Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns. Although these disorders affect tissues of epidermal origin, there is little evidence regarding the oral and dental manifestations of Lamellar Ichthyosis. A case report of early childhood caries in lamellar ichthyosis is presente...

Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if int...

Harlequin ichthyosis is a rare congenital ichthyosis classified under the category of Autosomal Recessive Congenital Ichthyoses, which also include lamellar ichthyosis and congenital ichthyosiform erythroderma. It is caused by functional null mutations in the ABCA12 gene, a keratinocyte lipid transporter associated with lamellar granule formation. Patients have a classic clinical presentation a...

Severe vitamin D deficiency and rickets are highly prevalent among children with congenital ichthyosis. We report an incidental observation of a dramatic and excellent clinical response with regard to skin scaling and stiffness in children with congenital ichthyosis after short-term high-dose vitamin D supplementation that has not been previously described. Seven children with congenital ichthy...

In clinical practice, the pediatric dermatologist from time to time encounters patients who have ichthyosis. Patients with this rare disease need a precise diagnosis, good advice on how to manage their skin condition, and adequate genetic counseling. The old days, when ichthyosis was categorized into only 6 major types are long gone.1 A recent consensus conference revised the nomenclature and p...

BACKGROUND X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). CASE PRESENTATION We ...

THE word ichthyosis is derived from the Greek word Ichthys meaning a fish. Patients with ichthyosis exhibit prominent scales occurring more or less diffusely all over the body. Usually the scales are large and centrally adherent with loose edges. Ichthyosis is a disorder of keratinization. Ichthyosis forms a group of genodermatoses transmitted by autosomal dominant or, as recently shown by Well...

Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their family. Fifteen children aged 5-16 years with lamellar ichthyosis, Netherton's syndrome, epidermolytic hyperkeratosis or Harlequin ichthyosis, w...