Blog - INTERNET MÉDICA

Síndrome de Costello Online (Costello syndrome)

Por Paulo Leite 31/05/2019

¨A síndrome de Costello (SC) é uma doença genética rara, descrita pela primeira em 1971, causada por mutações no proto-oncogene HRAS. Os achados clínicos incluem dismorfismo facial, distúrbios da pele, comprometimento cognitivo, defeitos cardíacos e musculoesqueléticos. Há um risco aumentado de malignidades nesses pacientes, especialmente rabdomiossarcoma, ganglioneuroblastoma e tumores de bexiga, devido à mutação proto-oncogênica, e também a morte súbita secundária a doenças cardíacas. A pesquisa da mutação por técnicas de biologia molecular é o padrão ouro para o diagnóstico da síndrome de Costello.¨

■ Age and ASD symptoms in Costello syndrome

Young O, Perati S, Weiss LA, Rauen KA.

Am J Med Genet A. 2018 Apr;176(4):1027-1028

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011828/

■ Costello syndrome: the challenge of hypoglycemia and failure to thrive

Leoni C, Flex E.

EBioMedicine. 2018 Jan;27:5-6

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828550/

■ Cytotoxicity of zardaverine in embryonal rhabdomyosarcoma from a Costello syndrome patient

Cartledge DM, Robbins KM, Drake KM, et al

Front Oncol. 2017 Apr 3;7:42

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376947/

■ Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome

Schwartz DD, Katzenstein JM, Highley EJ et a

Am J Med Genet A. 2017 May;173(5):1294-1300

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397350/

■ Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

Bertola D, Buscarilli M, Stabley DL, Baker L, et al

Am J Med Genet A. 2017 May;173(5):1309-1318

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397353/

■ Costello syndrome and umbilical ligament rhabdomyosarcoma in two pediatric patients: case reports and review of the literature

Sánchez-Montenegro C, Vilanova-Sánchez A, Barrena-Delfa S, et al

Case Rep Genet. 2017;2017:1587610

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288506/

■ The splicing efficiency of activating HRAS mutations can determine Costello syndrome phenotype and frequency in cancer

Hartung AM, Swensen J, Uriz IE, et al

PLoS Genet. 2016 May 19;12(5):e1006039

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873146/

■ Anaesthetic management in Costello syndrome

Akçıl EF, Dilmen ÖK, Tunalı Y

Turk J Anaesthesiol Reanim. 2015 Dec;43(6):427-30

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894188/

■ Respiratory system involvement in Costello syndrome

Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, Bernstein JA, Hudgins L.

Am J Med Genet A. 2016 Jul;170(7):1849-57

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509842/

■ Síndrome de Costello: relato de caso e revisão da abordagem diagnóstica

A P R Pereira, S T F Grunewald

Residência Pediátrica 2016, vol 6 (3)

http://residenciapediatrica.com.br/detalhes/247/sindrome-de-costello–relato-de-caso-e-revisao-da-abordagem-diagnostica

■ Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of hererozygosity in Costello syndrome driving clonal expansion

Karen W. Gripp, Katherine M. Robbins, Brandon S. Sheffield et a

Am J Med Genet A. 2016 Mar; 170(3): 559–56

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784973/

■ Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation

Blachowska E, Petriczko E, Horodnicka-Józwa A et al

Ital J Pediatr. 2016 Jan 26;42:10

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729164/

■ Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndrome

Uemura R, Tachibana D, Kurihara Y et al

Ultrasound Obstet Gynecol. 2016 Dec;48(6):799-80

https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.15888

■ Human iPS cell-derived neurons uncover the impact of increased Ras signaling in Costello syndrome

Rooney GE, Goodwin AF, Depeille P et al

J Neurosci. 2016 Jan 6;36(1):142-52

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701956/

■ Costello syndrome: analysis of the porterior cranial fossa in children with posterior fossa crowding

Calandrelli R, D’Apolito G, Marco P, Zampino G, Tartaglione T, Colosimo C.

