The Knee 19 (2012) 500–503
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The Knee
Case reports
Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia Eric L. Altschuler a,⁎, Richard S. Yoon c, Richard Dentico b, Frank A. Liporace c a b c
Clinical Physical Medicine and Rehabilitation, Department of Physical Medicine and Rehabilitation UMDNJ – New Jersey Medical School Newark, NJ 07103, USA Department of Physical Medicine and Rehabilitation, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ, USA Division of Orthopaedic Trauma, Department of Orthopaedic Surgery, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ, USA
a r t i c l e
i n f o
Article history: Received 27 April 2011 Received in revised form 24 August 2011 Accepted 12 September 2011 Keywords: Goltz syndrome Goltz disease Focal dermal hypoplasia Patella fracture Osteomyelitis
a b s t r a c t We report the first case of the assessment and treatment of a spontaneous patellar fracture in a patient with Goltz syndrome—a rare dermal hypoplasia. This case illustrates the non-straightforward presentation of a spontaneous patellar fracture in seemingly osteoporotic bone stock further complicated by the inability to rule out osteomyelitis. In this confusing presentation, a high index of suspicion for patella fracture should be maintained for patients with knee pain and osteoporosis on x-ray with a dysplastic syndrome. © 2011 Elsevier B.V. All rights reserved.
1. Introduction Goltz disease, or focal dermal hypoplasia, is an extremely rare genetic disorder first described by RW Goltz in 1962 [1]. Worldwide, only 200–300 cases have been reported. The exact incidence and prevalence are unknown [2]. The disorder is an X-linked dominant syndrome characterized inutero by cribiform atrophy with increased or decreased pigment often along Blaschko lines, which are cutaneous lines of embryogenesis [3]. Eye, skeletal, teeth, nail and soft tissue abnormalities—atrophic linear hypo- or hyperpigmented patches, fat herniation through dermal defects, and multiple papillomas of the mucous membranes or skin may occur [4,5]. Key features of this syndrome include female sex, osteopathia striata (linear bands of increased radiodensity which can often extend from the metaphyses of tubular bones into the diaphyses), coloboma (a fissure or gap in the eyeball potentially involving the eyelid, iris, retina, lens or optic nerve), absent ectodermis-, mesodermis-, and neurodermis-derived elements and lobster claw deformity [2,3,6,7]. These are manifested clinically by linear hypoplastic skin lesions and vertical striations of long bones, dental anomalies including hypodontia, oligodontia, microdontia, enamel fragility and dysplasia, retarded eruption and malocclusion. Skeletal anomalies include asymmetric involvement of the hands and feet in 60% of patients, including syndactyly, ectrodactyly, polydactyly, absence or hypoplasia of digits and even absence of an extremity. Cervical rib has been
⁎ Corresponding author. Tel.: + 1 973 972 5439; fax: + 1 973 972 5725. E-mail address:
[email protected] (E.L. Altschuler). 0968-0160/$ – see front matter © 2011 Elsevier B.V. All rights reserved. doi:10.1016/j.knee.2011.09.005
reported. Scoliosis occurs in 20% of cases. Skeletal asymmetry, clavicular dysplasia and spina bifida occulta can occur [5]. Recently, deficiencies in the PORCN gene, a key regulator in embryonic morphogenesis and body axis specification Wnt pathway, has been associated as the root cause for Goltz syndrome [8–10]. With genetic disruption occurring so early on in the morphogenetic process, variable phenotypic mosaicism leads to an unpredictable micro to macroscopic impact of several organ systems [2,3,9]. Thus, even the simplest case can turn into a confounding, misleading presentation, offering an extremely challenging environment for diagnosis and treatment. In this case report, we present a 45 year-old woman with Goltz syndrome who presented with radiographic findings characterizing osteomyelitis, but instead was found have an infection-free fracture of the patella with no initial specific history of trauma. To our knowledge, this is the first report of a spontaneous patella fracture and management in a patient with Goltz syndrome found in the literature. However, due to the non-straightforward nature of this patient's patella fracture, clouded by a picture of osteomyelitis, the purpose of this report is to suggest a heightened awareness for fracture possibility in patients with rare hypoplasia conditions, especially in situations of atypical presentation. 2. Case report A 45 year-old woman with a past medical history significant for Goltz syndrome presented to the emergency department (ED) with complaints of left knee pain. The pain occurred spontaneously a day prior while walking up stairs. The patient initially denied a history of trauma to the knees, however later revealed she did sustain a fall not associated with the onset of pain. The pain was described as a
E.L. Altschuler et al. / The Knee 19 (2012) 500–503
