The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.
DeepGestalt
GestaltMatcher
Non‐photosensitivity
trichothiodystrophy
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
Aug 2024
Aug 2024
Historique:
revised:
18
06
2024
received:
08
03
2024
accepted:
18
07
2024
medline:
9
8
2024
pubmed:
9
8
2024
entrez:
9
8
2024
Statut:
ppublish
Résumé
Non-photosensitive trichothiodystrophies (TTDs) are a diverse group of genodermatoses within the subset of conditions known as "sulphur-deficient brittle hair" syndromes. A part of them has only recently been identified, revealing novel causative genes and very rare phenotypes of these genetic skin disorders. At the same time, the molecular basis of previously published and unresolved cases has been revealed through the introduction of innovative genetic techniques. We have previously described the facial phenotype of patients with the Photosensitive form of TTD during childhood. This study marks the beginning of an effort to expand the analysis to include individuals of the same age who do not have photosensitivity. A total of 26 facial portraits of TTD paediatric patients with Non-photosensitivity from the literature were analysed using computer-aided technologies, and their facial features were examined through a detailed clinical review. Distinct facial features were identified in both Photosensitive and Non-photosensitive TTDs. The present study has comprehensively elucidated the facial features in TTDs, encompassing the Non-photosensitive clinical spectrum.
Sections du résumé
BACKGROUND
BACKGROUND
Non-photosensitive trichothiodystrophies (TTDs) are a diverse group of genodermatoses within the subset of conditions known as "sulphur-deficient brittle hair" syndromes. A part of them has only recently been identified, revealing novel causative genes and very rare phenotypes of these genetic skin disorders. At the same time, the molecular basis of previously published and unresolved cases has been revealed through the introduction of innovative genetic techniques. We have previously described the facial phenotype of patients with the Photosensitive form of TTD during childhood. This study marks the beginning of an effort to expand the analysis to include individuals of the same age who do not have photosensitivity.
METHODS
METHODS
A total of 26 facial portraits of TTD paediatric patients with Non-photosensitivity from the literature were analysed using computer-aided technologies, and their facial features were examined through a detailed clinical review.
RESULTS
RESULTS
Distinct facial features were identified in both Photosensitive and Non-photosensitive TTDs.
CONCLUSION
CONCLUSIONS
The present study has comprehensively elucidated the facial features in TTDs, encompassing the Non-photosensitive clinical spectrum.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e2501Informations de copyright
© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
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