engleski

Fibrodysplasia ossificans progressiva : report of a family

Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans progressiva is a rare autosomal dominant disorder characterized by congenital malformation of the great toes and intermittent progressive ectopic ossification. The cause of the disease is still not fully understood. Some recent studies suggest that FOP maps to 4q27-31 region that contains at least one interval in the bone morphogenetic protein signaling pathway. Other studies have described mutations of the noggin (NOG) gene in the 17q21-22 region in FOP patients. We report on a female child with FOP and her partially affected father and twin sister. The girl, in whom soft tissue swellings were already noticed at birth, was referred to us at the age of 10.5 years. Clinical examination revealed short stature (height 124 cm ; -2.8 sd), bilateral short great toe with hallux valgus, short thumbs, numerous sites of subcutaneous tender indurations on the trunk and the extremities, and irregularly spaced dentition. X-ray demonstrated bilateral hallux valgus with shortening of the first metatarsal, short distal phalanges of the thumbs, multiple calcifications of the soft tissue paravertebral and around the joints and the trunk, and exostosis-like bony projection of distal fibula. Laboratory findings showed partial deficiency of growth hormone (peak GH value: 6.8 mIU/L) and primary hypothyroidism of unknown cause (T4: 42.0 nmol/L, T3 1.6 nmol/L, TSH 6.150 mIU/L, antithyroid antibodies: negative). Audiogram didn’ t reveal any kind of hearing loss. Clinical and radiological examination of her father and twin sister revealed only a bilateral short great toe with hallux valgus, indicating autosomal dominant mode of inheritance with full penetrance only for short great toes with hallux valgus and varying expression for heterotopic ossification. In conclusion, we have reported on FOP patient with partial growth hormone deficiency and hypothyroidism. Endocrine abnormalities have not been previously reported in FOP. It should be stressed that FOP patients and members of the family require a thorough clinical evaluation, which might detect additional abnormalities requiring medical treatment, with regard to the recommended precautions with invasive procedures.

bone; fybrodysplasia; ectopic calcification

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