Open Access

Case report Melorheostosis: a rare entity: a case report Abdelhakim Kherfani1, Hachem Mahjoub1,& 1

A Orthopedics adults surgery department, MT Kassab Institute, La Manouba, Tunisia

&

Corresponding author: Hachem Mahjoub, Orthopedics adults surgery department, MT Kassab Institute, La Manouba, Tunisia

Key words: Melorheostosis, sclerotic bone dysplasias, CT, MRI Received: 23/05/2014 - Accepted: 09/06/2014 - Published: 26/07/2014 Abstract Melorheostosis is a rare entity belonging to the group of sclerotic bone dysplasias. Described for the first time in 1922 by Leri, it remains imperfectly known as clinical presentations are highly variable, and the etiological diagnosis is not fully elucidated. We report a case of polyostoticmelorheostosis for which radiological investigations were complete, in order to study this disease.

Pan African Medical Journal. 2014; 18:251 doi:10.11604/pamj.2014.18.251.4661 This article is available online at: http://www.panafrican-med-journal.com/content/article/18/251/full/ © Hachem Mahjoub et al. The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Pan African Medical Journal – ISSN: 1937- 8688 (www.panafrican-med-journal.com) Published in partnership with the African Field Epidemiology Network (AFENET). (www.afenet.net) Page number not for citation purposes

1

Introduction

tissues (Figure 4). Given these findings, biopsy was not performed, and the patient was discharged to be followed in our consultation by

Melorheostosis is a rare benign non hereditary condition. It is known as a mesoderm sclerotic bone dysplasia, characterized by cortical hyperostosis with or without retraction of soft tissue. It was described for the first time in 1922 by Leri and Joanny as a dripping candle wax hyperostosis [1]. Since then, 300 cases have been

standard radiographs every three months, and an annual bone scan. At last follow up, two years of the first consultation, two episodes of left cruralgia have been reported, and yielded by three days anti inflammatory treatments. Scintigraphy (Figure 5) and plain radiographies remained similar to initial assessments.

reported in the literature. Its incidence is estimated 0.9 per million population [2]. It affects both men and women at any age. The locations are highly variable, and mono ostotic forms were more

Discussion

often described. Polyostotic forms localized to the lower limbs are rare. The disease can remain silent and be discovered incidentally.

Melorheostosis is still an imperfectly known pathology and many

If not, symptoms are made of distortion, variable pain or limitation

questions remain unanswered. The role of a genetic predisposition

of joint mobility. It is a disease whose etiology is imperfectly

has been suggested, but evidence does not yet exist considering

understood, the genetic factors and metabolic predisposition or

that familial cases have not yet been reported. Its association with

malformation of the vessels are proposed, but the exact cause is to

vascular sector malformations and some observations reported

be determined [3-5]. The diagnosis was facilitated by the recent

changes in skin pigmentation suggests that a mutation may be

imaging techniques, CT scan or better, the MRI that provides

responsible [3-5].

diagnostic certainty [6,7]. Scintigraphy can detect subclinical lesions and monitor its progress [6,7]. Therapeutic envisaged vary widely,

In this rare disease, the clinical presentations are highly variable

depending on the discomfort and the localization.

and locations are diverse. Both upper or lower limbs can be affected in addition to the axial skeleton. The lower limbs are affected more often than the upper limbs. Conventional imaging is very

Patient and observation

characteristic when it shows the flowing candle wax, but this aspect can be seen in other conditions such as osteomyelitis or bone

We report the case of a 39 years-old female, with no past medical history, whose complaint was a spontaneous one week evolving isolated left cruralgia. The clinical examination was unremarkable apart from an anterior thigh pain at the mobilization of the left hip. No quadriceps hypotrophy, no fever and no limitations in the joints motion were found. Plain radiographs of the pelvis and proximal femur showed hypercondensation of the medial cortex of the left femur below the calcar, the classic flowing candle wax, combined with condensation of the iliac side of the sacroiliac joints bilaterally (Figure 1). Lab tests were normal. The diagnosis of melorheostosis was raised and we completed the explorations by a whole body bone scan that showed increased uptake in the proximal left femur and both sacroiliacs. CT of the pelvis and left femur was performed and showed an hypercondensation in the medial cortex of the left femur, and a bilateral condensation of the iliac side of the sacroiliac joints (Figure 2, Figure 3). The patient was put under analgesics and nonsteroidal anti -inflammatory drugs, with improvement of symptoms from J3 of hospitalization. An MRI was performed and showed the same bone condensation without extensions to the soft

