王若光教授专题之[出生缺陷](18)鱼鳞病
(她介绍了两例国外的鱼鳞病案例)
[案例一]
Harlequin ichthyosis is a rare congenital ichthyosis classified under the category of Autosomal Recessive Congenital Ichthyoses, which also include lamellar ichthyosis and congenital ichthyosiform erythroderma. It is caused by functional null mutations in the ABCA12gene, a keratinocyte lipid transporter associated with lamellar granule formation. Patients have a classic clinical presentation at delivery and need neonatal intensive care treatment to maximize their chances of survival. Early oral retinoid therapy has been shown to increase survival in patients with harlequin ichthyosis [1], and we present a case of a 9-month-old male with this condition who has been treated with isotretinoin since day 7 of life.
Harlequin ichthyosis (HI) presents at birth with coarse, large plate-like scales with deep fissures, severe ectropion, eclabium, contractures of digits, and flattening of the ears and nose. Patients are usually born prematurely and do not have any brain or internal organ abnormalities. If patients survive the neonatal period, they continue with a persistent ichthyosiform erythroderma for life. We present a case of a 9-month-old male with HI who was started on treatment with isotretinoin on day 7 of life.
At 9 months, he continues with scaly erythematous skin on his trunk, face and extremities (Figure 3A,B) as well as thick hyperkeratotic plaques on the frontal scalp which have almost resolved with daily topical application of tazarotene 0.1% cream [2]. He has been diagnosed with hyperopia and anisometropia and now wears glasses. He continues to require frequent debridement of his ears, and he has mild contractures of his bilateral thumbs for which he receives physical therapy.
In conclusion, although HI was previously thought to be a fatal condition, more intensive care in the neonatal period and early use of retinoid therapy may increase survival of these patients. Unfortunately, the condition persists throughout life and can cause multiple medical complications after the neonatal period.