a place in the management of paediatric patients in the future.

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Diagnosis of X-Linked Hypohidrotic Ectodermal Dysplasia by Meibography and Infrared Thermography of the Eye

Cited by 15 publications

References 29 publications

Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model

Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model

Defective NaCl Reabsorption in Salivary Glands of Eda-Null X-LHED Mice

Infrared thermography in paediatrics: a narrative review of clinical use

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