A Rare Syndrome Resembling Scleroderma: Huriez Syndrome

Abstract

Huriez syndrome, also referred to as “sclerotylosis,” is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nails. The development of aggressive squamous cell carcinoma (SCC) arising in the scleroatrophic area is also 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. Our patient had palmoplantar keratoderma, scleroatrophy of the hands, and hypoplastic nails. Her mother and father had a second-degree blood relation. Two of her siblings had similar complaints and findings. She showed no sign of actinic keratosis or SCC, and was called for regular follow-ups. With this case, we want to emphasize that Huriez syndrome is a rare genodermatosis, mimicking scleroderma-like acrosclerosis, and early diagnosis is critical for recognizing and preventing the development of SCC.

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome

“…A significant percentage of HRZ patients, including those from Family 1, 2, and 3, develop cSCC at an early age (Çelik et al, 2018;Delaporte et al, 1995;Guerriero et al, 2000;Hamm et al, 1996;Huriez et al, 1969;Jairath et al, 2015;Kavanagh et al, 1997;Kumar et al, 2016;Lambert et al, 1977;Lee et al, 2000;Man et al, 2011;Patrizi et al, 1992;Piacentino, 1995;Srinivas & Sekar, 2008;Wu & Wei, 2019). The potentially aggressive and metastatic cSCC presents initially as innocuous lesions, most commonly found on their hands (Çelik et al, 2018;Delaporte et al, 1995;Downs & Kennedy, 2009;Guerriero et al, 2000;Hamm et al, 1996;Huriez et al, 1969;Jairath et al, 2015;Kavanagh et al, 1997;Kumar et al, 2016;Lambert et al, 1977;Lee et al, 2000;Man et al, 2011;Patrizi et al, 1992;Piacentino, 1995;Srinivas & Sekar, 2008;Watanabe et al, 2003;Wu & Wei, 2019). As Langerhans cells (LCs) have been widely shown to provide immune surveillance against cancer through the presentation of cancer cell antigens, several groups have examined LC markers on affected skin of HRZ patients (Guerriero et al, 2000;Hamm et al, 1996;Wu & Wei, 2019).…”

“…Huriez syndrome (HRZ; MIM181600) is a Mendelian genodermatosis characterized by scleroatrophy of the hands and feet, hypoplasia of the nails, palmoplantar keratoderma, and risk of early onset cutaneous squamous cell carcinoma (cSCC) (Çelik et al, 2018; Delaporte et al, 1995; Downs & Kennedy, 2009; Guerriero et al, 2000; Hamm et al, 1996; Huriez et al, 1969; Jairath et al, 2015; Kavanagh et al, 1997; Kumar et al, 2016; Lambert et al, 1977; Lee et al, 2000; Loh et al, 2021; Man et al, 2011; Patrizi et al, 1992; Piacentino, 1995; Srinivas & Sekar, 2008; Watanabe et al, 2003; Wu & Wei, 2019). Approximately, 15% of HRZ patients are predisposed to cSCC which is restricted to affected acral sites.…”

Clinical and Histopathological Features of Scleroderma-like Disorders: An Update

“…Histopathological specimens show hyper-and parakeratosis, hypergranulosis, irregular acanthosis and mild papillomatosis. Immunohistochemical analysis shows a marked reduction in the epidermal cells of Langerhans' CD1a, Lag + and S-100 expression [38].…”

“…No visceral, musculoskeletal or immunological abnormalities are detected. On a histological level, normal epidermis, thickened collagen bundles, increased deposits of mucin and, sometimes, mucopolysaccharides in the connective tissue with the trapping of adipocytes are observed [38]. The interstitial ground substance of the upper dermis appears slightly grainy and eosinophilic.…”

Type I Interferon Induction in Cutaneous DNA Damage Syndromes

“…Patients exhibit palmoplantar keratoderma, palmoplantar scleroatrophy, onychodystrophy, adermatoglyphia, eczema, telangiectasia, and a high risk for developing CSCC at a young age (3rd to 4th decades) ( 55 – 57 ). Due to exclusive mutations in the skin specific isoform of SMARCAD1, which is mostly expressed in the skin and tongue, other malignancies of other cell types have not been described ( 19 , 57 , 58 , 66 ).…”