Autosomal Dominant Congenital Ichthyosis and Keratoderma Hereditaria Mutilans of Vohwinkel

Abstract

In 1929, Vohwinkel [5] described keratoderma hereditaria mutilans (KHM) as a distinct type of palmoplanar keratosis (PPK). The disease is characterized by diffuse palmoplantar hyperkeratoses having a “honeycombed” appearance. Moreover, it features constricting bands around the distal fingers and toe joints. The keratotic constrictions can be very severe and may result in loss of fingers and toes, especially of the fifth and fourth digits. Another abnormality consistently associated with KHM is linear circumscribed keratotic lesions on the elbows and knees [2-4]. Moreover, some patients have a mild ichthyosis [1, 3, 6]. We (H.Hamm and H.Traupe 1988, unpublished) have seen a further patient with KHM and mild generalized ichthyosis (Fig. 75), but the classic mutilations were absent in our case. Apparently, constrictions of the digits are not an obligate feature of KHM. Histologic studies in our case disclosed a scattered parakeratosis associated with a preserved granular layer. These histologic features are, of course, nonspecific, but they resemble those found in autosomal dominant lamellar ichthyosis.