Klippel-Feil syndrome and vitíligo. Clinical presentation of two diseases

Authors

  • German Guerrero Oliva Centro Dermatológico "Dr. Ladislao de la Pascua" Universidad Nacional Autónoma de México. Ciudad de México https://orcid.org/0000-0002-9275-3303
  • Ximena Trejo-Ortega Universidad Nacional Autónoma de México. Ciudad de México
  • Martha Alejandra Morales Sánchez Unidad de investigación. Centro Dermatológico “Dr. Ladislao de la Pascua”. Ciudad de México.
  • Fermín Jurado Santa Cruz Unidad de investigación. Centro Dermatológico “Dr. Ladislao de la Pascua”. Ciudad de México.
  • María Luisa Peralta Pedrero Unidad de investigación. Centro Dermatológico “Dr. Ladislao de la Pascua”. Ciudad de México.

Keywords:

Klippel-Fei síndrome, vitiligo, dermatological center.

Abstract

Introduction: Since the first Klippel-Feil syndrome report, no importance has been taken to the evaluation of dermatological comorbidities in this syndrome, which by their nature could coincide in similar pathogenic processes. Mexico is the second country with the highest incidence of vitiligo, its main characteristic is the appearance of acromic spots on the skin.

Objective: To report the unusual clinical presentation of Klippel- Feil syndrome and vitiligo.

Case presentation: 27-year-old female patient who attends to Dermatological Center "Dr. Ladislao de la Pascua” referring increase of acromic vitiligo spots on legs and arms skin. The patient was diagnosed at the age of 12 with vitiligo by a private dermatologist, through a clinical examination. She also had chronic lumbar pain and fatigue. Chronic pain and fatigue increased over the years. At the age of 27, the dermatologist referred her to Hospital Infantil de México “Federico Gómez” where they performed diagnostic imaging tests for Klippel-Feil syndrome, confirming the diagnosis.

Conclusions: The clinical presentation of Klippel-Feil syndrome and vitiligo reported in this case promotes the emphasis on dermatological clinic by specialists outside dermatology. Vitiligo is an etiopathogenically complex disease, the study of existing comorbidities in vitiligo could expand the elements needed for its greater understanding.

 

Downloads

Download data is not yet available.

Author Biography

German Guerrero Oliva, Centro Dermatológico "Dr. Ladislao de la Pascua" Universidad Nacional Autónoma de México. Ciudad de México

Medico Cirujano Maestro en Ciencias

References

1. Gawkrodger DJ, Ormerod AD, Shaw L, Whitton ME, Watts MJ, Anstey A V, et al. Guideline for the diagnosis and management of vitiligo. 2008;1051–76.

2. Ezzedine K, Eleftheriadou V, Whitton M, Van Geel N. Vitiligo. Lancet. 2015;386(9988):74–84.

3. Picardo M, Ezzedine K, Hamzavi I, Harris JE, Parsad D, Taieb A. No Title. 2015;1.

4. Taïeb A. Vitiligo as an inflammatory skin disorder: A therapeutic perspective. Pigment Cell Melanoma Res. 2012;25(1):9–13.

5. Ezzedine K. issues : the Vitiligo Global Issues Consensus Conference. Pigment Cell Melanoma Res. 2012;25(3):1–28.

6. Sheth VM, Guo Y, Qureshi AA. Comorbidities associated with vitiligo: A ten-year retrospective study. Dermatology. 2014;227(4):311–5.

7. Dahir AM, Thomsen SF. Comorbidities in vitiligo: comprehensive review. Int J Dermatol. 2018;57(10):1157–64.

8. Dahir AM, Thomsen SF. Comorbidities in vitiligo : comprehensive review. 2018;1–8.

9. Rork JF, Rashighi M, Harris JE. Understanding autoimmunity of vitiligo and alopecia areata. 2016;1–7.

10. Baldini E, Odorisio T, Tuccilli C, Persechino S, Sorrenti S, Catania A, et al. Thyroid diseases and skin autoimmunity. 2018;

11. Cabral R, Clemente E, Cabanillas A. clínicas. 2008;34(7):2007–9.

12. Palacios Martínez D, Díaz Alonso RA, Gutiérrez López M, Gordillo López FJ. Síndrome de Klippel-Feil, una cervicalgia poco frecuente. Semergen. 2013;39(8):63–7.

