Ichthyosis in Sjögren–Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion

Collodion skin in the neonate due to 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 ...