Congenital ichthyoses: European guidelines of care, part two

Abstract

Summary Ichthyosis is the term used to describe continual and widespread scaling of the skin. There are several genetic types which are present from birth and persist life‐long – the “congenital ichthyoses”. There is no agreed treatment ‐ different doctors use different approaches, so this group of experts from all over Europe worked together to develop guidelines. They reviewed the medical literature and met to discuss the evidence and to make recommendations. A separate paper (Part 1) covered treatments for the skin condition itself. This paper, Part 2, provides guidelines for managing complications of the congenital ichthyoses. Itch, pain and infections are common, particularly fungal infection, and cancers sometimes occur. Tight skin often prevents eyelids from shutting properly so the eye surface must be protected with lubricant; eyelid massage may help and retinoid medicine may soften tight skin but can dry the eyes further. Surgical options include injecting filler or grafting extra skin to the eyelid: if the patient's own ichthyotic skin is used the problem eventually recurs and mucous membrane from inside the mouth is a promising alternative. Hearing is commonly affected: blockage of ears by a build‐up of skin may be prevented by regular oil drops but syringing or suction may be necessary. In children, growth may be affected and vitamin D supplements are usually recommended. There are special considerations for newborn babies and those with complex ichthyotic disorders such as Netherton Syndrome, epidermolytic ichthyosis and Ichthyosis Prematurity Syndrome. These treatment guidelines should help to improve outcomes and quality of life for patients with congenital ichthyoses.

Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review

“…The first line therapy of HI is oral retinoids and should be started early as much as possible [11,12]. The use of incubators with 50-85% humidification, the skin care with emollients and advanced dressing for fissures, eyes care with artificial tears and the close monitoring of possible extracutaneous complications are strongly recommended [1,9,11,12]. In some patients the surgical debridement of the joints of the hands and feet is inevitable, to allow movement and to avoid finger/ toe's necrosis.…”

“…Concerning the drug therapy, acitretin at the dose of 0.5-1 mg/kg/day is the most used among different retinoids in neonates, thanks to less severe side effects compared to other compounds [13,14]. Retinoid administration may be discontinued by 6 months of age [11,12]. It is still unclear whether the use of oral synthetic derivatives of vitamin A in neonates is associated with bones demineralization and/or fractures, as suggested by some authors.…”

Case report: Interleukin-17 targeted biological therapy in netherton syndrome

“…According to the European Guidelines for the management of congenital ichthyosis, the treatment of NS involves use of topical emollients, keratolytics, glucocorticoids, calcineurin inhibitors, and calcipotriol. New therapeutic options involving narrowband ultraviolet B phototherapy, IVIG and anti TNF-α also appear to be effective as a treatment (3).…”