Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I

Abstract

The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.

Trichorhinophalangeal Syndrome Type 1: Unusual Case Report and Review of Literature

“…The low stature of our patient (Figure 1) also occurs in most patients as shown by Flores-Cuevas, et al [21], Sohn, et al [23] and Nan, et al [25]. The typical facial phenotype of the syndrome is present in all the clinical cases analyzed and is in line with the facial phenotype of the case presented [2,. Although mental retardation and bone exostosis are typical characteristics of type 2 syndrome, they were present in type 1 syndrome in the cases of Brodwall, et al The presence of cleft lip had not been correlated as part of the spectrum of patients with TRPS1, as well as the dehiscence of cartilage in the nose and palpebral eyelid ptosis.…”

“…Regarding the presence of unilateral left lip cleft and absence nasal cartilage in our patient, we noted that only Maas, epiphyses of the hands, besides the occurrence of hip and joint abnormalities [2,32]. Bone exostoses are uncommon in TRPS1 and more common in type 2, but it may occur in isolation [33].…”

“…Comparing the findings in our case to those reported in the studies observed in this paper, it is possible to associate new manifestations with TRPS1, especially in the head and oral tract. Systematically, the telangiectatic skin and elongated fingers stand out instead of shortening, as reported in most cases [2,[30][31][32][33][34][35]. Other manifestations such as short stature, joint and hip problems coincide with the re-…”

“…Trichorhinophalangeal syndrome type 1 [TRPS1; (OMIM #190350)] is characterized by being a rare autosomal dominant alteration due to chromosome 8q24 mutation or deletion, in the TRPS1 gene [1]. It is suggested that this gene may be involved with the regulatory activity of bone mineralization, besides the maturation and apoptosis of chondrocytes [2]. Andreas Giedion and Leonard O Langer Jr were the first researchers to describe the syndrome in 1966 [3].…”

Trichorhinophalangeal Syndrome

“…It presents diffuse rarefaction of the hair, with a pattern of noncicatricial alopecia, fine and short hair, rarefaction of the distal third of the eyebrow, bulbous nose and enlargement of the nasolabial filter, fine upper lip, micrognathism, short stature, brachydactyly, curved feet and shortening of some metacarpals shaped nose, elongated filter, thin upper lip and bone alterations, particularly cone-shaped epiphyses in the fingers (distinctive feature of the syndrome) [1][2][3][4][5], TRPS type II, which is associated with microcephaly and mental retardation, cartilaginous exostoses and others more severe osteoarticular manifestations; and TRPS type III, a type I proximal variant, which is phenotypically differentiated by the accentuation of shortening of the phalanges, metacarpals and metatarsals, and of short stature [2]. Other phenotypic alterations may be associated and are described in Table 1.…”