AFFECTATIONS OF UNKNOWN ETIOLOGY

SUSIE RAE FAJARDO

INFANTILE CORTICAL HYPEROSTOSIS (CAFFEYS DSE)

Self limiting Painful swelling and subperiostial new bone formation on shafts of long bones and mandibles Affects infants under 6 mos ETIOLOGY Unknown Believed to be an infection (viral infection) There have been some familial cases

CLINICAL PICTURE Boys commonly affected Earliest signs include: irritability and swelling of the face, over a clavicle, or in a limb in whole or part Swelling sudden in onset, located beneath subcutaneous fat in muscular planes First roentgenographic sign: subperiostial shadows over whole or part of bone Epiphyses not involved Normal bone structure restored from a few mos 2 yrs (8 m0s on average) Dse rarely persist in a chronic form

DIFFERENTIAL DIAGNOSIS Traumatic lesions incurred accidentally or inflicted intentionally (battered child syndrome) Scurvy Hypervitaminosis A Osteomyelitis Syphilis Neoplasm TREATMENT No specific treatment Antibiotics for possibility of infection Surgical treatment is contraindicated Corticosteroids used in severe cases

HESTIOCYTOSIS (RETICULOENDOTHELIOSIS)
Histiocytic proliferation of unknown causes 3 kinds

EOSINOPHILIC GRANULOMA Benign inflammatory lesion of bone Occurs in children and young adult; males commonly affected Involves long and flat bones, usually solitary Lesion often discovered accidentally by roentgenographic examination or after pathologic fx Local swelling, tenderness, redness, heat and pain with limitation of function Roentgenographic finding: circumscribed area of bone destruction (1-4 cm in diameter) with sharply punched-out appearance May cause collapse or thinning of vertebral body (vertebral plana) Appareance of soft hemorrhagic granulation tissue (early lesion) Large mononuclear histiocytes containing eosinophils in microscopic examination Pathologic tissue eventually replaced by bone

 DIFFERENTIAL DIAGNOSIS Osteoid osteoma Osteomyelitis Ewings sarcoma Osteogenic sarcoma Multiple myeloma Bone cysts Giant cell tumor TREATMENT AND PROGNOSIS Lesions undergo spontaneous healing from a few mos to a year Excision or cutterage and packing of bone grafts Roentgen theraphy when surgical tx is not feasible

HAND-SCHULLER-CHRISTIAN DISEASE
Rare disorder attended by multiple bone defects Bone lesions contain large number of histiocytes and filled with lipids (cholesterol) Lesions most common in the skull, but may also occur on skin, tendons or tendon sheath and viscera Clinical appearance during childhood Dwarfism and infantilism sometimes present, pt. maybe jaundiced TREATMENT AND PROGNOSIS Roentgen therapy Systemic chemotherapy in combination with prednisone

LETTERER-SIWE DISEASE
Rare disorder of infancy Spleen, liver and lymph nodes are enlarged by proliferation of reticulum and its derivatives There maybe anemia, leukopenia and thrombocytopenia Skin manifestations in early stage Roentgenographic findings consist of multiple rarefied areas Diagnosis by bone marrow, skin lesion or lymph node biopsy

ENCHONDROMATOSIS (OLLIERS DISEASE, DYSCHONDROPLASIA)

Disorderly and excessive proliferation of cartilage cells at the epiphyseal plats Maybe present at birth but not apparent on examination No genetic basis PATHOLOGY Irregularly shaped masses of cartilage are found in the metaphyseal region Remains in the area because of failure of resorption during normal process of enchondral ossification

 CLINICAL PICTURE Early childhood Unilateral affectation, opposite side mildly affected Common feature: shortening of leg, limp Angular deformities at leg and elbow Involvement of hand and feet causes enlargement, severe distortion, and loss of function o ROENTGENOGRAPHIC PICTURE Elongated radiolucent areas from epiphyseal line into the metaphysic seen in long bones Radiolucent areas of cartilage seen in short bones of hand and feet

TREATMENT AND PROGNOSIS No specific treatment Shortening of limb may be treated surgical or compensated by orthopaedic appliance Severe angulation at knee and elbow may require osteonomy

FIBROUS DYSPLASIA
Chronic affectation characterized by presence of skeletal lesions in w/c bone is replaced by abnormal proliferation of fibro-osseous tiss Unknown cause Non-inherited dysplasia of developmental origin Seen in polyostotic form more than one bone is affected Monostotic type maybe a mild form of the dse

POLYOSTOTIC FIBROUS DYSPLASIA

More common in girls Develops during later years of growth period Severe cases progresses into childhood Unilateral involvement is common Frequently involves long bones: femur, pelvis, ribs and skull Pt. complains of increasing deformity, limp and pain in affected area ALBRIGHTS SYNDROME- exclusive in girls, rare combination of polyostotic fibrous dysplasia, cafe au lait skin pigmentation and endocrine disorder

PATHOLOGY Lesions expand slowly in cancellous bone but do not perforate Tissue of early lesion is gray and soft, gritty consistency; yellow and firm when matured Serum alkaline phosphatise level elevated in blood chemistry findings

 ROENTGENOGRAPHIC PICTURE Radiolucent areas of ground-glass appearance, thin cortex, deformed contours and fractures Fractures at upper third of the femur does not heal Femoral deformation become severe; shepherds crook deformity

TREATMENT Orthopaedic treatment for fracture and deformities Pseudarthrosis may require osteonomy and grafting No specific treatment

