Total Ankylosis of the Upper Left Limb: A Case of Progressive Osseous Heteroplasia

Abstract

Progressive osseous heteroplasia is a rare inherited disease that begins with skin ossification and proceeds into the deeper connective tissues. The disease should be distinguished from other genetic disorders of heterotopic ossification including fibrodysplasia ossificans progressiva (FOP) and Albright hereditary osteodystrophy (AHO). We report a case of progressive osseous heteroplasia in a twenty four years old male with a complaint of ankylosis of the entire upper left limb and digital cutaneous lesions and sparing of the other limbs and the axial skeleton. Absence of great toe malformation, presence of cutaneous ossification, dermal bone spicules extruding in fingers, and involvement of just left upper limb were unique findings in contrast with FOP diagnosis in this case. There is no effective treatment or prevention for POH. Awareness of diagnostic features is necessary in early diagnosis of POH.

Keywords: Congenital abnormalities; Heterotopic ossification; Progressive osseous heteroplasia.

Figure 1

Photograph of the patient’s upper limb demonstrate shoulder, elbow and wrist ankylosis.

Figure 2

Dermal ossification extrude through the skin of the fingers.

Figure 3

Heterotopic ossification formed bony bridge around the shoulder.

Figure 4

Severe extraosseous ossification in the elbow, forearm and hand region.

Figure 5

Reticular pattern of ossification from skin to deeper tissues caused ankylosis of the fingers.

Figure 6

Absence of great toe malformation excludes Fibrodysplasia Ossificans Progressiva.