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CASE REPORT
Year : 2007  |  Volume : 25  |  Issue : 1  |  Page : 43-45
 

Clinical and intraoral findings of a patient with tricho-rhino-phalangeal syndrome type I


1 Department of Orthodontics, Gulhane Military Medical Academy, Ankara, Turkey
2 Department of Periodontology, Gulhane Military Medical Academy, Ankara, Turkey
3 Department of Genetics, Gulhane Military Medical Academy, Ankara, Turkey
4 Department of Pedodontics, Gulhane Military Medical Academy, Ankara, Turkey

Correspondence Address:
S Karacay
Gulhane Military Medical Academy, Department of Orthodontics, 06018, Etlik-Ankara
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.31990

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   Abstract 

Tricho-rhino-phalangeal syndrome (TRPS) is a rare and an autosomal dominant disorder having the following characteristics: slowly growing sparse hair, medially thick, and laterally thin eyebrows, bulbous tip of the nose, long flat philtrum and thin upper lip with vermilion border, protruding ears, cone-shaped epiphyses and swelling. Our report intends to introduce TRPS to the dental literature and to present oral, clinical, and radiological data of a patient with TRPS. A rare association of supernumerary teeth was also diagnosed and one of them was extracted as it impeded on the eruption path of left premolar tooth.


Keywords: Supernumerary teeth, tricho-rhino-phalangeal syndrome


How to cite this article:
Karacay S, Saygun I, Tunca Y, Imirzalioglu N, Guvenc G. Clinical and intraoral findings of a patient with tricho-rhino-phalangeal syndrome type I. J Indian Soc Pedod Prev Dent 2007;25:43-5

How to cite this URL:
Karacay S, Saygun I, Tunca Y, Imirzalioglu N, Guvenc G. Clinical and intraoral findings of a patient with tricho-rhino-phalangeal syndrome type I. J Indian Soc Pedod Prev Dent [serial online] 2007 [cited 2019 Jul 22];25:43-5. Available from: http://www.jisppd.com/text.asp?2007/25/1/43/31990



   Introduction Top


Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant disorder. The condition may have been recognized first by Van der Ten Bosch [1] in 1959 but the details of the disorder were first described by Giedion [2] in 1966.

Clinical manifestations in TRPS are very heterogeneous and three distinct subtypes have been classified as I, II, and III. Sparse, thin, and slowly growing hair has been described in all variations of TRPS. The facial features are usually common for all the types. Type II, which is also known as  Langer-Giedion syndrome More Details, is characterized by multiple cartilaginous exostoses that are hallmark of this variant. [2],[3],[4],[5],[6],[7][8] In addition, mental retardation, microcephaly, loose skin, slight growth retardation, shortening of hands and feet and redundant skin are also reported in type II. [3],[5] The rarest and most recently recognized form of TRPS is type III, which is characterized by severe growth retardation. [5],[7]

In this paper, oral, clinical, and radiological data of a patient with TRPS type I was introduced and three supernumerary teeth, which is a rare symptom of the syndrome, were presented.


   Case Report Top


A 14-year-old female patient with tricho-rhino-phalangeal type I syndrome demonstrated the classic facial features of the syndrome including pear shaped nose with a bulbous tip, long flat philtrum, thin upper vermilion border, protruding ears and thinning of the lateral portion of the eyebrows [Figure - 1]. She had typically fine, sparse hair with poor quality, breaking and pulling out easily and her parents mentioned that her hair was growing slowly. The patient's fingers were irregularly short and the nails were also short, thin, and broad [Figure - 2]. Despite the deviation of fingers and brachydactyly with painless swelling at the inter-phalangeal joints, joint movements were normal. Intelligence, stature, and axial skeleton of the patient were normal as well.

On intra-oral examination, a persistent primary second molar, slight malalignment of mandibular anterior teeth, deep bite, and class I molar relationship were observed [Figure - 3]. Periapical radiograph of the persistent primary molar revealed a supernumerary tooth along the eruption path of the lower right second premolar. Radiographic evaluation showed two more impacted supernumerary teeth on mesial and distal sides of the root of lower left second premolar [Figure - 4]a, b. Extraction of the primary second molar and the supernumerary tooth was inevitable to allow the eruption of the impacted right second premolar tooth. However, the other supernumerary teeth on the left side did not have any harmful effect so no intervention was planned for them.

Skeletal characteristics of the cranio-facial structures were evaluated by cephalometric analysis. It was determined that SNA angle (angle between sella, nasion, and point A) was 80 and SNB angle (angle between sella, nasion, and point B) was 77 and these values indicated that anteroposterior development of the maxilla and mandible was within the normal limits and the relationship between the upper and lower jaws was class I. Cephalometric radiograph is presented in [Figure - 5].


   Discussion Top


The designation 'TRPS' was originally used to describe a disorder characterized by specific abnormalities of hair, nose and digits. This syndrome has been divided into three subgroups as type I, II, and III.