13. Perez RG, García R. Un caso raro de cervicalgia crónica : el síndrome de Klippel-Feil. 2011;37(1):45–8.

14. Muzumdar D, Goel A. Posterior Cranial Fossa Dermoid in Association with Craniovertebral and Cervical Spinal Anomaly : Report of Two Cases. 2001;400012:158–61.

15. de Rubens-Figueroa J, Zepeda-Orozco G, González-Rosas A. Boletin Medico del Hospital Infantil de Mexico. Bol Med Hosp Infant Mex [Internet]. 2005;62(5):348–55. Available from: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S1665-11462005000500009

16. Algom MMD, Schlesinger ZMD. Prolapse of the Mitral Valve in Klippel- Feil Syndrome. Chest [Internet]. 1981;79(1):127–8. Available from: http://dx.doi.org/10.1378/chest.79.1.127b

17. Griffiths S, Lane S. Cervical disc prolapse in childhood associated with Klippel-Feil syndrome. 2001;69–70.

18. Franzen D, Schulte B, Beyer D, Neidel J, Vivie R De. Klippel – Feil syndrome associated with aortic coarctation. 2003;12:115–7.

19. Agarwal AK, Goel M, Bajpai J, Shukla S, Sachdeva N. Klippel Feil Syndrome : A Rare Case Report. 2014;4(3):53–5.

20. Mcgaughran JM, Kuna P, Das V, Royal M. Audiological abnormalities in the Klippel-Feil syndrome. 1998;352–5.

21. Guadalupe Treviño-Alanís M, Salazar-Marioni S, Martínez-Menchaca H, Rivera-Silva G. ARCHIVOS DE MEDICINA Síndrome de Klippel-Feil: Reporte de un caso. Arch Med. 2011;7(5):5–7.

22. Medjuly AE. Klippel-Feil Syndrome. 1992;(July):876–9.

23. Nouri A, Patel K, Evans H, Saleh M, Kotter MRN, Heary RF, et al. Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. Eur Spine J [Internet]. 2019;28(10):2257–65. Available from: https://doi.org/10.1007/s00586-019-06084-0

24. Shimada R, Masu T, Hanamizu H, Aiba S, Okuyama R. Infantile erosive pustular dermatosis of the scalp associated with klippel-feil syndrome. Acta Derm Venereol. 2010;90(2):200–1.

25. Tubbs RS, Smyth MD, Wellons JC, Blount JP, Oakes WJ. Cutaneous manifestations and the Chiari I malformation. Pediatr Neurol. 2003;29(3):250–2.

26. Castanet J. What is the behavior macules? of melanocytes in vitiligo.

27. Alkhateeb A, Fain PR, Thody A, Bennett DC, Spritz RA. Epidemiology of Vitiligo and Associated Autoimmune Diseases in Caucasian Probands and Their Families. 2003;208–14.

28. CUNLIFFE WJ, HALL R, NEWELL DJ, STEVENSON CJ. Vitiligo, Thyroid Disease and Autoimmunity. Br J Dermatol. 1968;80(3):135–9.

29. Rashighi M, Harris JE. Vitiligo Pathogenesis and Emerging Treatments. Dermatol Clin [Internet]. 2017;35(2):257–65. Available from: http://dx.doi.org/10.1016/j.det.2016.11.014

30. Kroon MW, Vrijman C, Chandeck C, Wind BS, Wolkerstorfer A, Luiten RM, et al. High prevalence of autoimmune thyroiditis in children and adolescents with vitiligo. Horm Res Paediatr. 2013;79(3):137–44.

