Corneodermatoosseous Syndrome

A syndrome characterized by the association of corneal changes with diffuse, palmoplantar hyperkeratosis, short stature, and premature birth.

Stern-Lubinsky-Durrie Syndrome.

Extremely rare syndrome (probably fewer than 15 cases have been described) with autosomal dominant inheritance.

Premature birth is frequent. Patients have a mild degree of short stature. Clinical features involve the eyes (astigmatism, abnormal corneal structure with mild dysplastic changes in the corneal epithelium, photophobia with burning/blurring of the eyes), the teeth (early dental decay and fragility secondary to abnormal softness), the skin (erythematous scaly skin, onychodysplasia and/or onycholysis, palmoplantar acanthosis, hyperkeratosis), and the limbs (brachydactyly, terminal hypoplasia of the fingers, shortening of the fourth metacarpal and anomalies of the metacarpal heads, medullary narrowing of the hand bones).

Anesthesia in this condition has not been described. Initially, problems may arise from prematurity. Otherwise, careful protection of the eyes (lubrication and taping) is recommended to prevent corneal injuries. Skin and nail lesions could make difficult placement and removal of skin electrodes for electrocardiography and (particularly self-adhesive) sensors for pulse oximetry.

Tyrosinemia Type II: A form of tyrosinemia characterized by herpetiform corneal ulcers and hyperkeratotic lesions of the tongue, digits, palms and soles, and mental retardation. Most patients are photophobic in bright light. These patients may fail to thrive and develop liver cirrhosis, renal tubular dysfunction, and vitamin D-resistant rickets. For other disorders associated with Hyperkeratosis Palmaris et Plantaris, please refer to:

Keratosis Palmaris et Plantaris (Overview).