Two days prior to the family conference, FIRST hosted its first-ever scientific meeting of international experts in ichthyosis research at the Regal Sun Resort. The Frontiers in Ichthyosis Research meeting agenda combined reports of recent progress in a few cutting-edge areas of ichthyosis research and frank discussion about how to efficiently and effectively move research forward. To have this...

Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. ...

Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct populat...

Here, we report a case of a middle-aged woman presenting with severe, long-standing, hyperkeratotic plaques of the lower extremities unrelieved by over-the-counter medications. Initial history and clinical findings were suggestive of an inherited ichthyosis. Ichthyoses are genetic disorders characterized by dry scaly skin and altered skin-barrier function. A diagnosis of ichthyosis vulgaris was...

Harlequin ichthyosis (HI) is a very rare severe form of autosomal recessive congenital ichthyosis, usually associated with stillbirth and early neonatal death. A newborn girl with HI is described. She presented in a critical condition with severe universalis hyperkeratosis, diffuse scales and deep erythematous fissures. She received preventive systemic antibiotics and hygienic nursing with skin...

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological ph...

Ichthyosis uteri is an exceedingly rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. Originally described as an endometrial response to iatrogenically-introduced caustic substances, similar changes have since been described in association with a variety of inflammatory conditions of the endometrium. We describe herein a heretofore undes...