FaCD Online Syndrome Fact Sheet

Last updated: 14 Apr 2008

Name: Huriez syndrome

Synonym: Sclerotylosis, Scleroatrophic/Keratotic Dermatosis of Limbs

Mode of Inheritance: AD

Genes

TYS#, mapped to 4q23

Tumor features

skin cancer, squamous cell

Tumor features (possible)

colorectal cancer

Non-tumor features

hyperkeratosis
nails, hypoplastic
scleroatrophic dermatosis

Comment

This disorder is characterized by scleroatrophic and keratotic dermatosis of the limbs. Hypoplastic nails and squamous cell skin cancer are associated features.[1-5]. Although internal malignancies have been reported in Huriez syndrome there is as yet insufficient evidence for a significant increase in internal cancer risk in Huriez patients[2].
In rare cases 46,XX sex reversal is found in men with Huriez syndrome, which is associated with R-Spondin-1 gene mutations.

References

[1] Patrizi A, Di Lernia V, Patrone P. Palmoplantar keratoderma with sclerodactyly (Huriez syndrome). J Am Acad Dermatol 1992; 26(5 Pt 2):855-857.
[2] Delaporte E, N'guyen-Mailfer C, Janin A, Savary JB, Vasseur F, Feingold N, Piette F, Bergoend H. Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): a reappraisal. Br J Dermatol 1995; 133:409-416.
[3] Hamm H, Traupe H, Brocker EB, Schubert H, Kolde G. The scleroatrophic syndrome of Huriez: A cancer-prone genodermatosis. Br J Dermatol 134[3], 512-518. 1996.
[4] Tadlaoui I, Qasmi S, Belgnaoui F, Bouhllab J, Afifi Y, Meziane M, Senouci K, Hassam B, Zouaidia F, El Khannoussi B, Mahassini N. [Squamous cell carcinoma in Huriez syndrome.]. Annales de dermatologie et de venereologie 2008; 135(3):249-250.
[5] Riggio E, Spano A, Bonomi S, Nava M. Huriez syndrome: association with squamous cell carcinoma and a surgical approach. Plastic and reconstructive surgery 2005; 116(2):689-91.