Association Of Ichthyosis Research Articles

A practical approach to ichthyoses with systemic manifestations.

Inherited ichthyoses are rare disorders in terms of patient numbers, but abundant in terms of clinical-genetic subtypes. These disorders are often associated with severe systemic manifestations, in addition to significant medical, cosmetic and social problems. There are 17 subtypes of syndromic ichthyosis identified so far and most patients with these syndromes are living in countries with high consanguinity rates. Frequently, clinicians cannot make a definitive diagnosis and patients are not managed properly owing to the rarity and complexity of these disorders. These difficulties make this group of ichthyosis and the patients living with them 'orphan'. After skin and skin appendages, nervous system is the most frequently involved system in ichthyosis syndromes. Thus, association of ichthyosis with neurological symptoms provides an important clue for diagnosis. In this article, we aim to increase clinicians' comprehension of ichthyosis syndromes by providing a symptomatology-based approach based on this observation. Additionally, we provide a review of ichthyosis syndromes, with special emphasis on neurological symptoms, hoping to attract interest to this complicated field.

Ichthyosiform erythroderma with rickets: report of five cases

We describe five children with ichthyosis and rickets. The association of ichthyosis and rickets is very rare. Four children had lamellar ichthyosis and one child had nonbullous ichthyosiform erythroderma/psoriasis with atopy. All had biochemical and radiological evidence of rickets. Three had clinically evident rickets, of whom two had very severe skeletal deformities. Such a severe skeletal involvement due to rickets in association with ichthyosis is exceptionally rare. We suggest that children with severe ichthyosis, in particular those with pigmented skin, need to be evaluated for rickets, especially in developing countries where there is a background prevalence of vitamin D deficiency.

Blepharokeratoconjunctivitis in a patient with ichthyosis

A 30-year-old man with autosomal recessive ichthyosis had severe keratitis. Examination revealed decreased visual acuity, erythema, and drying of the eyelids with blepharitis, conjunctivitis, and keratinization of his corneas. There was no ectropion. The association of ichthyosis with blepharokeratoconjunctivitis and keratinization of the cornea has only rarely been described.