Osteosclerosis With Ichthyosis And Premature Ovarian Failure

Clinical Features

Gunal et al. (2005) described an apparently new form of sclerosing dysplasia of bone in 3 adult sisters in a family from Northern Syria. The parents, 2 sisters, 5 brothers, and 22 nephews and nieces showed no signs of the disorder. The ages of the patients at the time of report were 35, 41, and 48 years. Signs of the disease appeared approximately 15 years after puberty. The main complaints were swelling of the limbs and occasional mild pains in the legs. The skin showed scaly changes like those of ichthyosis vulgaris (146700). Two of the sisters had premature ovarian failure (see 311360). Ultrasound showed hypoplasia of the ovaries bilaterally in all 3 patients. Height and weight were normal. Marked endosteal and periosteal new bone formation involved the diaphyseal and metaphyseal regions of all of the long bones, with sparing of the epiphyses. Similar changes were found in the metacarpals. All the skull bones showed marked sclerosis. Chest, pelvis, and spine were radiologically normal. Gunal et al. (2005) found 1 other report of sclerosing bone dysplasia with ichthyosis, but in that familial disorder bowed legs and a tendency to fracture were present; see 166740. Gunal et al. (2005) referred to the disorder in the Syrian family as mixed sclerosing dysplasia predominantly affecting intramembranous ossification.