Huriez syndrome Q84.2

Very rare, autosomal dominantly inherited genodermatosis (7 families have been described so far) characterized by the triad:

• Diffuse scleroatrophy of the hands with sclerodactyly and strikingly short fingers,
• Diffuse palmoplantar keratosis...
• Pronounced hypoplastic nails.

Of particular clinical importance is the development of aggressively growing carcinomas with a high metastatic potential in about 15% of affected patients. It is therefore assumed that there is a precancerous predisposition in Huriez syndrome.

Autosomal dominant inherited gene defect of the skin-specific short isoform of SMARCAD1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1) on chromosome 4 (gene locus: 4q23). SMARCAD1 plays a role in the initial step of double-strand break repair ("end resection"). This repair defect explains the predisposition of patients to develop squamous cell carcinoma at an early stage. Furthermore, it is discussed that SMARCAD1 promotes a depletion of dermal Langerhans cells.

• Diffuse scleratrophy of the hands occurring in both men and women; similar changes, usually not so pronounced on the feet; often there is no Raynaud's symptom. Mostly distinct sclerodactyly. The hands and feet show extensive lamellar hyperkeratosis, which is intensified at pressure points. The skin is dry overall, there is hypohidrosis. The face shows telangiectasia. The nails are hypoplastic.
• Occasionally associations with foudroyant metastatic carcinomas of the skin have been described (Çelik NS et al. 2018). These squamous cell carcinomas develop in the 3-4 decade of life and occur in regions also characterized by sclerosis and atrophy. Patients often develop intestinal carcinomas.

early (3rd-4th decade of life) development of squamous cell carcinomas in up to 15% of patients with a high risk of metastasis to lesional skin (palmoplantar).

Furthermore, the occurrence of oropharyngeal and gastric carcinomas has been described.

Regarding the underlying disease, a therapy is not known. Preventive consistent sun protection. If carcinomas occur in lesional skin (palms and soles), symptomatic therapy.

1. Çelik NS et al. (2018) A Rare Syndrome Resembling Scleroderma: Huriez Syndrome. Skin Appendage Disord 4:82-85.
2. Guerriero C et al (2000) Huriez syndrome: case report with detailed analysis of skin dendritic cells. Br J Dermatol 143: 1091-1096
3. Huriez C et al (1965) Génodermatosis scléroatrophiante et kératodermique des extrémites. Ann Dermatol Syphiligr 96: 135-146
4. Watanabe E et al. (2003) A nonfamilial japanese case of Huriez syndrome: p 53 expression in squamous cell carcinoma. Dermatology 207: 82-84
5. Günther C, et al. (2018) SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility. J Invest Dermatol 138:1428-1431.