TRPS I is characterized by the cranio-facial changes, skin and skeletal abnormalities. Cranio-facial abnormalities include a bulbous pear-shaped nose, a long phitrum, a thin upper lip and maxillary prognathism with mandibular hypoplasia, receding chin with prominent mento labial groove, large, and laterally protruding ears. Skin appendages are clinically characterized by fine, brittle, sparse, slowly growing, usually light colored scalp hair with high frontal hairline, poorly developed eyelashes at the lateral portions, brittle, and fragile slow growing finger and toe nails. Skeletal abnormalities include multiple shaped epiphyses of the digits of the hands and feet. [2],[4],[6] TRPS II or Langer-Giedion syndrome can be distinguished from the other types by the presence of multiple exostoses and redundant skin. [5],[9],[10] Sometimes, microcephaly and mental retardation are also found in this type. Differential findings of type III are severe postnatal growth retardation, severely short metacarpals with bulbous ends, cone-shaped epiphyses and phalanges. [11],[12] Our patient's facial appearance and hands were appropriate with TRPS. The findings of normal mentation, stature, and axial skeleton and absence of exostoses favor the categorization of this patient into type I of the syndrome. Sparse and thin, slowly growing hair has been described in all variations of TRPS and these features were also observed in our patient.

Cephalometric analysis revealed normal development of maxilla and mandible. Although some authors have mentioned receding chin on extraoral examination, it has not been shown by cephalometric analysis before. In some previous case reports hypoplastic mandible, mid-facial hypoplasia, high-arched palate, thin upper lip and bulge under lower lip, pear-shaped and bulbous nose, elongated philtrum, large laterally protruding ears have been presented. The findings of lip, ear, nose, and elongated philtrum were observed in our patient, but other orofacial symptoms were not detected.

The most interesting intra-oral finding in the presented case was, three impacted supernumerary teeth, which were diagnosed after the evaluation of periapical radiographs. Existence of supernumerary teeth is a rarely described association with TRPS. Goodman et al . [13] were the first who detected a supernumerary tooth and Peterson and Thomas [14] also reported a supernumerary incisor in TRPS. Our finding was consistent with these investigators in describing a case of TRPS with supernumerary teeth. To our knowledge, our patient was the first one who has been reported with three impacted supernumerary teeth.

Most of the patients with TRPS have not been evaluated from the view of intra-oral findings before. We observed that our patient did not have severe periodontal pathology or dental caries. However, supernumerary teeth may be a common finding for TRPS. Therefore, we suggest that all patients with TRPS should undergo full clinical and radiographic oral examination.

 
   References Top

1.Van der Werff Ten Bosch JJ. The syndrome of brachymetacarpal dwarfism (pseudo-pseudohypoparathyroidism) with and without gonodal dysgenesis. Lancet 1959;1:69-71.  Back to cited text no. 1  [PUBMED]  
2.Giedion A. Tricho-rhino-phalangeal syndrome. Helv Paediatr Acta 1966;21:475-85.  Back to cited text no. 2  [PUBMED]  
3.Wiedemann HR, Kunze J, Grosse FR, Dibbern H. An atlas of clinical syndromes: A visual aid to diagnosis for clinicians and practicing physicians. Wolfe Publishing Ltd.: London, England; 1992.  Back to cited text no. 3    
4.Carrington PR, Chen H, Altick JA. Trichorhinophalangeal syndrome, type I. J Am Acad Dermatol 1994;31:331-6.  Back to cited text no. 4  [PUBMED]  
5.Bühler EM, Malik NJ. The tricho-rhino-phalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities? Am J Med Genet 1984;19:113-9.   Back to cited text no. 5    
6.Seitz CS, Lüdecke HJ, Wagner N, Br φcke EV, Hamm H. Trichorhinophalangeal syndrome type I, clinical and molecular characterization of 3 members of a family and 1 sporadic case. Arch Dermatol 2001;137:1437-42.   Back to cited text no. 6    
7.Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G. Trichorhinophalangeal syndrome type III. Dermatology 1996;193:349-52.  Back to cited text no. 7  [PUBMED]  
8.Howell CJ, Wynne-Davies R. Tricho-rhino-phalangeal syndrome: A report of 14 cases in 7 kindreds. J Bone Joint Surg Br 1986;68:311-4.  Back to cited text no. 8  [PUBMED]  [FULLTEXT]
9.Bauermeister S, Letts M. The orthopaedic manifestations of the Langer-Giedion syndrome. Orthop Rev 1992;21:31-5.  Back to cited text no. 9  [PUBMED]  
10.Bühler EM, Bühler UK, Christen R. Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? Hum Genet 1983;64:163-6.  Back to cited text no. 10    
11.Kajii T Fernandez-Gonzalez I, Matsuura S. Tricho-rhino-phalangeal syndrome type III. Am J Med Genet 1994;49:349-50.  Back to cited text no. 11    
12.Nagai T, Nishimura G, Kasai H, Hasegawa T, Kato R, Ohasha H, et al . Another family with Tricho-rhino-phalangeal syndrome type III (Sugio-Kajii-Syndrome). Am J Med Genet 1994;49:278-80.  Back to cited text no. 12    
13.Goodman RM, Trilling R, Hertz N, Horoszowski H, Merlob P, Reisner S. New clinical observations in the trichorhinophalangeal syndrome. J Craniofac Genet Dev Biol 1981;1:15-29.  Back to cited text no. 13    
14.Peterson A, Thomas PS. Abnormal modeling of the humeral head in the tricho-rhino-phalangeal syndrome: A new radiological observation. Australas Radiol 2000;44:325-7.  Back to cited text no. 14    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]


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