Clinical and Genetic Features of Some Inherited Ichthyoses
Disorder | Prevalence | Gene Mutation | Onset | Type of Scale | Distribution | Associated Clinical Findings |
|---|---|---|---|---|---|---|
Nonsyndromic ichthyoses | ||||||
Ichthyosis vulgaris (autosomal dominant) | Prevalence varies by ethnicity: 10:792 in a study of English schoolchildren versus 1:5025 in a Russian cohort study† | FLG | Childhood | Fine | Usually back and extensor surfaces but not intertriginous surfaces Usually many markings on palms and soles | Atopy |
X-linked recessive ichthyosis | Prevalence varies by ethnicity: 1:1500 males in a United States cohort study versus about 1:4000–6000 in European cohort studies† | STS | Birth or infancy | Large, dark, usually coarse (may be fine) | Prominent on neck and trunk Normal palms and soles | Corneal opacities |
Congenital autosomal recessive ichthyoses | ||||||
Lamellar ichthyosis | 1:300,000 | Many, eg, TGM1, ABCA12, ALOXE3 | Birth | Large, coarse, sometimes fine | Most of body Variable palm and sole changes | Hypohidrosis with heat intolerance |
Congenital ichthyosiform erythroderma* | 1:300,000 | Same as lamellar ichthyosis | Birth | Thick, warty At birth: Redness and blisters In adulthood: Scaling | Most of body Especially warty in flexural creases | Bullae, frequent skin infections |
Harlequin ichthyosis | < 1:100,000 | ABCA12 | Birth | Thick, porcelain-like, body armor–like with deep fissures | Entire body | Ectropion, lip eversion (eclabion), nasal hypoplasia, polyhydramnios, flexion deformities, dehydration, severe infection, respiratory insufficiency |
* This disorder is also called bullous congenital ichthyosiform erythroderma, or epidermolytic hyperkeratosis. Mutations are spontaneous in about 50% of cases. | ||||||
† Gutiérrez-Cerrajero C, Sprecher E, Paller AS, et al: Ichthyosis. Nat Rev Dis Primers 9(1):2, 2023. doi: 10.1038/s41572-022-00412-3 | ||||||