TITLE- UNILATERAL OVERLAP SYNDROME OF MELORHEOTOSIS,

OSTEOPATHIA STRIATA AND OSTEOPOIKILOSIS WITH NAEVUS

ID NO 1155

AIM TO PRESENT A RARE CASE OF MIXED

SCLEROSING DYSPLASIA OF BONE

MATERIAL AND METHOD

12 YR MALE PRESENTED WITH RIGHT SHOULDER PAIN

AFTER SHOULDER RADIOGRAPH ,SKELETAL SURVEY WAS DONE

SHOULDER CT WAS ALSO TAKEN

Severe cortical hyperostosis of right hand bones

Hyperostosis of right hemithorax involving clavicle,scapula,ribs and humerus

Dense sclerotic ribs in dermatomal distribution.

RIGHT KNEE RADIOGRAPH

Linear dense bands in metaphysis. Periarticular ovoid radiodense foci

Unilateral hyperostosis of right foot bone.

Right hemipelvis shows radiating hyperostosis para acetabular region.

Unilateral naevus

CT axial sections show severe Endosteal sclerosis with obliteration of medullary cavity of right hemithorax including thoracic vertebra.

Hyperostosis,epiphyseal ovoid lesions,bony mass like projection from scapula.

Overlap syndromeAlthough melorheostosis, osteopathia striata,

osteopoikilosis each possess characteristic radiologic abnormalities some patients demonstrate findings of more than one of these disorders .

The radiographic features of this overlap syndrome are combination of each of this dysplasia.

These are spectrum of disorders due to mutation in LEMD 3 gene

Melorheostosis :Also known as Leri disease is an

uncommon mesenchymal dysplasia. 50% of cases present before 20 years of age. It is usually asymptomatic, most common presentation is joint contracture, pain.It is either monostotic, polyostotic or monomelic. Most commonly affects the long bones.

MELORHEOSTOSIS.Characteristic imaging features include wavy

hyperostosis that resembles melted wax dipping down the side of a candle. Endosteal hyperostosis is an associated feature with obliteration of medullary cavity.

Associations – thickening and fibrosis of overlying skin, vascular malformation and tumors, muscle atrophy.

Osteopathia striata: It is a rare benign dysplasia of bone involving epiphysis and metaphysis of tubular bones.It is typically bilateral.It shows vertical striations in the metaphysis and epiphysis of long bones(celery stalk metaphysis)

Osteopoikilosis :characterised by multiple bone islands symmetrically distributed and clustered near the articular ends of joints and align themselves parallel to the trabeculae.

• Since our patient had unilateral sclerosing dysplasia with following radiographic features

• 1. Severe cortical and endosteal sclerosis---- MELORHEOSTOSIS

• 2. Metaphyseal dense linear strands –OSTEOPATHIA STRIATA

• 3.Periarticular ovoid hyperdense foci--- OSTEOPOIKLOSIS

• MIXED SCLEROSING DYSTROPHY—OVERLAP SYNDROME WAS DIAGNOSED.

REFERENCEResnick-diagnosis of bone and joint disorders

3rd edition:volume6,section XVIII chapter 93: 4416-4420.

Greenspan A et al.,orthopaedic imaging-A practical approach.5thedition,page958,2011.

Ghai s et al-Mixed sclerosing bone dysplasia-a case report with literature review: 2003may-jun;27(3):203-5.

FP Cantatore et al; Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata, Department of Rheumatology ,University of Bari,Italy