Trichothiodystrophy type 4 in an Indian family

Pande, Shruti; Shukla, Anju; Girisha, Katta M.

doi:10.1002/ajmg.a.61794

Cited by 4 publications

(1 citation statement)

References 11 publications

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“…Trichothiodystrophy (TTD) is a rare, autosomal recessive disease resulting from mutations of DNA repair genes such as ERCC3 (XPB), ERCC2 (XPD), or GTF2H5 (TTDA) in photosensitive phenotypes; nonphotosensitive patients may have mutations in GTF2E2 or C7orF11 and the ring finger protein RNF113A [ 1 , 2 , 3 , 4 , 5 ]. TTD can be associated with a broad range of clinical manifestations, from only hair abnormalities characterized by sulfur-deficient coarse fragile hair to severe neuroectodermal symptoms.…”

Section: Introductionmentioning

confidence: 99%

A Young Boy with Brittle Hair

et al. 2022

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Trichothiodystrophy (TTD) is a rare multisystem disorder with an autosomal recessive mode of inheritance. TTD presentations vary from only hair abnormalities like brittle, fragile hair to physical and mental retardation. Mutations of DNA repair genes have been identified as responsible for the disease. A 5-year-old boy presented with sparse, short, and brittle hair to our clinic. He was born to consanguineous parents. Trichoscopy and light microscopy revealed broken hairs with no specific shaft defect. Due to the inaccessibility of the polarized microscopy, a bedside technique was employed. We used a polarized dermatoscope and a mirror in order of achieving transillumination of the hair shafts, which revealed striking bright and dark bands. These bands are referred to as “tiger tail,” which is the pathognomonic sign of TTD. Subsequent polarizing microscopy also confirmed the clinical diagnosis. This highlighted a feasible method for observing the tiger tail, which expanded the known clinical diagnostic tools of TTD.

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Section: Introductionmentioning

confidence: 99%

A Young Boy with Brittle Hair

et al. 2022

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A novel MPLKIP‐variant in three Finnish patients with non‐photosensitive trichothiodystrophy type 4

Strang‐Karlsson

Willebrand

Avela

et al. 2021

American J of Med Genetics Pt A

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Trichothiodystrophy is a group of multisystem neuroectodermal disorders with dysplastic hair as the cardinal symptom. We describe three patients from two Finnish families in whom whole‐exome sequencing revealed a novel homozygous variant, c.26del, p.(Pro9Glnfs*144) in the MPLKIP‐gene, confirming the diagnosis of non‐photosensitive trichothiodystrophy type 4 (TTD4). The variant was confirmed by Sanger sequencing and inherited from unaffected carrier parents. This report adds to the literature by expanding the genetic and phenotypic spectra of MPLKIP‐related trichothiodystrophy. We describe dysmorphic features in the patients and provide a comparison of clinical characteristics in patients with TTD4 reported to date.

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The face of Non‐photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population

Pascolini,

Lipari,

Gaudioso

et al. 2024

Molec Gen & Gen Med

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BackgroundNon‐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.MethodsA 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.ResultsDistinct facial features were identified in both Photosensitive and Non‐photosensitive TTDs.ConclusionThe present study has comprehensively elucidated the facial features in TTDs, encompassing the Non‐photosensitive clinical spectrum.

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Trichothiodystrophy type 4 in an Indian family

Cited by 4 publications

References 11 publications

A Young Boy with Brittle Hair

A Young Boy with Brittle Hair

A novel MPLKIP‐variant in three Finnish patients with non‐photosensitive trichothiodystrophy type 4

The face of Non‐photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population

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