burning, sharp aching pain made worse with weight bearing, stair climbing, and rising from a chair. The pain was localized to the anterior aspect of the left knee, rated as a 10/10. The patient was placed in a knee brace and discharged home on opiates and axillary crutches with follow-up in the physical medicine and rehabilitation (PM&R) clinic in 2 weeks. At the PM&R clinic, the patient reported minimal pain relief and denied the presence of fever, chills, or other constitutional symptoms. The patient had diffuse areas of hypopigmentation, bilateral lobster claw hand deformities and severe bilateral lower extremity lymphedema. There was questionable erythema of the left knee anteriorly (Fig. 1), but this could just be dermatologic presentation of Goltz syndrome, and no clear swelling. Palpation of the left knee revealed mild warmth, but exquisite tenderness of the patella and the medial joint line. The knee could be ranged passively from full extension to eighty degrees of flexion. The patient could actively flex the knee as well through this range. Active extension was limited to the patient being able to extend her knee about ten degrees with the knee being set passively by the physician in thirty degrees of flexion from vertical (extensor lag of twenty degrees). Sensation was normal and strength testing on the left was limited by pain. There was positive patella apprehension, but no ligamentous laxity. The menisci could not be assessed due to pain. Radiographs were interpreted as showing gross destruction of the anterior cortex of the patella with extension into the midbody along with surrounding soft tissue swelling suggestive of prepatellar bursitis or abscess consistent with osteomyelitis (Fig. 2A–B). However, given the patient's lack of constitutional symptoms, or signs in the knee exam to indicate an acute infection the presumptive diagnosis was prepatellar bursitis. The patient was discharged home on opiates and levofloxacin PO 500 mg daily—given a possibility of osteomyelitis—with instructions to return to the ED with any signs of infection; intravenous antibiotics were not provided due to significant generalized lymphedema in addition to the presence of a penicillin allergy. The patient returned in 1 week with no change in symptoms or clinical exam. Magnetic resonance imaging (MRI) of the left knee was obtained. Analysis yielded a small prepatellar collection indicative of either bursitis or infection with concomitant destruction of the patella and what seemed to be a pathologic fracture in the inferior pole of the patella (Fig. 3). Repeat radiographs of the left knee indeed indicated a fracture in the distal third of the patella with slight inferior migration of the distal fragment (Fig. 4A–B). The preoperative diagnostic differential included spontaneous fracture of the patella secondary to osteoporotic changes (visible on radiographs) or a potentially pathologic process as well as osteomyelitis. Preparations to address all possibilities included consultation to the orthopedic traumatologists and oncologists. Preoperative surgical planning included initial ruling out of a potential tumor and infective processes via intraoperative frozen section, gram stain and culture, and if negative, proceeding with fracture
Fig. 1. Questionable erythema over left knee found on initial physical examination.
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Fig. 2. A–B. Initial radiographs demonstrating cortical destruction, signs of osteopenia, and soft tissue swelling prompting a rule out osteomyelitis diagnosis.
repair. Cancer, in particular, giant cell tumor, was on the differential as it has been reported among patients with focal dermal hypoplasia [2,11]. Definitive treatment of the patellar fracture was preceded by biopsy and intraoperative frozen section. Intraoperative frozen section revealed less than 1 polymorphonuclear cell per high power field, which was later confirmed by the absence of inflammation on final pathologic diagnosis and workup. Thus, with no presence of malignancy or infection along with an unreconstructible, osteoporotic distal third of the patella, definitive treatment via partial patellectomy with excision of the distal bony fragment and repair of the patellar tendon to the proximal patella, was performed (Fig. 5A–B). The cartilage of all three compartments as well as the menisci and cruciate ligaments appeared grossly unaffected. The patient was placed in a cylinder cast with a window for wound care and allowed to weight bear as tolerated. Approximately 4 weeks post-operative follow-up, the cast was removed and the patient was placed in a Bledsoe hinged knee brace with crutch assistance and returned to physical therapy three times per week for prone active flexion and passive extension therapy. At 8 weeks post-operative follow-up, the knee brace and crutches were discontinued with steady progression to active flexion and active extension over the following 6 weeks. At 6-month followup the patient was pain-free with active range of motion from 5 to 100 degrees with a well-healed patella. 3. Discussion Focal dermal hypoplasia is defined by a syndromic presentation of specific key features including female sex, osteopathia striata (linear bands of increased radiodensity which can often extend from the
Fig. 3. Sagittal cut of T2 MRI exhibiting pathologic fracture (arrow) of left patella with surrounding patellar destruction and soft tissue swelling.
