The tricho-rhino-phalangeal syndrome

Hornsby, V. P. L.; Pratt, Abimbola

doi:10.1016/s0009-9260(84)80152-x

Cited by 6 publications

(2 citation statements)

References 10 publications

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“…On radiologic examination, cone-shaped epiphyses of the middle phalanges are the most frequent finding, but changes of the proximal or distal phalanges can also be present. 18,25,26 In a study by Giedion 25 evaluating radiographs of 69 patients with TRPS I, 52% of affected individuals had short metacarpals. Less frequently, shortening of metatarsals is observed.…”

Section: Commentmentioning

confidence: 99%

Trichorhinophalangeal Syndrome Type I

Seitz

Lüdecke²,

Wagner³

et al. 2001

Arch Dermatol

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Section: Commentmentioning

confidence: 99%

Trichorhinophalangeal Syndrome Type I

Seitz

Lüdecke²,

Wagner³

et al. 2001

Arch Dermatol

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“…Our patient revealed all typical features of TRPS includ ing short stature, pear-shaped nose, lateral rarefaction of the eyebrows, thin upper lip, brachymetacaipalia and progres sive hair loss [4][5][6][7][8][9] and, in addition, a small protuberance [12. 13], Apart from the shortening of metacarpals, the radiographs of the hand skeleton in TRPS show coneshaped epiphyses which are regarded as an essential crite rion for the diagnosis of the TRPS [3, 9, 14.…”

Section: Discussionmentioning

confidence: 99%

Trichorhinophalangeal Syndrome

Böni

Böni²,

Tsambaos

et al. 1995

Dermatology

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Trichorhinophalangeal syndrome (TRPS) comprises a distinctive combination of hair, facial and bony abnormalities with variable expression. A 20-year-old man with TRPS was seen because of marked androgenetic alopecia. Scanning electron-microscopic studies of the hair revealed flattened hair with an elliptoid transverse section pattern. Mechanical behavior of the hair was abnormal with a significant increase in the viscous parameter, indicating a decreased intermolecular bridging within the keratin matrix. The dermatologist confronted with premature or marked alopecia in young adults should always consider the possibility of an underlying congenital syndrome involving the hair and prompt further investigation.

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Tricho-rhino-phalangeal syndrome type I in a Belgian family

et al. 1987

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We report three cases of tricho-rhino-phalangeal syndrome (TRPS) type I in a Belgian family. They presented typical characteristics such as a pear-shaped nose, and short, deformed fingers with cone-shaped epiphyses of some middle phalanges of the hands. Hair growth was practically normal in our patients, except for some narrowing of the lateral part of the eyebrows. Perthes-like hip dysplasia was documented in two of our cases. The proband presented at the age of 31 with Kienböch's disease of the right wrist. Blood and urine analysis showed no clear anomalies. In this patient, echography revealed a renal cyst containing a stone. The relationship of these findings to TRPS is discussed.

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The tricho-rhino-phalangeal syndrome

Cited by 6 publications

References 10 publications

Trichorhinophalangeal Syndrome Type I

Trichorhinophalangeal Syndrome Type I

Trichorhinophalangeal Syndrome

Tricho-rhino-phalangeal syndrome type I in a Belgian family

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