Generalized erythrokeratodermia progressiva symmetrica Darier-Gottron

A mother and hereon presented with erythrokeratodermia progressive symmetrica Darier-Gottron. Both patients developed symmetrical erythematous and hyperkeratotic plaques on the extremities and face at the age of 6 months. At the age of 2 1/2 years the son suffered from rapid progression of the disease to involve the entire skin. The disesase of his mother had shown a similar course, however,with spontaneous regression at the age of 10 years. The clinical features of this generalized condition were identical to congenital lamellar ichthyosis. Light microscopy was non-specific with orthohyperkeratosis, focal parakeratosis and acanthosis. Electron microscopy revealed numerous keratinosomes in the stratum granulosum, keratinosome-derived lamellae in the intercellular space and partly augmented keratohyalin with clumping. In the stratum spinosum short tonofilament bundles with clumping were remarkable. The child experienced a significant and persistent improvement with systemic retinoids. His mother's disease was successfully controlled with intermittent retinoid therapy. With the clinical and ultrastructural criteria presently available, an unambiguous differentiation between erythrokeratodermia progressiva symmetrica, usually a localized disorder of keratinization, however with intermittent generalization, and other disorders of keratinization seems difficult.