Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Jan-Feb;98(1):122-125.
doi: 10.1016/j.abd.2021.09.018. Epub 2022 Nov 4.

Tricho-rhino-phalangeal syndrome - clinical, trichoscopic and radiological images

Evelyn Freitas Rodrigues  1 , Lisa Gava Baeninger  2 , Caroline Romanelli  2
Affiliations
Case Reports

Tricho-rhino-phalangeal syndrome - clinical, trichoscopic and radiological images

Evelyn Freitas Rodrigues et al. An Bras Dermatol. 2023 Jan-Feb.
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
Patient’s (B and C) phenotypic characteristics (A). Pear-shaped nose, diffuse hair rarefaction, more intense in the frontotemporal regions. Close up view of the pear-shaped nose (D). Joint deformities in the feet and hands (E and F).
Figure 2
Figure 2
Trichogram. (A) Trichoscopic analysis under optical microscopy showing normal hair shafts. (B) At the highest magnification, normal telogen hairs are observed. (C) Trichoscopy was normal, although it showed fine hairs corresponding to hypotrichosis.
Figure 3
Figure 3
Hand x-ray showing coned epiphyses in the middle phalanges (yellow arrows).
See this image and copyright information in PMC

References

    1. Kim Y.J., Yoon B., Han K., Park B.C. Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps I Trichorhinophalangeal Syndrome Type I Patient. Ann Dermatol. 2017;29:597–601. - PMC - PubMed
    1. Noltorp S., Kristoffersson U.L., Mandahl N., Stigsson L., Svensson B., Werner C.O. Trichorhinophalangeal syndrome type I: symptoms and signs, radiology, and genetics. Ann Rheum Dis. 1986;45:31–36. - PMC - PubMed
    1. Maas S, Shaw A, Bikker H, Hennekam RCM. Trichorhinophalangeal Syndrome. NCBI Bookshelf. Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK425926/#tps.Clinical_Characteristics.
    1. Trippella G., Lionetti P., Naldini S., Peluso F., Monica M.D., Stagi S. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature. Ital J Pediatr. 2018;44:138. - PMC - PubMed
    1. Rué M., Lüdecke H.J., Sibon I., Richez C., Taine L., Foubert-Samier A., et al. Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I. Eur J Med Genet. 2011;54:e405–408. - PubMed

Publication types

LinkOut - more resources