Trichorhinophalangeal Syndrome

Yáñez, Sonsoles; Hernández-Vicente, Isidoro; Armijo, M.

doi:10.1111/j.1365-4362.1992.tb01377.x

Cited by 11 publications

(6 citation statements)

References 13 publications

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“…Clinically, osteochondroma usually presents as a solitary tumor. When multiple—hereditary multiple exostosis—the association with Langer–Giedron or tricorrinophalangic syndrome should be considered 1,12 . All our cases corresponded to the solitary osteochondroma variety, and no further associations were sought for.…”

Section: Discussionmentioning

confidence: 94%

Subungual Osteochondroma: Clinical and Radiologic Features and Treatment

et al. 2004

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Section: Discussionmentioning

confidence: 94%

Subungual Osteochondroma: Clinical and Radiologic Features and Treatment

et al. 2004

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“…Musculoskeletal abnormalities include brachydactyly, deviation of the phalanges, and a typical radiographic finding of cone-shaped epiphyses [7,10]. Hip malformations, low stature, nail dystrophy, and "racket" nails are other common findings [10,13,14].…”

Section: Discussionmentioning

confidence: 99%

Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report

García-García

Herz‐Ruelas

Gómez‐Flores

et al. 2020

Skin Appendage Disord

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Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disease characterized by trichologic, craniofacial, and musculoskeletal abnormalities. Predominant clinical features include a pear-shaped nose with bulbous tip, long philtrum, protruding ears, and sparse hair on both the scalp and the lateral third of the eyebrows. Cone-shaped epiphyses are a common radiographic finding. Loose anagen syndrome (LAS) is a sporadic or autosomal dominant condition due to abnormalities in the hair’s anchoring mechanism. It mostly affects children, who usually have reduced hair length, as well as hair that is easily plucked without pain. Recent contributions regarding trichoscopic findings of LAS have been made, describing rectangular black granular structures as a typical feature. An association between TRPS and LAS has been mentioned by hair experts, but no reports documenting this have been published. This case demonstrates the co-existence of both conditions in a patient with characteristic phenotypic traits of TRPS and LAS.

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“…The baby had hypotrichosis of the scalp hair, bulbous nose, and redundant skin. In addition, he had aplasia of the epiglottis and congenital nephrotic syndrome (non-Finish type) and died at the age of 11 d. Yáñez et al 5 reported a 21-year-old female with TRPS (most likely type 3) who was found to have bilateral ureterovesical junction obstruction at the age of 7. She had recurrent urinary tract infections, nephrolithiasis, and progressed to chronic renal insufficiency.…”

Section: Discussionmentioning

confidence: 99%

“…Lu et al 4 II Congenital nephrotic syndrome Died in neonatal period Yáñez et al 5 III Billateral uretrovesical junction obstruction Progressed to terminal renal failure Wilson et al 6 II VUR Rossi et al 7 I VUR Ramos et al 8 II VUR Female Prune Belly syndrome Howell and Wynne-Davies 17 ? Hydroureter Lemke and Pirsig 18 ?…”

Section: Author/ref Trps-type Renal and Urogenital Abnormality Remarkmentioning

confidence: 99%