A sibship is described in which at least two brothers suffer from a unique disorder characterised by ichthyosis, hepatosplenomegaly, and late onset cerebellar ataxia. The clinical features and investigations are described. No metabolic abnormality has been found so far.

Changes in the abundance and organization of lipid lamellae (LL) stratum corneum (SC) are proposed to underly barrier dysfunction conditions such as psoriasis, atopic dermatitis ichthyosis. However, there few reports on LL diseased SC. The current investigation tested hypothesis that is altered omega-O-acylceramide metabolism defects associated with congenital Pnpla1 Alox12b knockout mice were ...

The stratum corneum (SC) of the epidermis acts as a skin permeability barrier, and abnormalities in SC formation lead to several disorders. Lipids, especially epidermis-specific ceramide classes ?-O-acylceramides (acylceramides) protein-bound ceramides, are essential for barrier formation. Ceramide synthase 3 (CERS3) is involved synthesis acylceramides CERS3 mutations cause autosomal recessive ...

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 ...

Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis (HI), lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. Patients with these severe types of ichthyoses frequently show severe hyperkeratosis and scales over a large part of the body surface form birth and their quality of life is often severely affected. Recen...

Sjögren-Larsson syndrome (SLS) is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation, caused by a deficiency of fatty aldehyde dehydrogenase. The aim of this study was to examine all 34 Swedish patients with SLS, emphasizing skin symptoms, dermatological treatment, and neurological symptoms (evaluated in some cases for more than 25...