Rothmund-Thomson Syndrome Associated with Anaplastic Large Cell T-lymphoma: Case Report


Authors: S. Vachatová 1;  M. Salavec 1;  L. Krejčí 2
Authors‘ workplace: Klinika nemocí kožních a pohlavních, Fakultní nemocnice Hradec Králové, Univerzita Karlova v Praze, Lékařská fakulta v Hradci Králové, přednosta doc. MUDr. Miloslav Salavec, CSc. 1;  Národní centrum pro výzkum biomolekul, Přírodovědecká fakulta, Masarykova univerzita v Brně, ředitel ústavu prof. RNDr. Jaroslav Koča, DrSc. 2
Published in: Čes-slov Derm, 93, 2018, No. 1, p. 20-26
Category: Case interpretation

Overview

Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, eyelashes, and/or eyebrows, small stature, skeletal and dental abnormalities, cataracts and an increased risk of cancer, especially osteosarcoma. Authors describe a case of 35 year old man with poikiloderma, universal alopecia and anaplastic large T-cell lymphoma (ALCL). The skin manifestation first appeared at age of 23 years of the patient. Diagnosis of RTS was based on the clinical manifestation and genetic examination, that showed RECQ4 mutations presented at multiple levels. Sequencing of fibroblasts by Western blot analysis confirmed Gln253His mutation typical for RTS. Despite combined chemotherapy of ALCL the patient died 17 days after its initiation due to cardiac arrest. RTS is a rare genodermatosis. Because of increased risk of skin cancer, follow-up of patients with RTS is mandatory. 

Key words:

poikiloderma – Rothmund-Thomson syndrome – anaplastic large T-cell lymphoma


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Dermatology & STDs Paediatric dermatology & STDs
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