A Rare Case Report of Rothmund Thomson Syndrome
A Rare Case Report of Rothmund Thomson Syndrome
DOI:
https://doi.org/10.70284/njirm.v8i5.1319Keywords:
Poikiloderma, skeletal abnormalities, Failure of eruption of teethAbstract
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. RTS also present dental abnormalities like malformation: microdontia and failure of eruption. We report an unusual patient with Rothmund-Thomson syndrome (RTS), a genodermatosis. The patient is 19 year old with poikiloderma, skeletal abnormalities and dental abnormalities. In this case report evaluation of the various abnormality of the patient has been reviewed. [Payal A NJIRM 2017; 8(5):105-107]
References
1. Lidia L, Gaia R, Ludovica V. Rothmund-Thomson syndrome. Orphanet J Rare Dis. 2010; 5:1-16.
2. Thomson MS. Poikiloderma congenitale. Brit J Dermatol. 1936; 48:221-234. 3. Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype–phenotype correlation with RECQL4 mutation status. American Journal of Roentgenology.2008; 191:W62-6.
4. Vennos EM, Collins M, James WD. Rothmund- Thomson syndrome: review of the world literature. J Am Acad Dermatol. 1992; 27:750–62.
5. Katalin B, MÃta KG, Béla I. Rothmund-thomson syndrome and cutan T-cell lymphoma in childhood. Open J of Pediatr.2013; 3:270-3.
6. Sujaya M, Vikram KM. Rothmund-Thomson syndrome. Indian dermetol online J.2014; 5:518-19.
7. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001; 102: 11-7.
8. Sharma NL, Mahajan VK, Bhardwaj P. Rothmund-Thomson syndrome (Thomson type). Indian J Dermatol 2003; 48: 100-2.
9. Passi D, Mehta G, Vishwakerma K, Singh P. Ectodermal Dysplasia: Case Report & Literature Review. European Journal of Dental Therapy and Research. 2013; 3 :170-3.
2. Thomson MS. Poikiloderma congenitale. Brit J Dermatol. 1936; 48:221-234. 3. Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype–phenotype correlation with RECQL4 mutation status. American Journal of Roentgenology.2008; 191:W62-6.
4. Vennos EM, Collins M, James WD. Rothmund- Thomson syndrome: review of the world literature. J Am Acad Dermatol. 1992; 27:750–62.
5. Katalin B, MÃta KG, Béla I. Rothmund-thomson syndrome and cutan T-cell lymphoma in childhood. Open J of Pediatr.2013; 3:270-3.
6. Sujaya M, Vikram KM. Rothmund-Thomson syndrome. Indian dermetol online J.2014; 5:518-19.
7. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001; 102: 11-7.
8. Sharma NL, Mahajan VK, Bhardwaj P. Rothmund-Thomson syndrome (Thomson type). Indian J Dermatol 2003; 48: 100-2.
9. Passi D, Mehta G, Vishwakerma K, Singh P. Ectodermal Dysplasia: Case Report & Literature Review. European Journal of Dental Therapy and Research. 2013; 3 :170-3.
Downloads
Published
2018-02-06
How to Cite
Andharia, P., Jadeja, N., Raval, N., & Asrani, M. (2018). A Rare Case Report of Rothmund Thomson Syndrome: A Rare Case Report of Rothmund Thomson Syndrome. National Journal of Integrated Research in Medicine, 8(5), 105–107. https://doi.org/10.70284/njirm.v8i5.1319
Issue
Section
Case Report