Neuroradiol J. 2015 Jun;28(3):254-8

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757298/

■ The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model

García-Cruz R, Camats M, Calin GA, et al

BMC Med Genet. 2015 Jul 3;16:46

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631104/

■ Na attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G> (p.Gly60Asp) mutation correlates with uncommon functional consequences

Gripp KW, Sol-Church K, Smpokou P et al

Am J Med Genet A. 2015 Sep;167A(9):2085-9

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830354/

■ Costello syndrome with severe nodulocystic acne: unexpected significant improvement of achathosis nigricans after oral isotretinoin treatment

Sriboonnark L, Arora H, Falto-Aizpurua L et a

Case Rep Pediatr. 2015;2015:934865

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359863/

■ Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Kratz CP, Franke L, Peters H, Kohlschmidt N, et al

Br J Cancer. 2015 Apr 14;112(8):1392-7

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402457/

■ Cardiac events in Costello syndrome: one case and a review of the literature

Hakim K, Boussaada R, Hamdi I, Msaad H.

J Saudi Heart Assoc. 2014 Apr;26(2):105-9

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978860/

■ Craniofacial and dental development in Costello syndrome

Goodwin AF, Oberoi S, Landan M et al

Am J Med Genet A. 2014 Jun;164A(6):1425-30

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115793/

■ Syndrome in question. Costelo syndrome

Peixoto IL, Carreno AM, Prazeres VM, Chirano CA, Ihara GM, Akel PB.

An Bras Dermatol. 2014 Nov-Dec;89(6):1005-6

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230678/

■ Early-lethal syndrome due to rare HRAS Tanden Base susbstitution (c.35_36C>AA;p.G12E)-associated pulmonary vascular disease

Weaver KN, Wang D, Cnota J, et al

Pediatr Dev Pathol. 2014 Nov-Dec;17(6):421-3

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294968/

■ Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome

Wey M, Lee J, Jeong SS, Kim J, Heo J.

Biochemistry. 2013 Nov 26;52(47):8465-79.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918454/

■ C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome

Michael Klüppel, Payman Samavarchi-Tehrani, Kela Liu et al

Eur J Hum Genet. 2012 Aug; 20(8): 870–877

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400726/

■ Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

Angela E. Lin, Barbara O’Brien, Laurie A. Demmer et al

Prenat Diagn. 2009 Jul; 29(7): 682–69

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293073/

■ Dr Paulo Fernando Leite

Cardiologia/Prevenção Cardiovascular

Estratificação de Risco Cardiovascular

Novo endereço:

Consultório: Rua Padre Rolim 815/sala 815

Tel: 33245518 (Consulta Particular/Unimed)

– Centro Médico Unimed BH/Contagem/Pedro I

Belo Horizonte/MG/Brasil

CRMMG: 7026

Email: pfleite1873@gmail.com

Síndrome de Rothmund-Thomson Online (Rothmund-Thomson Syndrome)

Por Paulo Leite 31/05/2019

¨A síndrome de Rothmund (poiquilodermia congênita) – ou síndrome de Rothmund-Thomson é uma doença de herança autossômica recessiva, que se inicia na infância com a presença de eritema facial (poiquilodermia) associado a anormalidades ósseas, baixa estatura, alterações do rádio, alopecia, ausência de cílios e sobrancelhas, carata juvenil e predisposição a neoplasias. Há duas formas clínicas da doença. O tipo 1 é caracterizado por poiquilodermia, displasia ectodermal e catarata juvenil, enquanto o tipo 2 apresenta poiquilodermia, defeitos congênitos ósseos, grande risco de osteossarcoma na infância e de câncer de pele na idade adulta. O principal marco clínico da síndrome é o eritema cutâneo, que normalmente aparece entre seis meses e três anos de idade e costuma acometer inicialmente as bochechas, estendendo-se até as extremidades, acometendo nádegas e superfícies extensoras e flexoras dos membros. Tronco e abdome costumam ser poupados. O paciente costuma ter cabelo fino e esparso, e ausência de cílios e sobrancelhas. O retardo de crescimento é o segundo sinal mais importante da síndrome. Alterações esqueléticas podem ocorrer, assim como catarata juvenil em até 50% dos pacientes. Os principais tumores aos quais estes pacientes estão predispostos são o osteossarcoma (infância e adolescência) e o carcinoma espinocelular em adultos. Os sintomas visuais são considerados sinais menores para o diagnóstico, embora a catarata juvenil possa estar presente em até 50 % dos pacientes. A paciente deve ser seguida por uma equipe médica multidisciplinar devido as alterações sistêmicas descritas e o risco de desenvolvimento de neoplasias.¨

■ Chromosome alignment maintenance requires the MAP RECQL4 mutated in the Rothmund-Thomson syndrome

