Idiopathic hyperphosphatasia with dermal pigmentation. A twenty-year follow-up

• Published in: Journal of bone and joint surgery. British volume Vol. 68; no. 2; pp. 305 - 310
• Main Authors: Döhler, J R, Souter, W A, Beggs, I, Smith, G D
• Format: Journal Article
• Language: English
• Published: England 01.03.1986
• Subjects: Adult; Bone and Bones - pathology; Bone Diseases, Developmental - complications; Bone Diseases, Developmental - diagnostic imaging; Bone Diseases, Developmental - metabolism; Fractures, Spontaneous - diagnostic imaging; Growth Plate - surgery; Humans; Knee; Male; Phosphoric Monoester Hydrolases - blood; Pigmentation Disorders - complications; Radiography; Surgical Staplers; Syndrome
• ISSN: 0301-620X; 2044-5377
• DOI: 10.1302/0301-620x.68b2.3007527

Hyperphosphatasia, or hereditary bone dysplasia with hyperphosphatasaemia, is a rare genetic disorder which is characterised by failure to transform woven into lamellar bone. Clinical, radiological and histological features establish the diagnosis, fractures, deformities, diffuse sclerosis on radiographs and high serum alkaline phosphatase being characteristic. We report the case of a 27-year-old man with follow-up at the same hospital for 20 years. Attempts at treatment with calcitonin and disocium etidronate (EHDP) failed, but stapling of the growth plates at the knee was successfully performed. Transverse "brittle" fractures of the humerus, lower leg and ribs healed normally, but internal fixation and late bone grafting were required for a subtrochanteric stress fracture of the femur at the age of 24 years. At present the patient has no clinical problems and leads a normal life.