31. Spritz RA. Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease. Thyroid. 2010;20(7):745–54.

32. Lotti T, D’Erme AM. Vitiligo as a systemic disease. Clin Dermatol [Internet]. 2014;32(3):430–4. Available from: http://dx.doi.org/10.1016/j.clindermatol.2013.11.011

33. Spritz RA. Recent progress in the genetics of generalized vitiligo. J Genet Genomics [Internet]. 2011;38(7):271–8. Available from: http://dx.doi.org/10.1016/j.jgg.2011.05.005

34. Woalder. 乳?? 心肌提取 HHS Public Access. Physiol Behav. 2017;176(1):139–48.

35. Czajkowski R, Męcińska-jundziłł K. Current aspects of vitiligo genetics. 2014;85–94.

36. Patel S, Rauf A, Khan H, Meher BR, Hassan SS ul. A holistic review on the autoimmune disease vitiligo with emphasis on the causal factors. Biomed Pharmacother [Internet]. 2017;92:501–8. Available from: http://dx.doi.org/10.1016/j.biopha.2017.05.095

37. Rodrigues M, Ezzedine K, Hamzavi I, Pandya AG, Harris JE. New discoveries in the pathogenesis and classification of vitiligo. J Am Acad Dermatol [Internet]. 2017;77(1):1–13. Available from: http://dx.doi.org/10.1016/j.jaad.2016.10.048

38. Strassner JP, Harris JE. ScienceDirect Understanding mechanisms of autoimmunity through translational research in vitiligo. Curr Opin Immunol [Internet]. 2016;43(Figure 1):81–8. Available from: http://dx.doi.org/10.1016/j.coi.2016.09.008

39. Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, et al. Genome-Wide Analysis Identifies a Quantitative Trait Locus in the MHC Class II Region Associated with Generalized Vitiligo Age of Onset. 2011;131:1308–13.

40. Riccardi SL, Laberge G, Bennett DC, Ph D, Fain PR, Ph D, et al. in Vitiligo-Associated Multiple Autoimmune Disease. 2007;

41. Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: Clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;(424):183–90.

42. Sawicki J, Siddha S, Rosen C. Vitiligo and associated autoimmune disease: Retrospective review of 300 patients. J Cutan Med Surg. 2012;16(4):261–6.

Downloads

Published

2022-10-05

How to Cite

1.
Guerrero Oliva G, Trejo-Ortega X, Morales Sánchez MA, Santa Cruz FJ, Peralta Pedrero ML. Klippel-Feil syndrome and vitíligo. Clinical presentation of two diseases. revgencom [Internet]. 2022 Oct. 5 [cited 2025 Sep. 6];14(1). Available from: https://revgenetica.sld.cu/index.php/gen/article/view/133

Issue

Vol. 14 No. 1 (2022): ENERO - AGOSTO

Section

Presentaciones de casos

License

Aquellos autores/as que tengan publicaciones con esta revista, aceptan los términos siguientes:

  1. Los autores/as conservarán sus derechos de autor y garantizarán a la revista el derecho de primera publicación de su obra, el cuál estará simultáneamente sujeto a la Licencia de reconocimiento de Creative Commons que permite a terceros compartir la obra siempre que se indique su autor y su primera publicación esta revista.
  2. Los autores/as podrán adoptar otros acuerdos de licencia no exclusiva de distribución de la versión de la obra publicada (p. ej.: depositarla en un archivo telemático institucional o publicarla en un volumen monográfico) siempre que se indique la publicación inicial en esta revista.
  3. Se permite y recomienda a los autores/as difundir su obra a través de Internet (p. ej.: en archivos telemáticos institucionales o en su página web) antes y durante el proceso de envío, lo cual puede producir intercambios interesantes y aumentar las citas de la obra publicada. (Véase El efecto del acceso abierto).