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Case Reports
. 2017 Jul 22;5(4):486-489.
doi: 10.3889/oamjms.2017.138. eCollection 2017 Jul 25.

Trichorhinophalangeal Syndrome

Mario Vaccaro  1 , Georgi Tchernev  2 , Uwe Wollina  3 , Torello Lotti  4 , Claudio Guarneri  5
Affiliations
Case Reports

Trichorhinophalangeal Syndrome

Mario Vaccaro et al. Open Access Maced J Med Sci. .

Abstract

Trichorhinophalangeal syndrome (TRPS) is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic. The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

Keywords: Trichorhinophalangeal syndrome; congenital; differential diagnosis; radiological imaging; skeletal abnormalities.

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Figures

Figure 1
Figure 1
Physical examination showing skeletal abnormalities (pectus excavatum and left hand) and darkening of the skin of the lateral thorax
Figure 2
Figure 2
Particular of the hand: note the lateral deviations and deformations of the interphalangeal joints
Figure 3
Figure 3
Brown to dark discoloration of the lateral part of the thorax.
Figure 4
Figure 4
Dermoscopy of the affected area (original magnification x60)
Figure 5
Figure 5
Partial removal of the pigmentation
See this image and copyright information in PMC

References

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