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Ictiosis Laminar. Un caso familiar recurrente
(Seguro Social de Salud (EsSalud), 2023-02-17)
Introducción: Las ictiosis hereditarias pueden ser sindrómicas y no
sindrómicas, estas últimas, de acuerdo con la expresión fenotípica cutánea,
incluyen, ictiosis comunes, ictiosis recesiva ligada al cromosoma X, ...
Amnion nodosum and congenital ichthyosis
(American Society of Clinical Pathologists, 1977)
Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum
(Wiley Blackwell Publishing, Inc, 2021-03)
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). ...
Ictiosis arlequín, una genodermatosis devastadora
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2018-04-26)
Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma
(Blackwell Publishing, 2007-04-01)
Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment
(Conselho Brasileiro de Oftalmologia, 2011-02-01)
Ichthyosis follicular, alopecia, and photophobia (IFAP) syndrome is a rare disease, with possible X-linked mode of inheritance. The patient presented with ocular findings of photophobia, corneal scarring and erosions, ...
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis
Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and ...