<div>Case report of Osteopoikilosis in patient with psoriatic arthritis.</div><div>Dr Ines Cherif, corresponding author, Email:<i>Ines.cherif@aol.fr</i>, Tel: 00216
53 60 25 63</div><div>Dr Kaouther Maatallah, kaoutherm1986@yahoo.fr</div><div>Dr Hanene Ferjani, lassouedferjanihanene@gmail.com</div><div>Dr Wafa Triki, triki.wafa123@gmail.com</div><div>Dr Dorra Ben Nessib, bennessibdorra@gmail.com</div><div>Dr Dhia Kaffel, eldhia@gmail.com</div><div>Dr Wafa Hamdi, wafahamdi6@yahoo.fr</div><div>rh<i>eumatology department, Med Kassab institute of orthopedics,
Tunisia</i></div><div>Faculty of medicine of Tunis, University Tunis el Manar, Tunisia</div><div>Abstract:</div><div>Osteopoikilosis (OPK) is one of the rare genetic musculoskeletal, non
inflammatory disorders that we should increase awareness towards.</div><div>We report a case of a patient diagnosed with psoriatic arthritis with
incidental imaging findings of lesions suggestive of osteopoikilosis.</div><div>Keywords: Osteopoikilosis, psoriatic arthritis, psoriasis, primary
infertility.</div><div>Written informed consent was obtained from the patient to publish this
report in accordance with the journal’s patient consent policy”</div><div>The data that support the findings of this study are available from the
corresponding author upon reasonable request.</div><div>Conflict of interest: None.</div><div>Acknowledgments, funding sources: None</div><div>Case report:</div><div>A 38 years old female, initially presented to our rheumatology
department for inflammatory right hip pain evolving for two years. She
had a family and personal history of cutaneous psoriasis and was
followed for primary infertility with premature menopause at the age of
37. As for the surgical history, the patient underwent resection of a
breast nodule that turned out to be benign. She didn’t have any other
extra-articular involvements. Clinical examination showed a permanent
irreducible flexion of the right hip of 10° with very painful
mobilization hindering the examination and a right quadriceps
amyotrophy. The left hip was painless to mobilization with limited
internal and external rotation as well as a limited abduction.
Provocative sacroiliac joint maneuvers were difficult to perform because
of the pain. The lumbar spine was painless and not limited. The left
shoulder was painful when mobilized but not limited. Subacromial
impingement tests and Jobe’s test were positive on the left. The
examination of the right shoulder was normal.</div><div>The rest of the osteoarticular and somatic examinations were without
abnormalities.</div><div>Blood test results showed an inflammatory syndrome with a high
Erythrocyte sedimentation rate (ESR) equal to 89 mm/hr, and high C
reactive protein (CRP) equal to 13 mg/L, cell blood count (CBC),
hepatic, renal assessments were normal. The phosphocalcic assessment did
not show any abnormalities aside from a hypovitaminosis D of 5,23 ng/ml
(&lt;30 ng/ml).</div><div>Biochemical markers of bone remodeling revealed an elevated alkaline
phosphatase equal to 137 IU/L (&gt;104 IU/L). Rheumatoid
factor was negative.</div><div>X-rays of the pelvis, hands, left shoulder and feet were performed as
well as an osteoarticular ultrasound imaging. The ultrasound imaging of
the hips showed a destructive arthropathy of the right hip, small
effusion without signal on color Doppler, and fatty degeneration of the
gluteal muscles. X-ray showed, however, a right coxitis, a bilateral
sacroiliitis, grade 3 on the right and grade 2 on the left, according to
the modified NY criteria (13). Besides, X-rays of the pelvis, left
shoulder and feet revealed, incidentally, scattered periarticular
sclerotic foci of variable sizes (figure1,2,3) suggestive of
osteopoikilosis.</div><div>X-rays of the hands were normal.</div><div>The diagnosis of Psoriatic arthritis was retained according to CASPAR
criteria (14), and the patient was put on sulfasalazine 2g per day
gradually, due to her willingness to conceive and underwent physical
therapy. The patient also had an intra-articular hip injection of
Hexatrione.</div><div>Discussion:</div><div>Osteopoikilosis or ‘spotted bone disease’ is a benign condition,
originally described in 1905 by Stieda as ”a circumscribed condensing of
the bone in the region of the substantia spongiosa,” (2)</div><div>It is characterized by sclerotic bone lesions most commonly involving
the hands, feet, pelvis, and the ends of long bones. They typically
spare the skull, ribs, and vertebrae (3)</div><div>In our case, X-rays of the pelvis, shoulders, and feet showed lesions
suggestive of osteopoikilosis, whereas radiographs of the spine and
hands showed no such images.</div><div>The lesions, when occurring in the pelvis, can sometimes hide or mimic a
sacroiliitis presenting a series of radiological diagnostic challenges
(4).</div><div>Lesions are generally found incidentally on imaging studies done for
other purposes manifesting in symmetric, oval, and periarticular
