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International Journal of Case Reports and Images, Vol. 10, 2019. ISSN: 0976-3198
Int J Case Rep Images 2019;10:101012Z01CR2019. www.ijcasereportsandimages.com
Bouimetarhan et al. 1
CASE REPORT PEER REVIEWED | OPEN ACCESS
Polyarthralgia revealing a trichorhinophalangeal syndrome: A case report and review of the literature
Lamiae Bouimetarhan, Ayouche Othman, Rachida Dafiri
ABSTRACT
Introduction: Trichorhinophalangeal dysplasia (TRPS) or Langer-Giedion syndrome is a rare genetic disease belonging to the acrodysplasia group. It is an autosomal dominant disorder, characterized by hair growth, nose and phalanges anomalies. Its prevalence is unknown. This syndrome is due to chromosomal microdeletion of variable size in the region 8 q24.12 resulting in the loss of at least two genes: TRPS1 and EXT1. Individuals with TRPS type 1 have a long range of orthopedic problems ranging from hyper laxity to osteochondritis that develop in adolescence but may be occur in infancy resulting in limited mobility and psychological impact. The diagnosis of this dysplasia is based primarily on clinical and radiological features which allows radiology to be the management cornerstone of this syndrome. Case Report: A 13-year-old girl with polyarthralgia was diagnosed with this syndrome. The genomic study and radiological assessment were in favor of the diagnosis. A medical treatment was administered with a favorable evolution. There were no sign of articular degeneration in the follow up examination. Conclusion: Management of Langer-Giedion syndrome must start with genetic counseling to establish an early diagnosis in order to preserve the functional prognosis. The favorable evolution under medical treatment makes it possible to avoid further surgery
Lamiae Bouimetarhan1, Ayouche Othman1, Rachida Dafiri1
Affiliation: 1Children’s hospital, Mohamed V University, Ra-bat, Morocco.Corresponding Author: Lamiae Bouimetarhan, Children’s hospital, Mohamed V University, Rabat, Morocco; Email: [email protected]
Received: 27 December 2018Accepted: 07 February 2019Published: 20 March 2019
in patients with TRPS by proposing a simple radiological monitoring.
Keywords: Polyarthralgia, Radiography, Tri-chorhinopharyngeal dysplasia, Thymic hyper-plasia
How to cite this article
Bouimetarhan L, Ayouche O, Dafiri R. Polyarthralgia revealing a trichorhinophalangeal syndrome: A case report and review of the literature. Int J Case Rep Images 2019;10:101012Z01CR2019.
Article ID: 101012Z01CR2019
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doi: 10.5348/101012Z01LB2019CR
INTRODUCTION
Trichorhinophalangeal dysplasia (TRPS) or Langer-Giedion syndrome is a rare genetic disease belonging to the acrodysplasia group. It is an autosomal dominant disorder, characterized by hair growth, nose and phalanges anomalies. This syndrome is due to chromosomal microdeletion of variable size in the region 8 q24.12 resulting in the loss of at least two genes: TRPS1 and EXT1. Individuals with TRPS type 1 have a long range of orthopedic problems ranging from hyperlaxity to osteochondritis that develop in adolescence but may be occur in infancy resulting in limited mobility and psychological impact. The clinical and radiological features are major criteria for diagnosis of this dysplasia [1].
CASE REPORT
A 13-year-old girl, who was diagnosed by her school doctor for bone deformities of the hands and feet,
International Journal of Case Reports and Images, Vol. 10, 2019. ISSN: 0976-3198
Int J Case Rep Images 2019;10:101012Z01CR2019. www.ijcasereportsandimages.com
Bouimetarhan et al. 2
addressed to our unit for follow-up. The medical history of our patient revealed that the child was born of a consanguineous marriage. She is the last of three sibling family. Her 19-year-old brother and his 18-year-old sister had the same bone deformities but they never consulted. On clinical examination,it was found that there was a stature and weight regression (-2 SD), short and sparse hair, and a bulbous nose.
There was a bilateral clinodactyly of the last two phalanges of the middle finger and the ring finger with shortening of the little finger, and at the feet level the clinodactyly affected the second Hallux. The radiographic assessment of the hands revealed a bilateral misalignment of the last two phalanges of the fingers predominant at the level of the middle finger, the ring finger and the little finger. An irregular and curved aspect of the metaphyses of the middle phalanges (inverted V) and epiphyses of conical shape. There was also a last left metacarpal shortening (Figure 1).
