Hereditary epidermolytic palmoplantar keratoderma

Abstract

We describe herein a patient in whose family 11 of 20 members have a palmoplantar keratoderma. The pathologic findings in the proband were those of epidermolytic hyperkeratosis. As in the other families described, the disease was found to be inherited as an autosomal dominant trait. All involved family members had hyperkeratosis of the palms and soles as infants. Light microscopy showed hyperkeratosis, hypergranulosis with large irregular keratohyalin granules, and large clear spaces in the cells of the granular and upper spinous layers. Our electron microscopic findings showed that the clear spaces were areas of cytoplasm filled with a fibrillar material and cellular organelles; abnormal clumps of tonofilaments and keratohyalin were also present. We consider this disorder to be a form of keratoderma rather than a localized ichthyosis.

Epidermolytic variant of hereditary palmoplantar keratoderma

“…Palmoplantar keratoderma is not a characteristic of EH. Therefore, although epidermolytic palmoplantar keratoderma may breed true, show kinetic changes similar to EH (Klaus et al, 1970) and reveal ultrastructural features common to EH and other diseases (Fritsch et al, 1978;Blasik et al, 1981), we agree with Blasik et tz/. (1981) that these patients have a variant of Unna-Thost keratoderma with a distinctive histology rather than a localized form ofthe ichthyosis known as EH.…”

“…Hyperkeratotic lesions on contiguous or remote sites and annular constrictions of digits arc not characteristic of classical KPPH. The histopathology of KPPH is usually not specific, but changes resembling epidermolytic hyperkeratosis (EH) have been reported in six families (Klaus, Weinstein & Frost, 1970;Fritsch, Honigsmann & Jaschkc, 1978;Blasik, Dimond & Baughman, 1981).…”

A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis

“…In another form of EHK, ichthyosis bullosa of Siemens, mutations occur in the late differentiation keratin K2e with filament network collapse and cytolysis occurring only in the late spinous and granular cells [50]. Point mutations in several keratin genes expressed at different body sites have also resulted in loss of keratinocyte integrity and a variety of epidermal disorders: epidermolytic palmoplantar keratoderma is caused by mutations in K9 and results in blisters and hyperkeratosis of the palms and soles [5,7,32,51,58]. Two major subtypes of pachyonychia congenita (PC) are recognized: PC type I is caused by mutations in K6 or K16 and results in abnormal nail formation and clumped filaments in the keratinocytes of the palms, soles, and oral mucosa [9,36].…”

Hereditary Palmoplantar (Epidermolytic) Keratoderma: Illustration Through a Familial Report

“…The clear areas of cytoplasm are filled with a fibrillar material and cellular organelles, abnormal clumps of tonofilaments, and keratohyalin granules. [10][11][12][13] Electron microscopy is a useful adjunct to define the details of the features and might assist in differentiating clinical variants of HPPK. Histopathologic examination performed on 91 biopsies taken from the dominant form of HPPK revealed no case of epidermolytic PPK.…”