Síndrome de Rothmund-Thomson tipo I: Comunicación de un caso en población colombiana y revisión de la literatura

A. M. Zarante; F. Suárez-Obando; J. C. Acosta

Síndrome de Rothmund-Thomson tipo I: Comunicación de un caso en población colombiana y revisión de la literatura

A. M. Zarante, F. Suárez-Obando, J. C. Acosta

Producción: Contribución a una revista › Artículo de revisión › revisión exhaustiva

Resumen

Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.

Título traducido de la contribución	Rothmund-Thomson type I syndrome: A case report in colombian poblation and review of the literature
Idioma original	Español
Publicación	Revista Argentina de Dermatologia
Volumen	94
N.º	4
Estado	Publicada - dic. 2013

Palabras clave

Congenital poikiloderma
Genodermatosis
RECQL4 helicase
Rothmund-Thomson syndrome

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title = "S{\'i}ndrome de Rothmund-Thomson tipo I: Comunicaci{\'o}n de un caso en poblaci{\'o}n colombiana y revisi{\'o}n de la literatura",

abstract = "Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.",

keywords = "Congenital poikiloderma, Genodermatosis, RECQL4 helicase, Rothmund-Thomson syndrome",

author = "Zarante, {A. M.} and F. Su{\'a}rez-Obando and Acosta, {J. C.}",

year = "2013",

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volume = "94",

journal = "Revista Argentina de Dermatologia",

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TY - JOUR

T1 - Síndrome de Rothmund-Thomson tipo I

T2 - Comunicación de un caso en población colombiana y revisión de la literatura

AU - Zarante, A. M.

AU - Suárez-Obando, F.

AU - Acosta, J. C.

PY - 2013/12

Y1 - 2013/12

N2 - Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.

AB - Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.

KW - Congenital poikiloderma

KW - Genodermatosis

KW - RECQL4 helicase

KW - Rothmund-Thomson syndrome

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M3 - Artículo de revisión

AN - SCOPUS:84892741978

SN - 0325-2787

VL - 94

JO - Revista Argentina de Dermatologia

JF - Revista Argentina de Dermatologia

IS - 4

ER -

Síndrome de Rothmund-Thomson tipo I: Comunicación de un caso en población colombiana y revisión de la literatura

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