Thiemann Disease

Description

Thiemann disease is a rare disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence (Kotevoglu-Senerdem et al., 2003).

Clinical Features

Familial osteoarthropathy of fingers was first described by Thiemann (1909). Allison and Blumberg (1958) described 2 unrelated families in which many members (23 in 1 family and 20 in the other) had painless deformity at the proximal interphalangeal joints beginning in childhood or adolescence. The proposita in 1 family showed nodular enlargement of the proximal and distal interphalangeal joints of all digits. Those of the terminal joints resembled Heberden nodes. The terminal phalanges of the fingers were shortened. There was slight restriction of flexion at both wrists, but this was not accompanied by a deformity. The feet showed hallux valgus. Radiographs of the feet showed changes like those in the fingers.

Trippel (1950) and Fournier et al. (1969) each described 1 family with Thiemann disease.

Boehme (1963) reported 2 brothers with Thiemann epiphyseal disease involving the proximal interphalangeal joints of the fingers. The metaphyses and epiphyses were broad and short. Onset was at 13 and 17 years. The parents were not related and they and other family members were not affected.

Gewanter and Baum (1985) reported 2 unrelated children with no other known affected individuals in their families. Both children had a history of swollen, tender proximal interphalangeal joints with radiographic evidence of irregularities of the epiphyses leading to premature fusion and subsequent shortening of the middle phalanges.

Schantz and Rasmussen (1986) reexamined 7 patients (4 males, 3 females) with Thiemann disease. Two patients had had pain in the affected digits for several years. In 4 patients, radiographs after closure of the growth plates showed normal phalangeal dimensions without arthrosis. The authors concluded that different degrees of severity of epiphyseal disturbance occur in this disorder.

Population Genetics

Giedion (1976) classified Thiemann disease with acrodysplasias and stated: 'We have never seen a typical case of this condition, which by now may be extinct.'

Although Thiemann disease is considered to be a rare disorder, Gewanter and Baum (1985) and Kotevoglu-Senerdem et al. (2003) suggested that greater recognition of its features may lead to its more frequent diagnosis.

Diagnosis

Differential Diagnosis

Allison and Blumberg (1958) stated that this disorder can be distinguished from osteoarthritis, rheumatoid arthritis, and gout by its early age of onset, equal sex incidence, benign course, absence of symptoms, characteristic joint distribution, and lack of abnormal laboratory findings.

Kotevoglu-Senerdem et al. (2003) reported 2 Turkish brothers, aged 14 and 17 years, with Thiemann disease. The 17-year-old proband had been misdiagnosed 3 years earlier as having rheumatoid arthritis. The authors stated that the characteristic symmetrical, firm, relatively painless deformity and x-ray findings of the epiphyseal irregularities should suggest the diagnosis of Thiemann disease.

Inheritance

Allison and Blumberg (1958) stated that the pattern of transmission in the families they reported resembled that of previously reported families, i.e., autosomal dominant inheritance. However, in 1 of their families, 2 children of first-cousin affected parents were much more severely affected than their sibs. The authors suggested that the 2 children may have been homozygotes.

Rubinstein (1975) suggested autosomal dominant transmission of Thiemann disease.