Abstract
Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome and immune deficiency. Although granulomatous disorders are sometimes seen after Herpes zoster, they are even more rare after Varicella primary infection. Granulomas have hitherto not been described in Rothmund-Thomson syndrome. With this report we aim to stress the importance of screening for immune deficiency in patients with Rothmund-Thomson syndrome.
Highlights
Rothmund-Thomson syndrome ((RTS) OMIM 268400) is a rare autosomal recessively inherited genodermatosis with a heterogeneous clinical presentation
We present a patient with RTS and immune deficiency who developed granulomatous skin lesions after primary Varicella zoster virus (VZV) infection
We describe a patient with Rothmund-Thomson syndrome and humoral immune deficiency with granulomatous skin lesions after a VZV infection
Summary
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. 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]
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