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At a glance

Inherited condition affecting skin, eyes, and digits.

Synonym

CASS.

Incidence

Described in one family with five affected siblings on Rodrigues Island, a territory of Mauritius in the Indian Ocean (approximately 1,600 km east of Madagascar). Of the 10 siblings in this family, five were affected. Another patient from Italy was reported with similar findings, except for a lack of cataract.

Genetic inheritance

Autosomal recessive.

Diagnosis

Based on the clinical features.

Clinical aspects

All affected members are of normal intelligence and body height. In the family from Rodrigues Island, this ectodermal dysplasia presents with a triad of total congenital alopecia, bilateral congenital cataracts, and unusual skin changes. Total congenital alopecia includes all body hair (scalp, facial, pubic, and axillary hair). All patients suffer from congenital, bilateral, dense, nuclear cataracts that lead to severely decreased vision (light perception only). The typical skin changes described include progressive hyperkeratosis of palms and soles with dystrophic changes of the nails. In addition, the skin over the digits appears as either sclerosed or thinned and tight (sclerodactyly-like) with poor healing after already minor trauma. These skin changes lead to contractures with deforming bands, nodules, and pseudo-Ainhum formation. The progressive course of the skin changes seems to stabilize after puberty with no further progression. All other organ systems appear normal, in particular, teeth, skin pigmentation, and sweating are unaffected. Two affected siblings died of acquired infections. The girl from Italy was born with scalp and facial hair, but lost them within the first month of life (trichorrhexis nodosa was diagnosed on the rare residual hair). Progressive thickening of the skin at the lateral and medial aspects of palms and soles developed during late infancy and eventually also spread to the fingers resulting in skin desquamation, contractures, and poor wound healing. These changes subsequently involved the fingers and partly extended over the extensor surfaces causing contractures and recurrent spontaneous wounds, which healed with difficulty. Mild nail dystrophy with longitudinal ridging and furrows and light yellow discoloration was noted. Annular constriction bands (pseudo-Ainhum) affected fingers II and V bilaterally. The rest of the body showed marked keratosis pilaris. All other organ systems were normal. Cataract was not present in this patient.

Precautions before anesthesia

Routine preoperative assessment.

Anesthetic considerations

Anesthesia in this condition has not been described. No anesthesia concerns specific to this syndrome are expected. Peripheral venous access should not be affected since the dorsums of the hands and feet are not affected by the skin changes.

Pharmacological implications

None specific to this syndrome.

Other conditions to be considered

  • Ainhum: Narrow strip of hardened ...

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