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...

BACKGROUND Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France. METHODS Capture - recapture method was used fo...

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...

ABCA12: adenosine triphosphate binding cassette A12 HI: harlequin ichthyosis NICU: neonatal intensive care unit INTRODUCTION Harlequin ichthyosis (HI) is a rare autosomal recessive congenital ichthyosis associated with mutations in the keratinocyte lipid transporter adenosine triphosphate binding cassette A12 (ABCA12), leading to disruption in lipid and protease transport into lamellar granules...

Keratitis-ichthyosis-deafness syndrome is a rare genodermatosis, which has recently been connected with mutations in the connexin-26 gene, GJB2. We present a 15-year-old boy with erythroderma, hyperkeratotic plaques and deafness. Sequencing analysis showed a heterozygous missense mutation D50N (148G>A) in GJB2. The boy has not yet manifested characteristic eye lesions but his case shows that ta...