Summary
Ichthyoses are a heterogeneous group of dermatoses characterized by dry and scaly skin due to impaired keratinization. They are associated with various diseases, but may also be idiopathic. Ichthyosis vulgaris is the most common type, followed by X-linked ichthyosis. Treatment for both of these conditions mainly consists of skin moisturizers and possibly topical retinoids.
Ichthyosis vulgaris
- Epidemiology: most common type of hereditary ichthyosis
- Etiology: autosomal dominant inheritance; associated with atopic diseases
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Clinical presentation
- Onset usually between 3 and 12 months of age
- Lesions
- Diagnosis: clinical
- Treatment: skin moisturizers; (e.g., creams containing urea or panthenol), topical retinoids
- Prognosis: : good prognosis; lesions usually disappear during adolescence
References:[1][2][3]
X-linked ichthyosis
- Epidemiology: 1 in about every 6000 male births
- Etiology: X-linked recessive trait (transmitted only to males) → inherited deficiency of the enzyme called steroid sulfatase
- Clinical presentation
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Diagnosis
- History and clinical features
- Biochemical analysis of the placenta, skin fibroblasts, and keratinocytes
- Genetic analysis
- Prenatal diagnostic tests
- Treatment
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Prognosis
- Mild chronic condition that does not improve with age (unlike ichthyosis vulgaris)
- Responds well to symptomatic treatment
References:[1][2][4][5]