sclerotic bone areas. This was the case for our patient.</div><div>Research has shown that the main defect lies in germline mutations in
LEMD3, which encodes the inner nuclear membrane protein MAN1, which in
turn appears to play a role in the signaling of bone morphogenetic
proteins. (5). A
familial tendency exists, and suggests an autosomal dominant inheritance
(2), although our patient did not report similar cases in her family,
and family members were not examined in the present study.</div><div>In most cases, osteopoikilosis is asymptomatic, although joint pain and
joint effusion may be observed in 20% of patients (3). The complaints
of our patient can, however, be explained by her inflammatory rheumatic
disease causing the right coxitis.</div><div>Several differential diagnoses may arise, the most urgent ones being
osteoblastic metastases and primary bone tumors. Lesions may also
sometimes suggest mastocytosis, tuberous sclerosis, synovial
chondromatosis, and melorheostosis. The latter is a mesenchymal
dysplasia involving a “flowing” pattern of hyperostoses of the cortex
of tubular bones and has also been linked to LEMD3 mutations (1). It is,
though, typically unilateral and monostotic.</div><div>Pertaining to malignant lesions, asymmetrical involvement with lesions
of varying sizes, preferably located in the axial skeleton, has been
more frequently reported. It is usually associated with osseous
destruction and positive scintigraphy findings. (6) A positive bone
scan, however, does not rule out the diagnosis of osteopoikilosis (3).</div><div>Our patient did not benefit from scintigraphy because the radiological
images were quite suggestive of osteopoikilosis: bilateral, symmetrical,
well limited, and periarticular. Besides, our patient had a good general
state, no bone pain, and did not report any weight loss. Her CBC and the
serum protein electrophoresis (SPEP) test showed no abnormalities.</div><div>Osteopoikilosis has been reported to be associated with various skeletal
and dermatologic disorders such as Klippel-Feil syndrome
(7), the
Buschke–Ollendorff syndrome (BOS)
(3), synovial
chondromatosis and chondrosarcoma
(8) raising a
legitimate question about the necessity for a follow up (3)</div><div>OPK has also been described in association with renal and heart
malformations, and endocrine disorders (9).</div><div>The number of reported cases in association with rheumatic diseases is
expanding (8) and
includes association with rheumatoid arthritis, juvenile arthritis,
spondyloarthritis, and psoriatic
arthritis(10,11,
12).
Practitioners are therefore wondering whether OPK might be a risk factor
or an association with other diseases.</div><div>In the present case, the patient has a medical history of both primary
infertility because of Primary ovarian insufficiency (POI) and psoriatic
arthritis. To our knowledge, no case of osteopoikilosis with primary
infertility has been reported yet.</div><div>Conclusion:</div><div>OPK is a benign genetic musculoskeletal disorder. The interest in
acknowledging this disease lies in the importance of ruling out the
differential diagnoses, especially neoplastic causes. This condition
seems to be more and more associated with inflammatory rheumatic
diseases, raising a legitimate question on whether it might be a
potential association.</div><div>Some authors suggest a follow-up, due to a case report of OPK associated
with chondrosarcoma. In most cases, authors do not recommend any routine
follow-up visits or studies. No specific therapy is required other than
the treatment of the coexisting pathologies.</div><div>Patient consent: As stated before, the patient gave her informed
consent prior to her inclusion in the report.</div><div>Figure 1: X ray of the pelvis demonstrating a Grade 3 right
sacroiliitis, a grade 2 left sacroiliitis according to the modified NY
criteria, a right destructive coxitis and scattered, symmetric,
bilateral and periarticular sclerotic foci of variable sizes on the
pubis, ischium and ilium as well as on the neck of the femur.</div><div>Figure 2: Xray of the left foot with well-limited osteocondensing
lesions affecting the tarsals, metatarsal bones and the hallux’ two
phalanges.</div><div>Figure 3: Xray of the left shoulder with periarticular sclerotic foci
affecting the humeral head and the glenoid with no rupture of the
cortical bone.</div><div>Author’s contributions :</div><div>Dr Ines Cherif, corresponding author, Writing- Original draft
preparation.</div><div>Dr Kaouther Maatallah, Conceptualization, Methodology, Software</div><div>Dr Hanene Ferjani, Visualization, Investigation.</div><div>Dr Amani a, Visualization, Investigation.</div><div>Dr Wafa Triki, Visualization, Investigation.</div><div>Dr Dorra Ben Nessib, Visualization, Investigation.</div><div>Dr Dhia Kaffel, Supervision.</div><div>Dr Wafa Hamdi, Supervision.</div><div>References:</div><div>1-K
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