| Literature DB >> 29765964 |
Nil Su Çelik1, Şirin Yaşar1, Sema Aytekin1, Pembegül Güneş2.
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.Entities:
Keywords: Autosomal dominant inheritance; Keratoderma; Nail disorder; Scleroderma-like findings; Sclerosis; Squamous cell carcinoma
Year: 2017 PMID: 29765964 PMCID: PMC5939708 DOI: 10.1159/000479036
Source DB: PubMed Journal: Skin Appendage Disord ISSN: 2296-9160