Corneodermatoosseous Syndrome

Clinical Features

Stern et al. (1984) described a kindred in which 7 persons in 3 generations had a seemingly undescribed syndrome that combined unique corneal changes with diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth and dental problems. Patients complained of photophobia and burning and watering of the eyes. One required corenal transplant. Slit-lamp examination showed corneal epithelial changes; corneal biopsy showed mild dysplastic changes in the epithelium. Changes recurred in the transplanted cornea. The skin disorder was evident in the first year of life. The changes in the palms, soles, elbows, and knees were erythematous and scaly. Generalized erythroderma was present in 1. Affected persons were shorter than unaffected relatives (means for women 155 vs 168 cm; for men 163 vs 180). Brachydactyly and particular shortening of the distal phalanges were present in all. The teeth were soft and subject to early decay. The bones of the hands showed some medullary narrowing ('overtubulation'). Lesions of the palms and soles and of the cornea occur in type II tyrosinemia (Richner-Hanhart syndrome; 276600), an autosomal recessive, and in the syndromes of uncertain classification, probably autosomal dominant and autosomal recessive, respectively, reported by Zmegac and Sarajlic (1964) and Callan (1970).

Inheritance

The family reported by Stern et al. (1984) contained 3 instances of male-to-male transmission, indicating autosomal deminant inheritance.