Clinical Presentation of Fibrodysplasia Ossificans Progressiva

Abstract

The occurrence of second malignant neoplasms (SMN) in children who survive their primary malignancy is a major cause for concern. Two children with diagnoses of intermediate-risk acute lymphoblastic leukemia (ALL) at 22 months and 2 years of age were treated with multiagent chemotherapy and prophylactic cranial irradiation. They experienced painless parotid swelling 6 and 7 years after successful treatment of the ALL. The patients underwent total parotidectomy, and a diagnosis of mucoepidermoid carcinoma was made. Both patients experienced transient facial nerve paresis. The incidence of SMN in children successfully treated for primary malignancies is 3% to 12%. Salivary gland tumors are being increasingly described in this setting. Long-term follow-up for survivors of childhood ALL is recommended with prompt assessment and resection of parotid swellings, particularly in children who have received cranial irradiation.

Fibrodysplasia ossificans progressiva: a new spotlight on an old disease—a case report

“…The diagnosis of FOP is therefore clinical (Smith 1998). Understandably, malignancy is the most common misdiagnosiswith up to 1 in 3 cases being mistaken as cancer (Smith 1998, Magryta et al 1999, Kitterman et al 2005. Unnecessary biopsies are therefore often performed.…”

Mucoepidermoid Carcinoma in a Minor Salivary Gland in a Child

“…There is a potential risk of the development of a mucoepidermoid carcinoma in parotid and minor salivary glands of children who have received chemotherapy and cranial irradiation [6, 20]. Moreover, survivors of the childhood cancer must be followed closely throughout their lifetime for the risk of developing a secondary malignancy following the treatment of childhood cancer [21].…”

The stone man disease: fibrodysplasia ossificans progressiva: imaging revisited

“…FOP, first described in 1648 by Guy Patin, is a rare disorder with no ethnic, racial, geographical or sex predisposition; the incidence being one case per two million live births 3 4. Genetic transmission is autosomal dominant with variable expression but the inheritance because of spontaneous mutations is most common 3…”

“…The differential diagnoses in early stage of disease with focal progressive mineralised masses include dermatomyositis, tumoral calcinosis, some bone malignancies (juxtacortical osteosarcoma), soft tissue sarcomas and fibromatoses 3. In advanced disease with extensive heterotopic ossification diagnosis is usually a clinico-radiological one, with emphasis on detection of preosseous lesions.…”