Turkish Journal of Physical Medicine and Rehabilitation 2012 , Vol 58 , Num 1
Familial Peripheric Polyneuropathy Plus Camptodactyly; Three Sisters
Metin Işık 1 ,İsmail Doğan 1 ,Levent Kılınç 1 ,Meral Çalgüneri 1
1 Hacettepe Üniversitesi Tıp Fakültesi, Erişkin Hastanesi, Romatoloji, Ankara, Türkiye DOI : 10.4274/tftr.55477

Camptodactyly, the flexion contracture of the proximal interphalangeal joint usually involves the small finger and may be a component of some autosomal dominant diseases, such as Marfan's syndrome, cranio-carpo-tarsal dystrophy and oculo-dento-digital dysplasia. Camptodactyly may also coexist with anomalies, such as high arched palate, anomalies of scapula, scoliosis, ptosis, hemi-hypertrophy and taurinuria. Hereditary autonomic and sensory neuropathies (HSAN) are a clinically and genetically heterogeneous group of inherited peripheral neuropathies, which primarily affect the peripheral sensory and autonomic nerves. Patients usually have prominent distal sensory loss with complaints of insensitivity to pain. Prominent distal sensory loss may cause chronic ulcerations in the feet and hands, and less frequently, severe complications as extensive soft tissue infections, osteomyelitis and amputations. Herein, we report three sisters with hereditary peripheral polyneuropathy associated with concomitant camptodactyly. 

Keywords : Hereditary neuropathy, camptodactyly