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


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


1.    CABRAL, R. E., QUEILLE, S., BODEMER, C. et al. Identification of new RECQL4 mutations in Caucasian Rothmund‐Thomson patients and analysis of sensitivity to a wide range of genotoxic agents. Mutat. Res, 2008, 643, 1-2, p. 41–47.

2.    CROTEAU, D. L., SINGH, D. K., HOH FERRARELLI, L. et al. RECQL4 in genomic instability and aging. Trends Genet, 2012, 28, 12, p. 624–631.

3.    HAPGOOD, G., PICKLES, T., SEHN, L. H. et al. Outcome of primary cutaneous anaplastic large cell lymphoma: a 20-year British Columbia Cancer Agency experience. Br. J. Haematol., 2016. DOI: 10.1111/bjh.14404. ISSN 00071048.

4.    KITAO, S., LINDOR, N. M., SHIRATORI, M. et al. Rothmund–Thomson syndrome responsible gene, RECQL4: Genomic structure and products. Genomics, 1999, 61, 3, p. 268276.

5.    KODET, R., MRHALOVÁ, M., KRSKOVÁ, L., STEJSKALOVÁ, E. Anaplastický velkobuněčný lymfom: přehled problematiky. Čes.-slov. Patol., 2003, 3, p. 102–114.

6.    LARIZZA, L., ROVERSI, G., VEROLOES, A. Clinical utility gene card for: Rothmund‐Thomson syndrome. Eur. J. Hum. Genet, 2013, 21, 7. DOI:10.1038/ejhg.2012.260.

7.    LARIZZA, L., ROVERSI, G., VOLPI, L. Rothmund-Thomson syndrome. Orphanet J. Rare Dis., 2010, 5. DOI: 10.1186/1750-1172-5-2. ISSN 17501172.

8.    MA, H., ABDUL-HAY, M. T-cell lymphomas, a challenging disease: types, treatments, and future. Int. J. Clin. Oncol., 2016. DOI: 10.1007/s10147-016-1045-2. ISSN 13419625.

9.    MIHÁL, V., MICHÁLKOVÁ, K., JAROŠOVÁ, M. a kol. Anaplastický velkobuněčný lymfom jako příčina horečky neznámého původu s uzlinovým syndromem. Pediatr. pro Praxi, 2009, 10, 6, p. 412–413.

10. SIMON, T., KOHLHASE, J., WILHEM, C. et al. Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. Am. J. Med. Genet A, 2010, 152A, 6, p. 1575–1579.

11. STINCO, G., GOVERNATORI, G., MATTIGHELLO, P. et al. Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. J. Dermatol., 2008, 35, 3, p. 154–161.

12. WANG, L. L., PLON, S. E. Rothmund-Thomson Syndrome. SourceGeneReviews, 1999 [updated 2016] In: PAGON, R. A., ADAM, M. P., ARDINGER, H. H. et al. GeneReviews, 1993–2016.

13. WANG, L. L., LEVY, M. L., LEWIS, R. A. et al. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am. J. Med. Genet., 2001, 102, 1, p. 11–17.

Dermatology & STDs Paediatric dermatology & STDs
Forgotten password

Don‘t have an account?  Create new account

Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.


Don‘t have an account?  Create new account