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Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease

Silva, Diana Silveira; Almeida, Izabela; Netto, Camila F; Esporcatte, Bruno L B; Rolim-de-Moura, Christiane.
Arq. bras. oftalmol; 81 (6), 2018
ABSTRACT Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of chi...
Eritema/diagnóstico, Anomalías del Ojo/diagnóstico, Anomalías del Ojo/cirugía, Glaucoma/diagnóstico, Glaucoma/cirugía, Presión Intraocular, Telangiectasia/diagnóstico, Trabeculectomía, Síndromes de Tricotiodistrofia/diagnóstico
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Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs

Pereira, Luciana Baptista; Valente, Neusa Yuriko Sakai; Rocha, Vanessa Barreto.
An. bras. dermatol; 93 (1), 2018
Abstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare ...
Anomalías Múltiples/diagnóstico, Ictiosis/complicaciones, Ictiosis/diagnóstico, Discapacidad Intelectual/complicaciones, Discapacidad Intelectual/diagnóstico, Trastornos por Fotosensibilidad/complicaciones, Síndromes de Tricotiodistrofia/complicaciones, Síndromes de Tricotiodistrofia/diagnóstico
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