Hideki Yokoyama, Daniel Moreno-Andres, Susanne A Astrinidis et al

Life Sci Alliance. 2019 Feb; 2(1): e201800120

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362308/

■ Rothmund-Thomson syndrome: insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome

Elisa A. Colombo, Andrea Locatelli, Laura Cubells Sánchez et al

Int J Mol Sci. 2018 Apr; 19(4): 1103

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979380/

■ Gastrointestinal malignancy presenting with a Virchow´s node in a patient with Rothmund-Rhomson syndrome

Kara Nadeau, Michele Brule

Case Rep Genet. 2018; 2018: 7536832

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222232/

■ Generalized metabolic bone disease and frature risk in Rothmund-Thomson syndrome

Felicia Cao, Linchao Lu, Steven A. Abrams et al

Hum Mol Genet. 2017 Aug 15; 26(16): 3046–3055

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886079/

■ Rothmun-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome

C. van Rij, M. L. Grijsen, N. M. Appelman-Dijkstra, K. B. M. Hansson et al

Eur J Pediatr. 2017; 176(2): 279–283.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243887/

■ Ophthalmic manifestations in Rothmund-Thomson syndrome: case report review of literature

J T Chinmayee, G R Meghana, R K Prathiba, T K Ramesh

Indian J Ophthalmol. 2017 Oct; 65(10): 1025–1027

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678305/

■ Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings

Ji Young Yang, Young Bae Sohn, Jin-Sung Lee, Ja-Hyun Jang, Eun-So Lee

JAAD Case Rep. 2017 May; 3(3): 172–174

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394190/

■ Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome

Katharina Morant Holanda De Oliveira, Raquel Assed Bezerra Silva, Fabricio Kitazono Carvalho et al

Contemp Clin Dent. 2016 Apr-Jun; 7(2): 240–242

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906872/

■ Síndrome de Rothmund

Martins, Thiago Gonçalves dos Santos, Costa, Ana Luiza Fontes de Azevedo and Martins, Thomaz Gonçalves dos Santos

Rev. bras.oftalmol., Dez 2015, vol.74, no.6, p.390-392

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000600390&lng=en&nrm=iso

■ Dental management of Rothmund-Thomson syndrome with partial anodontia

Nilesh Vithaldas Rathi, Mayur Shrigopal Bhattad, Nilima Thosar, Sudhindra Baliga

BMJ Case Rep. 2015; 2015: bcr2015209994

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4460316/

■ Multiple low energy long bone fractures in the setting of Rothmund-Thomson syndrome

Nicholas Beckmann

Case Rep Med. 2015; 2015: 495164

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4651706/

■ Later ulcer in a patient with Rothmund-Thomson syndrome

Sinem Ciloglu, Alpay Duran, Sirin Yasar Pekcan, Hasan Buyukdogan

Springerplus. 2015; 4: 572

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627962/

■ The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis

Monique F. Smeets, Elisabetta DeLuca, Meaghan Wall et al

J Clin Invest. 2014 Aug 1; 124(8): 3551–3565

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109528/

■ Rothmund-Thomson syndrome: a 13-year follow-up

Guillermo Antonio Guerrero-González, Sylvia Aideé Martínez-Cabriales, Aideé Alejandra Hernández-Juárez et al

Case Rep Dermatol. 2014 May-Aug; 6(2): 176–179

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4127543/

■ Oral findings of Rothmund-Thomson syndrome

Emin Murat Canger, Peruze Çelenk, İnci Devrim, Aysun Avşar

Case Rep Dent. 2013; 2013: 93571

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3864084/

■ Clinical utility gene card for: Torhmund-Thomson syndrome

Lidia Larizza, Gaia Roversi, Alain Verloes

Eur J Hum Genet. 2013 Jul; 21(7)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722954/

■ Oral findings of Rothmund-Thomson syndrome

E M Canger, P Çelenk, I Devrim, A Avsar

Case Reports in Dentistry 2013, Article ID 935716, 4 pages

https://www.hindawi.com/journals/crid/2013/935716/

■ Rothmund-Thomson syndrome

L Larizza, G Roversi, L Volpi

Orphanet J Rare Dis 2010, vol 5: 2

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2826297/

■ Você conhece esta síndrome?

S A Marques, F P Pereira, H O Stolf

An Bras Dermatol 2008,vol 83 (5)

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962008000500014