Incontinentia pigmenti burden scale: designing a family burden questionnaire

Taïeb, C.; Hadj‐Rabia, S.; Monnet, Jacques; Bennani, Maria; Bodemer, Christine

doi:10.1186/s13023-019-1234-y

Cited by 6 publications

(6 citation statements)

References 20 publications

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“…These results are not unexpected, since the ED-BD questionnaire was designed for parents. Indeed, the results are coherent with previous studies on the quality of life among parents of children with genodermatoses ( 10 , 12 ).…”

Section: Discussionsupporting

confidence: 91%

“…Recently, burden questionnaires have been designed for several rare skin diseases, allowing for a better understanding of the global impact (psychological, socio-economic and physical) of these conditions on patients and their families (9)(10)(11)(12). We propose here a validated, self-administered family/parental burden questionnaire designed for parents and families of young patients with ED.…”

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confidence: 99%

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The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score

Dufresne,

Maincent,

Taieb

et al. 2023

Acta Derm Venereol

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Ectodermal dysplasias are genetic conditions affecting the development and/or homeostasis of 2 or more ectodermal derivatives, including hair, teeth, nails, and certain glands. No tool is available to assess the burden of ectodermal dysplasias and its multidimensional impact on patients and their families. This study developed and validated a familial/parental 19-item burden questionnaire designed specifically for ectodermal dysplasias. Each group of questions was linked to 1 of the following dimensions: (i) Impact of the disease on social life and hobbies; (ii) Future prospects; (iii) Restraint of the disease on outdoor activities; (iv) Financial burden of the disease; (v) Acceptance of the disease. Cronbach’s alpha was 0.91 for the entire Ectodermal Dysplasias-Burden of Disease (ED-BD) scale, confirming excellent internal coherence. Intradimensional coherences all demonstrated excellent reliability (α > 0.76). The ED-BD questionnaire was highly correlated with the Short Form-12 and Psychological General Well Being Index validated questionnaires. Cultural and linguistic validation in US English was conducted. Development and validation of the questionnaire was based on data from patients with the 2 main ectodermal dysplasias subtypes. This ED-BD questionnaire represents the first specific assessment tool for evaluating the familial/parental burden of ectodermal dysplasias.

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Section: Discussionsupporting

confidence: 91%

mentioning

confidence: 99%

The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score

Dufresne,

Maincent,

Taieb

et al. 2023

Acta Derm Venereol

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“…As there is no curative treatment, early diagnosis, mainly through the cutaneous features, is important for genetic counselling and timely therapeutic intervention. The psychological, social, economic and physical burden of disease for patients and their families is sometimes very high and should be noted during anamnesis [17]. Case series such as the current one contribute to understanding the natural history of the disease and help increase awareness among clinicians.…”

Section: Discussionmentioning

confidence: 96%

Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

Hübner

Schwieger‐Briel

Technau‐Hafsi

et al. 2021

J Deutsche Derma Gesell

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Background and objectives: Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system.Patients and methods: This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically. Results:The study included 28 females and two males with a median age of three years. Cutaneous manifestations were present in all 20 patients with clinical data. Stage I was observed in 90 % of those patients. Stage IV was observed as early as one year of age. Dental (81 %), hair (78 %) and neurological anomalies (53 %) were more frequent than previously reported. Fourteen skin biopsies showed typical features of the corresponding stage. Genetic testing of 24 patients revealed the common exon 4-10 deletion in 14 cases and seven other pathogenic variants, including three unpublished mutations. In another three cases, no genetic alterations were found. Conclusions:In this study, the phenotype ranged from only subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous involvement should be evaluated at the time of diagnosis and in regular intervals, as some manifestations may develop over time.

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“…Da es keine kurative Behandlung gibt, ist eine frühe Diagnose, vor allem durch Hautveränderungen, wichtig für die genetische Beratung und rechtzeitige therapeutische Intervention. Die psychische und soziale sowie wirtschaftliche und körperliche Belastung der Patienten und ihrer Familien ist teils sehr hoch und sollte anamnestisch erfasst werden [17]. Fallserien wie diese tragen zum Verständnis des natürlichen Krankheitsverlaufs bei und helfen das Bewusstsein unter Klinikern zu verbessern.…”

Section: Diskussionunclassified

Phänotypisches und genetisches Spektrum von Incontinentia pigmenti – eine große Fallserie

Hübner

Schwieger‐Briel

Technau‐Hafsi

et al. 2022

J Deutsche Derma Gesell

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ZusammenfassungHintergrundIncontinentia pigmenti ist eine seltene X‐chromosomal dominant vererbte Systemerkrankung, die vor allem die Haut, aber auch andere neuroektodermale Gewebe wie Zähne, Haare, Augen und das zentrale Nervensystem betrifft.Patienten und MethodikDiese multizentrische Fallserienstudie wurde an drei europäischen Hautkliniken durchgeführt und umfasste 30 Patienten mit Incontinentia pigmenti. Zwanzig Patienten wurden klinisch und genetisch untersucht, weitere zehn nur genetisch.ErgebnisseDie Studie umfasste 28 Frauen und zwei Männer mit einem medianen Alter von drei Jahren. Kutane Manifestationen zeigten sich bei allen 20 Patienten mit klinischen Daten. Stadium I wurde in 90 % dieser Patienten beobachtet. Stadium IV wurde bereits im Alter von einem Jahr beobachtet. Zahn‐ (81 %), Haar‐ (78 %) und neurologische Anomalien (53 %) waren häufiger als in bisherigen Berichten. Vierzehn Hautbiopsien zeigten typische Merkmale des entsprechenden Stadiums. Genetische Tests wurden bei 24 Patienten durchgeführt, von denen 14 die häufige Exon 4‐10‐Deletion und sieben andere pathogene Varianten aufwiesen, darunter drei unveröffentlichte Mutationen. In drei weiteren Fällen wurden keine genetischen Veränderungen gefunden.SchlussfolgerungenIn dieser Studie reichte der Phänotyp von lediglich subtil ausgeprägter Hautbeteiligung bis hin zu schweren Multisystemerkrankungen. Die extrakutane Beteiligung sollte zum Zeitpunkt der Diagnose und in regelmäßigen Abständen evaluiert werden, da sich einige Manifestationen erst mit der Zeit entwickeln.SummaryBackground and objectivesIncontinentia pigmenti is a rare X‐linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system.Patients and methodsThis multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically.ResultsThe study included 28 females and two males with a median age of three years. Cutaneous manifestations were present in all 20 patients with clinical data. Stage I was observed in 90 % of those patients. Stage IV was observed as early as one year of age. Dental (81 %), hair (78 %) and neurological anomalies (53 %) were more frequent than previously reported. Fourteen skin biopsies showed typical features of the corresponding stage. Genetic testing of 24 patients revealed the common exon 4–10 deletion in 14 cases and seven other pathogenic variants, including three unpublished mutations. In another three cases, no genetic alterations were found.ConclusionsIn this study, the phenotype ranged from only subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous involvement should be evaluated at the time of diagnosis and in regular intervals, as some manifestations may develop over time.

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Incontinentia pigmenti burden scale: designing a family burden questionnaire

Cited by 6 publications

References 20 publications

The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score

The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score

Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

Phänotypisches und genetisches Spektrum von Incontinentia pigmenti – eine große Fallserie

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