Hereditary Palmoplantar Keratoderma: A Practical Approach to the Diagnosis

The ridged skin of the palms and soles has several unique features: (i) presence of dermatoglyphics created by alternating ridges and grooves forming a unique pattern, (ii) presence of the highest density of eccrine sweat glands and absence of pilosebaceous units, and (iii) differential expression of keratins compared to the glabrous skin. These features explain the preferential localization of palmoplantar keratoderma (PPK) and several of its characteristic clinical features. PPK develops as a compensatory hyperproliferation of the epidermis and excessive production of stratum corneum in response to altered cornification of the palmoplantar skin due to mutations in the genes encoding several of the proteins involved in it. PPK can manifest as diffuse, focal, striate, or punctate forms per se or as a feature of several dermatological or systemic diseases. There is a wide genetic and phenotypic heterogeneity in hereditary PPK, due to which reaching an accurate diagnosis only on the basis of clinical features may be sometimes challenging for the clinicians in the absence of molecular studies. Nevertheless, recognizing the clinical patterns of keratoderma, extent of involvement, degree of mutilation, and associated appendageal and systemic involvement may help in delineating different forms. Molecular studies, despite high cost, are imperative for accurate classification, recognizing clinical patterns in resource poor settings is important for appropriate diagnosis, genetic counseling, and management. This review intends to develop a practical approach for clinical diagnosis of different types of hereditary PPK with reasonable accuracy.