Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

Rothmund-Thomson syndrome ((RTS) OMIM 268400) is a rare autosomal recessively inherited genodermatosis with a heterogeneous clinical presentation. It is characterized by a characteristic facial rash appearing in infancy (poikiloderma), short stature, radial ray defects, variable degrees of osteopenia, sparse scalp hair, eyelashes and eyebrows, dental abnormalities and cataract. Moreover, RTS patients are at increased risk of cancer (especially osteosarcoma and non melanoma skin cancer, but also leukemia and a range of other tumors). The syndrome was originally described in 1868 by the German ophthalmologist Rothmund in patients with rapidly progressive juvenile cataract associated with skin abnormalities [1]. In the first half of the 20th century the English dermatologist Thomson mentioned two patients with cutaneous lesions that were similar to those reported by Rothmund, but without any ocular lesions [2]. In 1953 these two medical conditions were designated as the Rothmund-Thomson syndrome [3].Following the association of RTS to mutations in RECQL4 at 8q24, two clinical-molecular subsets of RTS have been proposed [4,5]. Mutations in RECQL4 are present in approximately one third of the clinically diagnosed RTS patients (RTS type II) and these patients phenotype is characterised by poikiloderma, bone defects and an incresased risk of osteosarcoma. In RTS type I patients, no RECQL4 mutations are found and poikiloderma, juvenile cataracts and ectodermal dysplasia dominate the clinical presentation [4]. The human RECQL4 gene consists of 21 exons spanning 6.5kb and encodes for a 1208 aminoacids protein [6]. There is evidence that RECQL4 plays multiple key roles in DNA metabolism, as it is involved in single-stranded DNA annealing activity, DNA replication, double strand break repair, and repair of UV or ionizing radiation induced DNA damage [7]. RTS and the function of RECQL4 have recently been excellently reviewed by Larizza et al [8].We present a patient with RTS and