titoli, abstracts, parole chiave >>>
Eye changes in a patient with lamellar ichthyosis and toe pseudoainhum

Pinna, Antonio <1963- > and Ena, Pasquale and Carta, Francesco (2004) Eye changes in a patient with lamellar ichthyosis and toe pseudoainhum. Eye, Vol. 18 (4), p. 445-446. eISSN 1476-5454. Article.

Full text not available from this repository.

DOI: 10.1038/sj.eye.6700686


Autosomal recessive primary ichthyosis (ARPI) is a rare, genetically heterogeneous skin disease. Several loci of responsible genes have been identified, including 14q11, which controls transglutaminase-1 expression, and 2q33–35. Clinical, biochemical, and histological evidence exists separating ARPI into two distinct diseases: lamellar ichthyosis (LI; the severe phenotype) and congenital ichthyosiform erythroderma (CIE, the milder phenotype).
The estimated incidence is 1 : 200 000 to 300 000 live births. Affected babies are called ‘collodion babies,’ because they are embedded in an inelastic membrane that dries soon after birth. Within 2 weeks the collodion membrane spontaneously sheds and the skin develops plate-like scales covering the entire body. In LI the scales are dark, large, polygonal, and tightly adherent and give a typical lifelong disfiguring appearance. Histopathologically, there is marked hyperkeratosis and a prominent granular layer. LI is a retention disorder, with normal epidermal turnover. Pseudoainhum is an affection characterized by the appearance of a constricting band around a digit, which may lead to spontaneous amputation (dactylolysis). This lesion has been observed in vascular, neurological, and skin disorders. Pseudoainhum is very rarely found in patients with LI. We report herein the eye changes in a patient with LI and toe pseudoainhum.

Item Type:Article
ID Code:4828
Uncontrolled Keywords:Eye changes, lamellar ichthyosis, toe pseudoainhum
Subjects:Area 06 - Scienze mediche > MED/32 Audiologia
Area 06 - Scienze mediche > MED/30 Malattie apparato visivo
Divisions:001 Università di Sassari > 03 Istituti > Oftalmologia, Otorinolaringoiatria e Urologia
001 Università di Sassari > 03 Istituti > Dermatologia
Publisher:Nature Publishing Group
Deposited On:15 Nov 2010 14:33

I documenti depositati in UnissResearch sono protetti dalle leggi che regolano il diritto d'autore

Repository Staff Only: item control page