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American Journal of Physical Medicine & Rehabilitation:
doi: 10.1097/PHM.0b013e3182644034
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Cone-Shaped Epiphysis

Durmus, Oguz MD; Cakar, Engin MD; Ata, Emre MD; Dincer, Umit MD; Kiralp, Mehmet Zeki MD

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From the Department of Physical Medicine and Rehabilitation, Gulhane Military Medical Academy, Haydarpasa Training Hospital, Istanbul, Turkey.

All correspondence and requests for reprints should be addressed to: Oguz Durmus, MD, Department of Physical Medicine and Rehabilitation, Gulhane Military Medical Academy, Haydarpasa Training Hospital, Uskudar, Istanbul 34668, Turkey.

Financial disclosure statements have been obtained, and no conflicts of interest have been reported by the authors or by any individuals in control of the content of this article.

A 21-yr-old man presented with pain and deformities in his finger joints. He complained that his pain ensued after excessive use or when making a fist, but not during rest, and that his pain had been increasing over the last few years. He reported that his deformities are congenital and that his sisters have similar finger deformities. Palpation revealed tenderness in the second, third, and fourth proximal interphalangeal joints of both hands, with relatively increased joint circumference and minimal angulations in the proximal interphalangeal joints (Fig. 1A). He had a minimally lowered nasal root, minor pectus carinatus, and relatively thin hair. Radiologic evaluation of his hands identified cone-shaped epiphyses in the proximal interphalangeal joints of both hands (Fig. 1B). His toes were also dysmorphic (Fig. 1C, D). Scrotal ultrasonography was normal. Abdominal ultrasonography revealed an accessory spleen (1.5 cm in diameter). His bone turnover markers, thyroid hormones, parathyroid hormone, testosterone, and other laboratory analyses were normal. Because the patient’s morphologic and radiologic findings indicated a genetic problem rather than a rheumatologic disease, genetic consultation was requested. He was diagnosed with trichorhinophalangeal syndrome type 1. Surgical intervention was not considered for the deformities in his fingers. The patient was administered analgesic drugs and physiotherapy for pain.

FIGURE 1
FIGURE 1
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Trichorhinophalangeal syndrome type 1 is an autosomal-dominant condition that is characterized by a symptomatic triad of sparse hair, a pear-shaped nose, and finger deformities. Other possible findings of this condition include shortened foot bones, aseptic necrosis, pectus carinatus, micrognathia, hypoplastic mandible, winged scapulae, and scoliosis.1,2 Three phenotypes of this disease have been described.1,3 The diagnosis of trichorhinophalangeal syndrome is based on clinical and radiologic findings. Genetic analyses are particularly useful in cases with nonclassic presentation.3 Angular deformities in proximal interphalangeal joints and cone-shaped epiphyses are significant findings in patients with trichorhinophalangeal syndrome.2,3 The latter are characterized by a conical deformity at the phalangeal epiphysis, which causes collapse of the adjacent metaphysis in radiography. Although cone-shaped epiphyses are an important feature in many hereditary skeletal dysplasias, they are rarely present in healthy people.4

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REFERENCES

1. Al-Dosari MS, Alkuraya FS. : Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation. Clin Dysmorphol. 2010; 19: 98–100

2. Manger K, Nüsslein H, Schett G, et al. : Rare monogenetic syndromes in rheumatology practice. Clin Rheumatol. 2009; 28: 623–30

3. Vaccaro M, Guarneri F, Barbuzza O, et al. : A familial case of trichorhinophalangeal syndrome type I. Pediatr Dermatol. 2009; 26: 171–5

4. Hsu ST, Lee JYY, Chao SC. : Trichorhinophalangeal syndrome type 1. A case report and review of the literature. Dermatol Sinica. 1995; 13: 111–8

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