Corneodermatoosseous Syndrome

At a glance

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

Synonyms

CDO Syndrome; Stern-Lubinsky-Durrie-Luckasen Syndrome.

Incidence

Unknown. Seven patients in three generations of one family have been described.

Genetic inheritance

Autosomal dominant.

Diagnosis

Based on the clinical findings and family history.

Clinical aspects

Premature birth (4-8 weeks) is frequent. The skin condition is already apparent in the first month of life, presenting with thickened, erythematous and scaly lesions on the elbows, palms, knuckles knees, and soles. Patients are of slightly shorter height than nonaffected family members. Clinical features involve the eyes (astigmatism, abnormal corneal structure with mild dysplastic changes in the corneal epithelium, photophobia with burning/blurring of the eyes, nyctalopia), the teeth (early dental decay and fragility secondary to abnormal softness), the skin (erythematous scaly skin, onychodysplasia and/or onycholysis, and diffuse palmoplantar hyperkeratosis and acanthosis), and the limbs (brachydactyly, terminal hypoplasia of the fingers, shortening of the fourth metacarpal, anomalies of the metacarpal heads, and mild cortical thickening and medullary narrowing of the shafts of metacarpal and phalangeal bones). Other reported, but inconstant findings include mild high frequency hearing loss, and membranoproliferative glomerulonephritis requiring kidney transplantation in one patient.

Precaution before anesthesia

Check for signs of bronchopulmonary dysplasia if the child required prolonged intubation after birth for prematurity. Assess and document dental status with regard to teeth at risk for damage during airway management (particularly direct laryngoscopy). Renal function should be assessed if kidney disease is suspected (complete blood count, hemoglobin, serum electrolytes, creatinine, urea).

Anesthetic considerations

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. Be wary of the dental issues in these patients, particularly when instrumenting the airway.

Pharmacological implications

Drugs with predominantly renal elimination should be avoided in the presence of renal insufficiency or their dose adjusted accordingly. Potentially nephrotoxic drugs and nonsteroidal anti-inflammatory drugs should be avoided.

Other condition to be considered

• ☞Tyrosinemia Type II (Oculocutaneous Tyrosinemia; Tyrosine Transaminase Deficiency; Tyrosine Aminotransferase Deficiency; Richner-Hanhart Syndrome; Oregon Type of Tyrosinemia): 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 see ☞Keratosis Palmaris et Plantaris (Overview).