Genetic Heterogeneity in Lamellar Ichthyosis

Lamellar Ichthyosis with Rickets

Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas. Rickets is a condition in which there is ...

Ocular manifestations of congenital lamellar ichthyosis.

PURPOSE To describe the ophthalmic manifestations in a series of children with congenital lamellar ichthyosis. These cases presented with varying types of eyelid abnormality associated with the systemic disease. The clinical features and ophthalmic management were studied. METHODS The case histories of three children presenting to the oculoplastic clinic were reviewed. All were diagnosed with...

Vitamin D deficiency rickets with Lamellar ichthyosis.

Cross-linked envelopes in nail plate in lamellar ichthyosis.

BACKGROUND Corneocytes of the nail plate, like those of the stratum corneum, generate cornified envelopes (CEs) of cross-linked protein that can be visualized readily after removal of non-cross-linked protein by detergent extraction. Defective CE formation occurs in epidermal scale and hair in transglutaminase 1 (TGM1)-negative lamellar ichthyosis (LI) and has been proposed as a diagnostic aid ...

High plasma urea concentration in babies with lamellar ichthyosis.

Sir, Guiscafre et al have reported two cases of meningitis due to Haemophilus influenzae type b tesistant to ampicillin and chloramphenicol.' In their report they say 'since 1980 eight cases of meningitis. have been reported'. This is not true. In previous reports we have drawn attention to the explosive increase of multiply resistant strains of H. influenzae type b causing invasive and non-inv...