A Nonfamilial Japanese Case of Huriez Syndrome: p53 Expression in Squamous Cell Carcinoma

A Rare Syndrome Resembling Scleroderma: Huriez Syndrome

“…Huriez syndrome is a rare autosomal dominant variant of PPKs. A few nonfamilial, sporadic cases have also been reported [2,3,4,5,6]. Since it was first reported in France, it has also been seen in India, Japan, Tunisia, Germany, and Italy [2,3,4].…”

“…The importance of early diagnosis lies in the fact that SCC arises in around 15% of affected patients. It is characterized by its early onset, more aggressive behavior and metastasis [1,2,3,4]. Affected individuals carry a >100-fold higher risk for the development of SCC [7].…”

“…Lee et al [9] localized the position of the gene to be 4q23k. Watanabe et al [4] found positive staining of p53 in atypical keratinocytes and suggested that p53 mutations may be responsible for the development of actinic keratosis and SCC in Huriez syndrome. The immunohistochemistry is characterized by a marked reduction in CD1a, Lag+, and S-100 epidermal Langerhans cells.…”

“…The development of aggressive squamous cell carcinoma (SCC) arising in the scleroatrophic area is a distinctive feature of the syndrome. Early diagnosis is important due to the early onset, mostly in the third to fourth decades of life, and aggressive progress of SCC, which occurs in around 15% of affected individuals [1,2,3,4]. …”

Hereditary Palmoplantar Keratosis

“…It was first described in two large pedigrees from northern France [10]. In addition to its occurrence in French patients, it has also been reported in Tunisia, Germany and Italy [11]. Onset occurs in infancy.…”