Ictiosis sindrómicas / Syndromic ichthyosis
Dermatol. argent
; 22(1): 19-26, 2016. ilus, tab
Article
in Es
| LILACS
| ID: biblio-859118
Responsible library:
AR144.1
RESUMEN
Las ictiosis hereditarias son un grupo de desórdenes mendelianos, con manifestaciones clínicas y alteraciones genéticas heterogéneas caracterizadas por la presencia de escamas y/o hiperqueratosis. Las ictiosis sindrómicas son aquellas en las que el defecto genético se manifiesta en la piel y también en otros órganos. Presentamos 7 pacientes con ictiosis sindrómicas un síndrome IFAP (ictiosis folicular, atriquia, fotofobia), un síndrome de Conradi-Hünermann-Happle (CHH), dos síndromes de Netherton (SN), dos síndromes de Sjögren-Larsson (SSL) y un síndrome KID (queratitis, ictiosis, sordera). Se analizan las características clínicas y diagnósticas de nuestros pacientes (AU)
ABSTRACT
Inherited ichthyosis are a group of clinical and genetic heterogeneous disorders characterized by the presence of scales, hyperkeratosis or both. In syndromic ichthyosis, the genetic defect involves the skin and other organs. We present 7 patients with syndromic ichthyosis a case of IFAP syndrome (ichthyosis follicularis with alopecia and photophobia), a case of Conradi-Hünermann-Happle (CHH) syndrome, two cases of Netherton syndrome, two cases of Sjögren-Larsson syndrome and a case of KID syndrome (keratitis, ichthyosis and deafness). We analyze the diagnostic and clinical features of our patients (AU)
Full text:
1
Collection:
01-internacional
Database:
LILACS
Main subject:
Ichthyosis
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
Es
Journal:
Dermatol. argent
Journal subject:
DERMATOLOGIA
Year:
2016
Document type:
Article
Affiliation country:
Argentina
/
United States
Country of publication:
Argentina