MONOSTOTIC FIBROUS DYSPLASIA

Lesions involving a rib Found in many other bone: upper femur, tibia and mandible Maybe asymptomatic, may present as local swelling pain, tenderness or pathologic fracture Roentgenograms show localized area of rarefaction Osteofibrous dysplasia/ ossifying fibroma- variant, occurs at tibial diaphysis in children Causes anterior bowing of tibia, may recur; improve spontaneously after puberty

TREATMENT Biopsy indicated when dx is in doubt Removal of pathologic tissue by curettement followed by autogenous bone graft

MELORHEOSTOSIS
Rare dse characterized by flowing or linear, longitudinal hyperostosis of limb bones Roentgenograms- osteosclerotic streaks and ridges along one side of long bone Changes limited to a single limb Affected areas has increased bone density Progress rapidly in children, slowly in adults Joint not affected, but restricted mobility d/t masses of ectopic bone, bony changes and fibrotic contractures LLD common No hereditary influence found Pt. complains of aching pain and stiffness of affected jts Tx includes surgery to correct deformities

HYPERTROPHIC OSTEOARTHROPATHY
Pulmonary osteoarthropathy of Marie Clubbing of fingers, painful swelling, periosteal new bone deposition in extremities Results from chronic visceral disease usually in thorax Common causes: lung tumors, infection, bronchiectasis, congenital heart disorder, cystic fibrosis, chronic intestinal disease Disease mechanism not fully understood Pathologic process: thickening of both soft tissue and bone

 CLINICAL PICTURE Common in men First sign: generalized symmetric and painless enlargement of distal portion of finger Nails become cyanotic Hippocratic fingers Affected digits maybe painful and tender Wrist and ankles swollen Roentgenograms show proliferative bony changes

TREATMENT Primary visceral dse must be treated Salicylayes, indomethacin and cortecosteroids for symptomatic tx

OSTEITIS DEFORMANS (PAGETS DSE)

Sir James Paget- 1877 Chronic skeletal dse of middle and late life Progressive structural changes and deformities occurring in long bones, spine, pelvis and cranium Accelerated resorption and excessive abnormal regeneration ETIOLOGY Cause unknown Infection of slow virus, not proved

PATHOLOGY
Initial bone lesion considered to be resorptive (osteolytic), followed by bone proliferation (ostoesclerotic) Increased blood flow to bone in active stage Developmental thickening of bone shaft of long bone (tibia and femur), and generalized thickening of cranium Only affects single bone Spine, frequently involved, collapse of one or more vertebral body cause kyphosis elevated Serum alkaline phosphatase level, continues elevated as long as dse is active urinary level of hydroxyproline increased during active stage

 CLINICAL PICTURE affected bones remain asymptomatic throughout individuals life men more affected, occasionally occurs in families 40-60 y/o when symptoms begins Severe, intractable pain, may complain fatigue or aching in legs, headache, backache, stiffness, clumsiness or noted bowing of legs, stooped back or large head In advanced stages head appears massive, may droop forward, presence of long dorsal kyphosis May develop tinnitus and visual impairment

ROENTGENOGRAPHIC PICTURE Contour of affected bone altered by increase curvature Enlarged cortex Blurred fluffy appearance Cranium greatly thickened

DIAGNOSIS Deformities and roentgenographic findings High serum alkaline phosphatise level Differential dx: hyperparathyroidism, metastatic carcinoma, syphilis, osteomalacia Biopsy to rule out metastatic tumor

TREATMENT AND PROGNOSIS No treatment other than periodic examination Combination of Calcitonin and diphosphonates effective for long-term remissions Mithramycin for very active dse Control hypercalcemia with high fluid intake and calcitonin Bracing for developing spine deformities Surgical decompression for spinal stenosis or neural compression Cardiovascular complication common cause of death in severe cases Pathologic fracture commonest complication

SENILE OSTEOPOROSIS
Osteoporosis that occurs in older pts Postmenopausal osteoporosis in older women 4x more common in women as in men until after 80 years of age ETIOLOGY Develops when bone lost by normal catabolism is not replaced Negative calcium balance from inadequate dietary intake or defective intestinal absorption of calcium Greater degree of bone resorption than bone formation

 CLINICAL PICTURE Sudden pain in the lower back accompanied by snap or crack Roentgenogram show compression of vertebral body with increased radiolucency of spine, abnormal thinning of cortex of long bones Vertebral collapse at lumbodorsal junction Deformation of multiple vertebrae causes kyphosis, loss of height and stooped shoulder

o DIAGNOSIS Clinical and roentgenographic features present no diagnostic problem Normal serum levels o TREATMENT No available drug tx Increased dietary calcium and supplementary vit D Fractures treated as indicated Back support to relieve pain and prevent compression fx Exercise to improve posture

POSTTRAUMATIC PAINFUL OSTEOPOROSIS (SUDECKS ATROPHY, REFLEX SYMPATHETIC DYSTROPHY)

Injury of extremity or peripheral nn followed by prolonged local pain, swelling, vasomotor instability, trophic changes in soft tiss, atrophy of bone Involves hand or foot Bone atrophy develops rapidly Roengenograms: bones have irregular and spotted appearance ETIOLOGY Disturbance in function of sympathetic nn supply caused by injury or compression Changes represent terminal phase of neurodystrophic process

 TREATMENT AND PROGNOSIS Pt.s recover spontaneously with simple tx Brief splinting followed by active exercise Intractable cases require sympatholytic drug, procaine block, ganglionectomy or periarterial sympathectomy Permanent deformity despite of tx