tumor. In some presentations it may be lawful to biopsy and perform bacteriological examinations [7]. In the most common cases, imaging may be sufficient to make the diagnosis. Crosssectional imaging is very essential: CT shows bone lesions with its classical aspects and quantifies it in the spatial planes [6,7] whereas MRI can describe the extension to the soft tissues and rule out possible differential diagnoses [6,7]. Bone scintigraphy has an important contribution in melorheostosis since it can detect subclinical lesions and monitor progress. It also allows to differentiate the developmental stages according to the intensity of the bone fixation [6,7]. We recommend monitoring by full body scans to detect any changes, especially since the evolution is unpredictable. The therapeutic is not well codified. It is symptomatic in most cases, in order to control bone pain. Protocols based on Pamidronate [8] have been proposed and appear to improve symptoms but do not slow the progress. Surgery is indicated in cases where there is major axial deformation or consequent limitations of joint mobility.

Page number not for citation purposes

2

It is not easy and a knowledge of soft tissues involvement is a prerequisite.

Conclusion

References 1.

Leri A, Joanny J. Une affection non decrite des os: hyperostose «en coulee» sur

toute

la

longueur d’un

membre ou

“melorheostose”. Bull Mem Soc Med Hosp Paris. 1922; Melorheostosis is a rare, benign with chronic course, often with

46:1141–5. PubMed | Google Scholar

outbreaks interspersed with remissions. We emphasize the need to ensure the diagnosis by plane radiographies, CT scan or MRI. If any

2.

doubt, biopsy may be necessary. Scintigraphy is the best exploration

Clifford PD, Jose J. Melorheostosis. Am J Orthop (Belle Mead NJ). 2009; 38(7):360-1. PubMed | Google Scholar

for monitoring the disease. Treatment is symptomatic essentially, based on nonsteroidal anti-inflammatory. Surgery can have its place

3.

in large deformations and joint damage, but with great care.

Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, et al. Loss-of function mutations in LEMD3 result in

osteopoikilosis.Buschke-Ollendorff

melorheostosis.

Genet.

2004;

and

36(11):1213–

8. PubMed |Google Scholar

Competing interests The authors declare no competing interest.

Nat

syndrome

4.

Kessler HB, Recht MP, Dalinka MK. Vascular anomalies in association with osteodystrophies - a spectrum. SkeletalRadiol. 1983; 10(2):95-101. PubMed | Google Scholar

Authors’ contributions

5.

Kalbermatten NT, Vock P, Rüfenacht D, Anderson SE. Progressive melorheostosis in the peripheral and axial skeleton

All the authors have contributed to this manuscript in ways that

with associated vascular malformations: imaging findings over

comply to ICMJE authorship criteria. All the authors have read and

three

approved the final version of themanuscript.

52. PubMed |Google Scholar 6.

Figures

decades.

Skeletal

Radiol.

2001;

30(1):48-

Campbell CJ, Papademetriou T, Bonfiglio M. Melorheostosis: A report of the clinical, roentgenographic, and pathological findings in fourteen cases. J Bone Joint Surg Am. 1968; 50(7):1281–304. PubMed | Google Scholar

Figure 1: Flowing candle wax condensation in the proximal femur on a plane radiography, specific of the Leri’s disease Figure 2: CT scan showing condensation of the iliac sides of sacro

7.

imaging appearances of melorheostosis. Clin Radiol. 2010;

iliac joints

65(8):593-600. PubMed | Google Scholar

Figure 3: The caracteristic candle wax condensation of the proximal femur below the calcar in the CT scan Figure 4: MRI on T2 sequence showing the condensation of the iliac side of the sacro iliac joints with no involvment of the joint nor the soft tissues

Suresh S, Muthukumar T, Saifuddin A. Classical and unusual

8.

