Successful Surgical Management of Keratoderma Hereditaria Mutilans

Abstract

Vohwinkel syndrome or keratoderma hereditaria mutilans (KHM), first described in 1929, is a very rare hereditary disease belonging to the group of palmoplantar keratodermas [7]. The syndrome is marked by hyperkeratosis of the palms and soles creating a typical honeycomb pattern and a starfish appearance on the extensor surfaces. In addition, constricting bands form on the digits, usually beginning with the fifth digits. Modern genetics have shown KHM results from a missense mutation of the proteins loricrin and connexin 26 [5, 6]. The disease can be sporadic or inherited in an autosomal dominant fashion with variable phenotypic expression. Published data suggest that this disease is more common among Caucasian women, and the disease manifests clinically in the neonatal period and progresses throughout life. The presence of constriction bands on the digits of the hands and feet, leading to progressive strangulation and auto-amputation, known as pseudo-ainhum, is a feature unique to KHM [2]. The disease may be associated with additional features such as alopecia, high-tone hearing loss, nail anomalies, and, in some cases, cleft lip and palate or facial asymmetry [3, 5]. Treatment of the pseudo-ainhum is often necessary to prevent ischemic necrosis of the fingertips. Relatively few cases have been reported, and results of treatment with various modalities are inconsistent and uncertain. Medical management includes the use of systemic synthetic retinoids [2–4], vitamin A derivatives, which enhance the differentiation and proliferation of epidermal tissues. Retinoids offer moderate success but are often limited by their toxicities and teratogenicity [1, 8]. Surgical treatments described include local tissue rearrangements, local flaps, and skin grafts. Optimal long-term results have not been readily obtainable with any treatment modality [2].