Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): a reappraisal

Abstract

Keratoderma with scleroatrophy of the extremities, also referred to as Huriez syndrome, is a rare, autosomal dominant condition, first described in 42 of 132 members of two families from northern France. The term sclerotylosis was proposed because of the pseudosclerodermatous appearance of the hands and digits. The distinctive feature of this syndrome is the risk of the development of squamous cell carcinoma on affected skin. Since the initial description of this disease, three other families, and possibly a fourth, have been reported. In the present study, we reassessed the clinical, pathological and genetic data in 114 members of one of the two original families, of whom 27 were affected by this syndrome.

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

“…Deminatti et al [16] reported a linkage between Huriez syndrome and the MNS blood group, later mapped to chromosome 4 (4q28-31). However, subsequent studies failed to show any clear linkage for the disorder [5,8]. Recently, Lee et al [6] have performed a linkage analysis in members of one of the families first described by Huriez et al [2] and another family originating from the same region of northern France, and mapped the gene to chromosome 4q23.…”

“…The sites of SCC have been described in 13 cases of Huriez syndrome; 12 cases were on the hand (6 cases on the finger [1,2,5,8,15], 2 cases on thenar eminence [7,9] and the rest just on the 'hand') and 1 case on the heel [9]. SCC that develops in Huriez syndrome has been reported to be more aggressive than SCC in the general population.…”

“…In addition to its occurrence in French patients, there are reports about Tunisian [19], Indian [10], German [7], English [5] and Italian [9] patients. The Indian case was reported originally as a keratoderma of the Unna-Thost type [10], which is most important for the differential diagnosis, but later it was speculated that this family suffered from Huriez syndrome [8]. Regarding Japanese patients with Huriez syndrome, in addition to the present case, there were two reports: of a 23-year-old woman, who did not have SCC [14], and a 46-year-old woman, who developed SCC on a finger [15].…”

“…Other features, such as hypohidrosis [4] and flexion contractures of the little finger [5], are also associated with the disorder, and most importantly the risk of developing squamous cell carcinomas (SCC) on the affected skin is high. SCC occurs in F15% of affected individuals [6], and SCC in Huriez syndrome are characterized by their early onset, mostly in the third to fourth decades of life, and by their high metastatic potential [7,8]. To date, 13 families [6,[9][10][11][12]] and 3 sporadic cases [13][14][15] have been described.…”

Papillon-Lefèvre Syndrome and Malignant Melanoma

“…In fact, no reports have described the association of PLS with nonmelanoma skin carcinomas, such as squamous cell carcinoma, developing within the hyperkeratotic skin. In contrast, other types of PPK, such as Olmsted syndrome [25] and Huriez syndrome [26, 27], are reportedly associated with squamous cell carcinoma. In this context, mal de Meleda might also possess this preferential tendency of melanoma development; so far, no association of nonmelanoma skin cancers has been reported for this disease.…”