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Am J Med Genet A ; 130A(3): 303-6, 2004 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-15368484

RESUMEN

We report on an apparently previously undescribed neonatal diffuse congenital hyperkeratosis with spontaneous improvement. The child, born to consanguinous parents, presented at birth with a verrucous hyperkeratosis involving face, trunk, and limbs, but sparing palms and soles. No visceral or skeletal abnormality was associated and neurosensory status was normal. The skin condition improved dramatically during the first month of life. At age 7 years, the child was healthy with normal psychomotor development and growth. He had an abnormal curvature of nose, ulerythema ophryogenes, and large ears. The skin was moderately dry. This favorable clinical outcome led us to propose the term "regressive congenital hyperkeratosis" until further molecular characterization of this new phenotype.


Asunto(s)
Queratosis/patología , Piel/patología , Adulto , Niño , Preescolar , Consanguinidad , Femenino , Humanos , Lactante , Recién Nacido , Queratosis/congénito , Queratosis/genética , Masculino , Microscopía Electrónica , Linaje , Piel/ultraestructura , Cicatrización de Heridas
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