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

Virendra N. Sehgal, MD; Kabir Sardana, MD; Sonal Sharma, MD; Dharmendra Raut, MBBS

Disclosures

Skinmed. 2004;3(6) 

In This Article

Abstract and Introduction

Hereditary palmoplantar keratoderma, a well-known clinical entity, is illustrated through a familial report of an unmarried young man who is the product of a consanguineous marriage (paternal and maternal grandmothers were sisters). The lesions were characterized by immense yellow waxy thickening of the skin surrounded by erythematous border (halo) and fissures/cracks associated with extensive scaling of the palms and soles. The lesions were bilateral and symmetrical. These features were supported by orthokeratotic hyperkeratosis hypergranulosis and acanthosis in hematoxylin-eosin stained tissue sections prepared from the soles. Mycelia/spores could not be identified on Periodic acid-Schiff (PAS) reaction. An autosomal dominant trait was revealed through family pedigree. An abridged update to recap the current status is highlighted.

Hereditary palmoplantar keratodermas (HPPKs) are a group of heterogeneous diseases unified/characterized through consistently progressive, extraordinary thickening of the stratum corneum of the palms and soles with conspicuous painful/discomforting fissures resulting in disability.[1] Ever since its initial clinical description,[2,3,4] the condition has established itself as an intriguing clinical entity. Accordingly, it has been the subject of detailed clinical studies supplemented by exploration of the genetic undertones on the limited clinical material available from time to time. Sporadic reports of its identification within a family -- covering several generations -- have been the subject of periodic reports that enrich the existing literature. It is apparent from the information thus far available that HPPK is an entity that largely expresses itself as an autosomal dominant or (rarely) an autosomal recessive trait. A succinct review of the topic to define its current status and pinpoint, if possible, any vacuum is therefore warranted. The details of a case of familial HPPK are reported as an illustration.

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