Dermochondrocorneal Dystrophy

Description

Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., 1992).

Clinical Features

Francois (1949) observed 2 affected sibs with skeletal deformity of the hands and feet; xanthoma-like nodules on the pinnae, dorsal surface of the metacarpophalangeal and interphalangeal joints, posterior surface of the elbows, nose, and ears; and corneal dystrophy. The parents were related in the case reported by Jensen (1958).

Remky and Engelbrecht (1967) described the disorder in both of unlike-sex twins. They identified a hypercholesterolemic early stage, involvement of the entire skeleton except the vertebrae and skull, and abnormal EEG with seizures.

Ruiz-Maldonado et al. (1977) described the disorder in Mexican brothers, aged 3 and 5 years. Bierly et al. (1992) restudied the Mexican brothers reported by Ruiz-Maldonado et al. (1977). Photographs of the nodules on the elbows and on the outer part of the ear were provided. Bierly et al. (1992) found that the brothers had developed confluent opacification of their central corneas with anterior stromal involvement and peculiar anterior cortical cataracts. Bierly et al. (1992) could find reports of only 9 cases of this disorder.

Caputo et al. (1988) described a nonfamilial case in a 45-year-old woman who also had severe involvement of the gingival and palatal mucous membranes. The similarities to histiocytic dermatoarthritis (142730), a probable dominant disorder, should be noted.

Hidalgo-Bravo et al. (2015) reported a 10-year-old girl of Mexican mestizo origin who had onset of pain in her hands at age 23 months and soon after developed nodules of the interphalangeal joints and soles bilaterally. At 6 years of age, osteochondral lesions emerged symmetrically on her hands and feet, causing progressive deformity. Soon after, small rounded corneal opacities were detected bilaterally. Examination showed bilateral symmetric dermatosis over the surface of multiple joints, as well as 0.5- to 2-cm soft, smooth, movable, skin-colored nodules with regular borders on her nose, ear lobes, helix, and antihelix. She had flexion contractures of the interphalangeal joints of both hands, bilateral hallux valgus, and xanthomatous-appearing lesions on the hands, feet, ears, and nose. Ophthalmologic examination revealed central punctate opacities of the cornea, involving all layers except the epithelium. Biopsy of a hand nodule showed deposits of extracellular hyaline material in the papillary and reticular dermis, corresponding to dense collagen fibers on staining. X-rays showed decreased bone mineralization, metaphyseal widening typical of dysplasia, bilateral coxa vara with left hip osteoarthritis, metacarpal deformity with apparent sclerosis of interphalangeal joints, and apparent dislocation of the distal phalanges from metatarsals. Hidalgo-Bravo et al. (2015) stated that fewer than 15 patients had been reported with dermochondrocorneal dystrophy, and that this was the third patient of Mexican mestizo origin. The authors reviewed previously reported patients and tabulated their clinical features.

Inheritance

The transmission pattern of dermochondrocorneal dystrophy in the families reported by Francois (1949) and Jensen (1958) was consistent with autosomal recessive inheritance.