The feet X-rays examination had shown a bilateral misalignment of the last phalanx of the Hallux with irregular and curved aspect of the proximal metaphyses of the first phalanx of the two Hallux and a conical deformation of the opposite epiphyses (Figure 2). The pelvis radiographs had shown a bilateral involvement of the femoral head, which was flattened and carried by a short neck, as well as widened and deformed in varus (Figure 3). The set of clinical and radiological abnormalities allowed us to evoke the diagnosis of Trichorhinophalangeal dysplasia Type 1 (TRPS1). This was confirmed by the genetic study which revealed an interstitial chromosomal deletion of 8q24.12.
DISCUSSION
Trichorhinophalangeal dysplasia (TRPS) is a rare hereditary dysplastic syndrome belonging to the
group of acrodysplasia. It is a malformation syndrome characterized by a small size, sparse hair, a bulbous nose, conical epiphyses, as well as phalangeal, metacarpal and metatarsal shortening.
Three types of TRPS were described (Table 1), among them Types 1 and 3 are variants of the same entity [2].The association of intellectual deficit and the presence of numerous abnormalities, particularly multiple exostoses, distinguish Tricho-rhino-phalangeal dysplasia Type 2, also known as Langer-Giedion syndrome.
TRPS is an inherently autosomal dominant disease. The mutation of the gene involved is localized in 8q24.12. Sporadic cases have been reported in Type 2 [1–3].
Figure 1: Anteroposterior projection of hand radiograph shows bilateral misalignment of the second and last phalanges of the middle finger and the ring finger with shortening of the last left metacarpal. Curved metaphyses and conical epiphyses can be noticed.
Figure 2: A feet radiograph in anteroposterior projection shows bilateral clinobrachydactyly of the hallux last phalanx. Curved metaphyses and conical epiphyses are observed.
Figure 3: A pelvic radiograph in anteroposterior projection shows bilateral pseudo-osteochondritis of the hip.
International Journal of Case Reports and Images, Vol. 10, 2019. ISSN: 0976-3198
Int J Case Rep Images 2019;10:101012Z01CR2019. www.ijcasereportsandimages.com
Bouimetarhan et al. 3
The diagnosis of TRPS is based on clinical and radiological aspects. Antenatal diagnosis based on DNA is possible if the mutation in the family has been identified [4] which suggest that DNA studies can be interesting in screening for these dysplasia.
Clinically, patients with tricho-rhino-phalangeal dysplasia type 1 have sparse hair, a bulbous pear-shaped nose and a type of hands and feets clinodactyly and brachydactyly. it is also characterized by delicate and fragile nails and a slight staggering delay [4–6].
Trichorhinophalangeal dysplasia type 3 has the same characteristics as type 1, except that stunting and brachydactyly are more severe.
Regarding patients with tricho-rhino-phalangeal type 2 dysplasia, they have in addition to the listed above characters, multiple exostosis, a hyperextension joints anomaly, microcephaly with prominent ears, excess skin, and severe mental retardation [7–9].
On the radiological level, the anomalies observed involve extremities in particular. At there is enlargement, irregularities and curvature of the middle phalanges metaphysis which will take an “inverted V” shape. A reduction of the growth cartilage with a premature epiphyses welding. This metaphyseal asymmetry development is responsible for a clinodactyly of the corresponding phalanx. We observed that the index and middle fingers are usually the most involved, also epiphyses the proximal or distal phalanges. The densification of the epiphysis of the latter is frequent. Another characteristic anomaly of this dysplasia is metacarpal shortening [10, 11].
The pelvic radiographs finds femoral epiphyses developmental anomalies. Unilateral involvement is frequent. The femoral head appears to be crushed and deformed with insufficient coverage as it can be observed in the sequelae of the osteochondritis. For some authors, femoral epiphyses deformations are the result of an osteochondritis gone unnoticed [10, 11].
Table 1 [12] describes all the features of the three types of Trichorhinophalangeal dysplasia. The differentials of TRPS includes other syndromes which associates hair growth and structural abnormalities of the nose as well as an osteoarticular involvement: Larsen syndrome, oro - digito - facial syndrome, Coffin - Siris chondrodysplasia and McKusick. Although considered
rare, trichorhinophalangeal dysplasia remains the most frequent syndrome to date [4].