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Fig. 4. A–B. Repeat AP and lateral radiographs of the left knee exhibiting fracture at the distal third, inferior pole of the patella (arrow).
metaphyses of tubular bones into the diaphyses), coloboma (a fissure or gap in the eyeball potentially involving the eyelid, iris, retina, lens or optic nerve), absent ectodermis-, mesodermis-, and neurodermisderived elements and lobster claw deformity [1,2]. An incredibly rare disease, this genetic disorder, linked to a deficiency in PORCN, a regular of cell differentiation signaling, causes several defects in embryologic development leading to the widespread defects [6,9]. Clinically, this disorder, due to the its shear small number reported, only in the few hundreds, makes diagnosis, treatment and risk factor stratification an extremely difficult process. The purpose of this report highlights diagnostic difficulty in these patients, even when concerning a typically straightforward diagnosis of fracture, this case highlights the confusing presentation associated with a spontaneous patellar fracture likely occurring secondary to osteoporosis, presenting with findings which were not inconsistent with osteomyelitis. In retrospect, it is clear from the clinical history and examination that a significant infection was an unlikely cause of the patient's pain. However, during prospective assessment of this patient with Goltz syndrome reaching the final diagnosis was clouded by several factors throughout the work-up. First and foremost, the history itself did not provide an immediately obvious clinical picture. However, despite mild erythematous skin, inability to bear weight and a constant, burning, aching pain that was not relieved with acetominophen, the setting of spontaneous pain on ascending stairs, later admission of possible knee trauma, along with an inability to extend the knee all without constitutional symptoms should have directed the diagnosis more towards spontaneous fracture (osteoporotic or possibly
pathologic) and not osteomyelitis [12]. Imaging studies, which usually provide objective information that typically confirms diagnosis, in this case, led to false positive results that delayed diagnosis and management. The decision to involve the orthopedic oncologic team was also made not only due to radiographic analysis, but also due to reports, albeit few, in the literature associating a potential increased prevalence in giant cell tumor in Goltz syndrome patients [2,11]. Furthermore, although rare, giant cell tumors of the patella have been reported, with history consistent with our patient's sudden onset of spontaneous acute pain and then subsequent fracture [13–16]. Thus, proceeding with the oncologic team initially in order to maintain clean margins should a neoplasm be present, biopsy and intraoperative pathologic analysis allowed for the confirmation of acute fracture without the presence of infection or neoplastic activity. This allowed for definitive treatment in addition to confirmatory diagnosis, allowing for restoration of a functional extensor mechanism, articular congruity, and pain-free range of motion [12,17–19]. In conclusion, confirming diagnoses in patients with Goltz syndrome can prove to be a difficult and challenging task. Despite advances in imaging, obvious diagnoses are not always clear, even with highly sensitive and specific objective measures of diagnostic assessment [20]. Inconclusive studies may require open biopsy in order to determine the proper management pathway. However, although Goltz syndrome patients can provide a vexing and unique clinical presentation, and despite a paucity of literature available to stratify and identify any risk factors, understanding the underlying genetic defects can help lead to a valid conclusion in regards to the potential for spontaneous fracture secondary to low bone density as denoted by radiographic changes displayed in our case. With a germline mutation which in turn affects every embryological level, including the mesoderm, which is responsible for bone and collagen formation, it is not surprising to find that deformed bone leading to fragility is possible. Likely denoted by the striata typically found in the patient's focal dermal hypoplasia, these likely represent uneven distributions of bone leading to an abnormal architecture, increasing risk for fracture. This case highlights the first such clinical manifestation of spontaneous fracture possible in this unique patient population followed by successful fracture repair and outcome. Further studies, including scientific models at the molecular level are required to further define the true etiology of the abnormal bony make-up affecting these patients. 4. Conflict of interest statement The author(s) hereby declare and confirm that no financial, grant, or technical support was received in the preparation this work. References
Fig. 5. A–B. Immediate post-operative radiographs following open biopsy and partial patellectomy.
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