KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA (KLICK-SYNDROME) - A RARE, AUTOSOMAL RECESSIVE DISORDER OF KERATOHYALINE FORMATION

We report a 32-year-old man with an unusual combination of congenital ichthyosis, sclerosing palmoplantar keratoderma with pseudoainhum, and bizarre striate hyperkeratosis in the flexures, but no systemic invol vement. The condition, which improved on oral etretinate therapy, had not appeared previously in the family. On light microscopy the involve d epidermis showed marked acanthosis with hypergranulosis and hyperker atosis. Electron microscopy disclosed numerous large keratohyaline gra nules in superficial keratinocytes. The clinical picture and histology are virtually identical to those of a Spanish family suffering from a n autosomally recessive skin disease of unknown etiology. We hypothezi se that the condition is due to a genetic defect in the formation of k eratohyaline granules.