Management should begin with genetic counseling, as early diagnosis can better prevent joint damage and preserve functional prognosis.
In case of pain the analgesics for short duration therapies with a radiologic monitoring. Orthopedic surgery is often necessary to maintain joint mobility. It is sometimes necessary to replace a damaged joint, especially in case of hip involvement, with a prosthesis [4]. Plastic surgery can sometimes be necessary to correct the facial dysmorphism in case of aesthetic discomfort.
In our case, the patient was managed by analgesics for short duration with radiologic monitoring as well as genetic counseling for the family. To this day, there was no necessity to provide joint replacement surgery.
CONCLUSION
Management of Langer-Giedion syndrome must start with genetic counseling to establish an early diagnosis in order to preserve the functional prognosis. The favorable evolution under medical treatment makes it possible to avoid further surgery in patients with TRPS by proposing a simple radiological monitoring.
REFERENCES
1. Lüdecke HJ, Schaper J, Meinecke P, et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 2001;68(1):81–91.
2. Chen CP, Lin SP, Liu YP, et al. An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. Gene 2013;529(1):176–80.
3. Candamourty R, Venkatachalam S, Karthikeyan B, Babu MR. Trichorhinophalangeal syndrome type 1: A case report with literature review. J Nat Sci Biol Med 2012;3(2):209–11.
4. Lüdecke HJ, Schmidt O, Nardmann J, et al. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Hum genet 1999;105(6):619–28.
Table 1: Features of the three types of Trichorhinophalangeal dysplasia.
TRPS Type 1 TRPS Type 2 TRPS Type 3
• Sparse, depigmented, and slow growing hair;
• Dystrophic nails.• Small breasts.• Short stature.• Short feet.• Brachydactyly with ulnar or radial
deviation of the fingers. • Hip dysplasia.
• Sparse, depigmented, and slow growing hair;• Dystrophic nails.• Small breasts.• Short stature.• Short feet.• Brachydactyly with ulnar or radial deviation
of the fingers.• Hip dysplasia.• osteochondromas.• Intellectual disability.
• Fine, thin light-colored hair • A pear-shaped or rounded
(bulbous) nose;• An abnormally long prominent
groove in the upper lip.• Delayed eruption of teeth.• Severe shortening of the fingers
and toes (brachydactyly)
International Journal of Case Reports and Images, Vol. 10, 2019. ISSN: 0976-3198
Int J Case Rep Images 2019;10:101012Z01CR2019. www.ijcasereportsandimages.com
Bouimetarhan et al. 4
5. Marques SA, Miot HA, Miot LDB, Marques MEA. Você conhece esta síndrome? Do you know this syndrome? An Bras Dermatol 2005;80(1):85–8.
6. Giedion A. Tricho-rhino-phalangeal syndrome. [Article in German]. Helv paediatr Acta 1966;21(5):475–85.
7. Langer LO Jr, Krassikoff N, Laxova R, et al. The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): Four additional patients without mental retardation and review of the literature. Am J Med Genet 1984;19(1):81–112.
8. Carvalho DR, Santos SC, Oliveira MD, Speck-Martins CE. Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion. Am J Med Genet A 2011;155A(11):2784–7.
9. Shanske AL, Patel A, Saukam S, Levy B, Lüdecke HJ. Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet A 2008;146A(24):3211–6.
10. El Mhabrech H, Gamaoun W, Arifa N, et al. Melorheostosis: A radiological and clinical case report. [Article in French]. J Radiol 2007;88(3 Pt 1):397–400.
11. Giedion A. Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann’s disease. Clin Orthop Relat Res 1976;(114):107–15.
12. Maas S, Shaw A, Bikker H, Hennekam RCM. Trichorhinophalangeal Syndrome. In: Adam MP, Ardinger HH, Pagon RA, editors. et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019.
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Author ContributionsLamiae Bouimetarhan – Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Ayouche Othman – Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be publishedRachida Dafiri – Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone.
Consent StatementWritten informed consent was obtained from the patient for publication of this case report.
Conflict of InterestAuthors declare no conflict of interest.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Copyright© 2019 Lamiae Bouimetarhan et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
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