Saadallaoui Ben Hamida K, Ksontini I, Rahali H, Mourali S, et al. Atypicalform of melorheostosisimproved by pamidronate. Tunis Med. 2009; 87(3):204–6. PubMed | Google Scholar

Figure 5: scintigraphy showing hyper fixation of the proximal femur and the sacro iliac joints

Page number not for citation purposes

3

Figure 1: Flowing candle wax condensation in the proximal femur on a plane radiography, specific of the Leri’s disease

Figure 2: CT scan showing condensation of the iliac sides of sacro iliac joints

Figure 3: The caracteristic candle wax condensation of the proximal femur below the calcar in the CT scan

Page number not for citation purposes

4

Figure 4: MRI on T2 sequence showing the condensation of the iliac side of the sacro iliac joints with no involvment of the joint nor the soft tissues

Figure 5: scintigraphy showing hyper fixation of the proximal femur and the sacro iliac joints

Page number not for citation purposes

5

Melorheostosis: a rare entity: a case report.

Melorheostosis is a rare entity belonging to the group of sclerotic bone dysplasias. Described for the first time in 1922 by Leri, it remains imperfec...
425KB Sizes 2 Downloads 24 Views

Recommend Documents


Melorheostosis - Case Report of Rare Disease.
Melorheostosis(synonyms: candle bone disease, melting wax syndrome, Leri disease) is a rare chronic bone disorder, first described in 1922 by Leri and Joanny. Men and women are equally affected, and no hereditary features have been discovered. Onset

Superficial Acral Fibromyxoma: A Rare Entity - A Case Report.
Superficial acral fibromyxoma (SAF) is a rare lesion initially described by Fetsch as a tumour with histological and immunohistochemical features located at acral sites. It is a benign slow-growing soft tissue lesion occurring in males. Patients gene

A case report on esophageal tuberculosis - A rare entity.
This is a case report of a rare form of tuberculosis in a patient presenting with dysphagia. Patient was subjected to upper gastrointestinal endoscopy, which revealed an ulcerative growth in the distal esophagus. Histopathology revealed esophageal tu

Renal Primitive Neuroectodermal Tumour: Case Report of a Rare Entity.
The peripheral Primitive Neuroectodermal Tumour (PNET) is a member of the family of small round cell tumours. PNET is more aggressive in kidney when compared to the other sites. It usually presents in childhood or adolescence. It has an aggressive cl

Primary anorectal melanoma-a rare entity: case report.
Anorectal melanoma is a rare disorder. There have only been a few cases reported and there is no consensus of treatment. We report a case of 50-year-old Caucasian man presenting intermittent prolapse of an anorectal mass during 6 months with occasion

Reviewing the Entity: Retropharyngeal Fibrolipoma and a Rare Case Report.
Fibrolipoma, a subtype of lipoma is painless, well-circumscribed, slow-growing, submucosal benign adipocyte tumour. It is uncommon in the oral cavity and oropharyngeal region, with rare incidence in the retropharynx even rarest in pediatric age group

Melorheostosis of the Foot: A Case Report of A rare entity with a Review of Multimodality Imaging Emphasizing the Importance of Conventional Radiography in Diagnosis.
Melorheostosis is a benign bone dysplasia affecting predominantly the appendicular skeleton and adjoining soft tissues. The diagnosis can be established on plain radiographs alone and advanced imaging modalities can be avoided. We hereby report a rar

Case Report: A giant but silent adrenal pheochromocytoma - a rare entity.
Herein we report a rare entity of a giant adrenal pheochromocytoma in a fifty-year-old male presenting with a vague abdominal pain. A computerised tomogram of the abdomen revealed a well-defined  left supraadrenal giant lesion with no evidence of inv

Malignant Gastric Glomus Tumor: A Case Report and Literature Review of a Rare Entity.
A glomus tumor is a mesenchymal neoplasm that usually develops in the peripheral soft tissue, especially in the distal part of the extremities. The subungual zones of the fingers and toes are the most frequent sites of observation. The majority of gl

Mal de Debarquement Syndrome: A Rare Entity-A Case Report and Review of the Literature.
Mal de Debarquement Syndrome (MDS) is a rare, understudied, underdiagnosed, and self-limiting condition. Etiology and incidence are unknown. It is characterized by abnormal sensation of motion/balance reported after travel by air, land, and sea; bein