Síndrome LEOPARD
Palabras clave:
enfermedades cutáneas genéticas, cardiomiopatía hipertrófica, síndrome LEOPARD
Resumen
El síndrome LEOPARD es una genodermatosis esporádica o autosómica dominante de gran penetrancia y expresividad variable, poco frecuente, con pocos casos reportados en la literatura científica.
Su nombre es un acrónimo que, por sus siglas en inglés, resume las principales características del síndrome: L, lentiginosis; E, alteraciones electrocardiográficas; O, hipertelorismo ocular; P, estenosis de la arteria pulmonar; A, anormalidades genitourinarias; R, retraso del crecimiento, y D (deafness), sordera neurosensorial.
Se presenta un caso que ilustra algunas de las manifestaciones clásicas del síndrome LEOPARD, y se resalta la importancia del estudio, abordaje y seguimiento multidisciplinario.
Citas
1. Kalev I, Muru K, Teek R, Zordania R, Reimand T, Köbas K, et al. LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: Two case reports and a review of the literature. Eur J Pediatr. 2010;169:469-73.
2. Martínez-Quintana E, Rodríguez-González F. LEOPARD syndrome: Clinical features and gene mutations. Mol Syndr. 2012;3:145-57.
3. Carcavilla A, Santomé JL, Pinto I, Sánchez-Pozo J, Guillén-Navarro E, Martín-Frías M, et al. LEOPARD Syndrome: A variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. Rev Esp Cardiol. 2013;66:350-6.
4. Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pr Res Endocrinol Metab. 2011;25:161-79.
5. Rodríguez-Bujaldón A, Vásquez-Brayo C, JiménezPuya R, Galán-Gutiérrez M. LEOPARD syndrome: What are café noir spots? Pediatr Dermatol. 2008;25:444-8.
6. Kato H, Yoshida R, Tsukamoto K, Suga H, Eto H, Higashino T, et al. Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). Int J Dermatol. 2010;49:1146-51.
7. Digilio M, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R. Leopard syndrome: Clinical diagnosis in the first year of life. Am J Med Genet A. 2006;140:740-6.
8. Treadwell P. Systemic conditions in children associated with pigmentary changes. Clini Dermatol. 2015;33:362-7.
9. Banuls J, Álvarez-Chinchilla PJ, Lucas A, Poveda I,Encabo-Durán B, Niveiro M, et al. Clinical, pathological and dermoscopic characteristics of cutaneous lesions in LEOPARD syndrome. J Eur Acad Dermatology Venereol. 2018;32:e100-1.
10. Koller VM, Giovanna PD, Otero M, García S, Cabrera H. Síndrome LEOPARD a propósito de la mancha café negro. Arch Agent Dermatol. 2009;59:53–7.
11. Jurko T, Jurko A, Krsiakova J, Jurko A, Minarik M, Mestanik M. Importance of cardiovascular examination in patients with multiple lentigines: Two cases of LEOPARD syndrome with hypertrophic cardiomyopathy. Acta Clin Belgica Int J Clin Lab Med.2018;3286:1-4.
12. Martínez-Quintana E, Rodríguez-González F. RASopathies: From Noonan to LEOPARD Syndrome. Rev Esp Cardiol. 2013;66:756-7.
13. González-Rodríguez A, Lorente-Gual R. Current indications and new applications of intense pulsed light. Actas Dermosifiliogr. 2015;106:350-64.
14. Kontoes PP, Vlachos SP, Marayiannis KV. Intense pulsed light for the treatment of lentigines in LEOPARD syndrome. Br J Plast Surg. 2003;56:607-10.
2. Martínez-Quintana E, Rodríguez-González F. LEOPARD syndrome: Clinical features and gene mutations. Mol Syndr. 2012;3:145-57.
3. Carcavilla A, Santomé JL, Pinto I, Sánchez-Pozo J, Guillén-Navarro E, Martín-Frías M, et al. LEOPARD Syndrome: A variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. Rev Esp Cardiol. 2013;66:350-6.
4. Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pr Res Endocrinol Metab. 2011;25:161-79.
5. Rodríguez-Bujaldón A, Vásquez-Brayo C, JiménezPuya R, Galán-Gutiérrez M. LEOPARD syndrome: What are café noir spots? Pediatr Dermatol. 2008;25:444-8.
6. Kato H, Yoshida R, Tsukamoto K, Suga H, Eto H, Higashino T, et al. Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). Int J Dermatol. 2010;49:1146-51.
7. Digilio M, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R. Leopard syndrome: Clinical diagnosis in the first year of life. Am J Med Genet A. 2006;140:740-6.
8. Treadwell P. Systemic conditions in children associated with pigmentary changes. Clini Dermatol. 2015;33:362-7.
9. Banuls J, Álvarez-Chinchilla PJ, Lucas A, Poveda I,Encabo-Durán B, Niveiro M, et al. Clinical, pathological and dermoscopic characteristics of cutaneous lesions in LEOPARD syndrome. J Eur Acad Dermatology Venereol. 2018;32:e100-1.
10. Koller VM, Giovanna PD, Otero M, García S, Cabrera H. Síndrome LEOPARD a propósito de la mancha café negro. Arch Agent Dermatol. 2009;59:53–7.
11. Jurko T, Jurko A, Krsiakova J, Jurko A, Minarik M, Mestanik M. Importance of cardiovascular examination in patients with multiple lentigines: Two cases of LEOPARD syndrome with hypertrophic cardiomyopathy. Acta Clin Belgica Int J Clin Lab Med.2018;3286:1-4.
12. Martínez-Quintana E, Rodríguez-González F. RASopathies: From Noonan to LEOPARD Syndrome. Rev Esp Cardiol. 2013;66:756-7.
13. González-Rodríguez A, Lorente-Gual R. Current indications and new applications of intense pulsed light. Actas Dermosifiliogr. 2015;106:350-64.
14. Kontoes PP, Vlachos SP, Marayiannis KV. Intense pulsed light for the treatment of lentigines in LEOPARD syndrome. Br J Plast Surg. 2003;56:607-10.
Cómo citar
1.
Macías MA, Téllez AM, Ballén J, Hernández C. Síndrome LEOPARD. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 15 de noviembre de 2018 [citado 25 de febrero de 2020];26(3):198-02. Disponible en: https://revista.asocolderma.org.co/index.php/asocolderma/article/view/62
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