Melorheostosis at left lower limb of a 22 years old female:

A Rare Case
(Theme: Pediatric)

Thomson Manurung*, Ruksal Saleh **, Andry Usman **

* Resident of Orthopedic and Traumatology Departement, Hasanuddin University, Makassar
** Teaching Staff of Orthopedic and Traumatology Departement, Hasanuddin University,
Makassar

Introduction
Melorheostosis, also known as LERI’S disease or flowing periosteal hyperostosis is a
rare benign disorder affecting the skeleton and adjacent soft tissue, which was first described
by Leri and Joany in 1922 as hyperostose en coutee. Melorheostosis is derived from the Greek:
Melos; Limb; rhein; flow; osteon; bone; referring to the radiographic appearance that resembles wax
flowing down one side of the candle. The several hypothesis are given but the exact aetiology remain
unclear. One possible etiology of melorheostosis is a loss of function mutation in the LEMD3 gene.
The age of the first clinical manifestation varies from the 3 years to 61 years, our patient presented
symptomatic at age of 13 years.

History
A 22 years old female presented with pain at the left lower limb pain, mild swelling, and
limping. Her limb pain presented since 9 years ago, dull and aching pain, not related to her
activity, has a positive response to oral analgesia. The swelling and restriction of joint
movement gradually progress. She also felt limping when walking that gradually progressed
until she was 20 years old. There was no relevant family history of trauma, and no history of
fever. Patient still able to do daily activity living.
Interesting Point for Discussion
Melorheostosis is a very rare benign disorder affecting the skeleton and adjacent soft
tissue. The illness affects soft tissue and bone resulting in pain on affected bone, deformities,
limitation of movement, limb shortening or contractures. One bone (monostotic) or many
bones (polystotic) may be affected. Melorheostosis mainly affects, the long bones of the
upper and lower limbs, and also the short bones of the hand and foot, but rarely the axial
skeleton. In this case, the disease affected the pelvis, long bone of femur and tibia, and also
her left foot. Patient complain pain on her left lower limb since 9 years ago, have good
response wih analgetic. And the patient still able to do daily activity living until now.

Solution and Rationale

The diagnosis can be attained only by clinical and radiographic finding (dripping
candle wax sign). All routine laboratory findings usually normal and the histological findings
are nonspecific. Treatment is mainly symptomatic, in our case patient complain pain on her
lower limb that we have treated with analgesia and lifestyle modification.

Final Outcome
There is no definite treatment available for this disease. Treatment is symptomatic in most
cases, surgical treatment is reserved for contractures and deformities. Our patient had been
treated with oral analgetic and proper education, which is given a good response. Patient still
routinely control to outpatient department.
References
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31
2. Rakesh Kumar, S.S Sankhala, Isha Bijarnia. Journal of Orthopaedic Case Reports:
Melorheostosis 2014 April-June;4(2): 25-27
3. Chi Zhang, Wenda Dai, Yi Yang, Qi Tang, Zhenjun Yao. Intractable & Rare Diseases
Research. 2013; 2(2):51-54: