X‐linked Ichthyosis

Abstract

We report 5 families with X-linked ichthyosis, of whom 14 individuals were examined. The onset was between 1 month and 3 months after birth in seven cases out of 11. Ichthyosis was marked on the head, ears, abdomen and limbs. In some cases, the antecubital, popliteal and axillary fossae were affected. Dark brown scales, characteristic of X-linked ichthyosis, were observed in 11 cases out of 14. Histological examination revealed 3 to 5 layers of the granular layer in all of the nine cases examined. Ophthalmological slit lamp examination revealed bilateral deep corneal opacities in 5 cases out of 14 cases of X-linked ichthyosis. Punctate corneal clouding was observed in two out of 10 identified carriers of X -linked ichthyosis.All 24 children born of 7 cases of X-linked ichthyosis were not affected. All parents of patients with X -linked ichthyosis were also unaffected. Ichthyosis was observed in 26 male children out of 44 male children born of 21 carriers of X-linked ichthyosis. These data attest to the X-linked recessive mode of inheritance.