Abstract

Case Report

Endocrine abnormalities in two siblings with Rothmund Thomson Syndrome

Nagehan Aslan* and Ozgur Pirgon

Published: 11 October, 2018 | Volume 2 - Issue 1 | Pages: 041-045

Rothmund-Thomson syndrome is a rare autosomal recessive disorder characterized by poikiloderma (skin atrophy, telangiectasia, hyper- and hypopigmentation), congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease. Two siblings with Rothmund-Thomson Syndrome showed the following characteristic features: severe growth failure, dystrophic nails, absent eyelashes/eyebrows, small hands, clinodactyly, microdontia and congential poikiloderma. In addition, delayed sexual development with cryptorchidism in the male and Hashimato thyroiditis in the female patient were detected. These cases are presented here because of these endocrine patterns, with the aim of drawing attention to the invisible aspects of Rothmund-Thomson syndrome.

Read Full Article HTML DOI: 10.29328/journal.acem.1001010 Cite this Article Read Full Article PDF

Keywords:

Rothmund-thomson syndrome; Cryptorchidism; Endocrine

References

  1. Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999; 22: 82-84. Ref.: https://goo.gl/AdkJ5R
  2. Bloch B, Stauffer H. Poikiloderma-like changes in connection with underdevelopment of the sexual glands and dystrophia adiposogenitalis. Archives of Dermatology and Syphilology. 1929; 19: 22-34. Ref.: https://goo.gl/swFK9A
  3. Vennos EM, Collins M, James WD. Rothmund-Thomson syndrome: review of the world literature. J Am Acad Dermatol. 1992; 27: 750-759. Ref.: https://goo.gl/oq8ij4
  4. Werder EA, Mürset G, Illig R, Prader A. Hypogonadism and parathyroid adenoma in congenital poikiloderma (Rothmund-Thomson syndrome). Clin Endocrinol. 1975; 4: 75-82. Ref.: https://goo.gl/hnWH3Y
  5. Guyda H, MacLeod P, Colle E. Endocrine Aspects of the Rothmund-Thomson syndrome. Pediatric Research. 1975; 9: 689. Ref.: https://goo.gl/WZYpX3
  6. Haytaç MC, Oztunç H, Mete UO, Kaya M. Rothmund-Thomson syndrome: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002; 94: 479-484. Ref.: https://goo.gl/eankRi
  7. Polese L, Merigliano S, Mungo B, Pennelli G, Norberto L. Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis. Dis Esophagus. 2011; 24: 41-44. Ref.: https://goo.gl/Dq6L2J
  8. Stinco G, Governatori G, Mattighello P, Patrone P. Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. J Dermatol. 2008; 35: 154-161. Ref.: https://goo.gl/ctTqnt
  9. Sexton GB. Thornson’s syndrome (poikiloderma congenitale). Canadian Medical Association Journal. 1954; 70: 662.
  10. Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet Journal of Rare Diseases. 2010; 5: 2. Ref.: https://goo.gl/SiQ8Ne

Figures:

Figure 1

Figure 1

Figure 1

Figure 2

Similar Articles

Recently Viewed

Read More

Most Viewed

Read More

Help ?