Version June 2024
| Inheritance and pathogenesis | Key clinical features | |
| Icthyosis vulgaris | Autosomal dominant | Relatively common (1:250 to 1:300). Fine, white translucent scales predominantly on extensor surfaces of extremities with sparing of flexures, palms, soles, and face. Hyperlinear palms. Often associated with keratosis pilaris and atopy including eczema. Onset during childhood. Typically improves with age. |
| Fillagrin defect resulting in a retention hyperkeratoses | ||
| (Normal epithelial turnover) | ||
| X-linked ichthyosis (steroid sulfatase deficiency) | X-linked recessive | 1:6000 men. Failure to progress in labor in mother of affected fetus (placental sulfatase deficiency). Large brown "dirty" adherent scales with relative sparing of flexures, palms, soles, and face. Asymptomatic corneal opacities (50 percent of adult males). 12 to 15 percent incidence of cryptorchidism and independently increased risk of testicular cancer. Onset at two to six weeks. Gradually worsens with age. |
| Steroid sulfatase deficiency results in cholesterol sulfate accumulation and a retention hyperkeratoses | ||
| (Normal epithelial turnover) | ||
| Lamellar ichthyosis | Autosomal recessive | 1:300,000 live births. "Collodion baby" at birth (translucent taut parchment-like membrane encasing infant, ectropion, eclabium, generalized erythroderma; complications include sepsis, protein loss, and electrolyte abnormalities). Children and adults develop large brown polygonal scales involving entire body surface, with increased involvement in flexural folds. Palmoplantar keratoderma, scarring alopecia, nail dystrophy, and hypohidrosis with heat intolerance frequently seen. Ectropion is also almost always present. |
| Transglutaminase deficiency | ||
| (Increased epithelial turnover) | ||
| Congenital ichthyosiform erythroderma | Autosomal recessive | "Collodion baby" at birth (see above). Children and adults develop generalized erythroderma with fine white scaling. Palmoplantar keratoderma, scarring alopecia, and persistent ectropion may also be seen. |
| (Increased epithelial turnover) | ||
| Epidermolytic hichtyosis (epidermolytic hyperkeratosis or bullous congenital ichthyosiform erythroderma) | Autosomal dominant | Neonatal period with widespread blistering and erythema. Later infancy and adulthood characterized by generalized hyperkeratosis with dark scales and spiny ridges especially pronounced flexurally. Denuded areas of skin where scales shed with full thickness stratum corneum also seen. Focal bullae due to secondary infection may also develop. |
| 50 percent due to spontaneous mutations of keratins 1 and 10 | ||
| (Increased epithelial turnover) | ||
| Harlequin ichthyosis | Autosomal recessive | Massive armor-like plates of scale with deep fissures encasing fetus. Severe ectropion, eclabium, deformed or absent ears, nose, fingers, toes. Infants are born stillborn or generally die shortly after birth due to respiratory and feeding compromise due to constriction. |
| (Increased epithelial turnover) |
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