Treatment of Harlequin Ichthyosis With Acitretin

Prenatal sonographic diagnosis of Harlequin ichthyosis

“…Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses, with an estimated prevalence of 1/300 000‐1/1 000 000 . The disease is caused by a mutation in the ABCA 12 gene located at the long arm of chromosome 2, which is involved in the transport of lipids in keratinocytes and, consequently, in the formation of the lipid barrier of the skin, affecting the upper epidermis .…”

“…2,3 The disease is caused by a mutation in the ABCA 12 gene located at the long arm of chromosome 2, which is involved in the transport of lipids in keratinocytes and, consequently, in the formation of the lipid barrier of the skin, affecting the upper epidermis. 2,4,5 The main phenotypic features include dry scaly fish-like skin, consisting of hyperkeratosis with deep erythematous fissures between thick yellowish armor-like plaques involving the entire body surface, the eversion of the superior and inferior eyelids (ectropion) and both lips (eclabium or fish mouth appearance), the absence of eyelashes and eyebrows, sparse hair, abnormal flattened ears and broadened flat nose, microcephaly, abnormally fixed limbs and fingers, and toes in rigid flexion (mitten-like hands) due to the inability of the skin to expand. 3 Even with intensive care (including treatment with Acretin), prognosis is poor and most neonates die shortly after delivery due to infection, heat loss, dehydration, electrolytic disturbances (eg, hypernatremia), or respiratory distress.…”

“…Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses, with an estimated prevalence of 1/300 000‐1/1 000 000 . The disease is caused by a mutation in the ABCA 12 gene located at the long arm of chromosome 2, which is involved in the transport of lipids in keratinocytes and, consequently, in the formation of the lipid barrier of the skin, affecting the upper epidermis . The main phenotypic features include dry scaly fish‐like skin, consisting of hyperkeratosis with deep erythematous fissures between thick yellowish armor‐like plaques involving the entire body surface, the eversion of the superior and inferior eyelids (ectropion) and both lips (eclabium or fish mouth appearance), the absence of eyelashes and eyebrows, sparse hair, abnormal flattened ears and broadened flat nose, microcephaly, abnormally fixed limbs and fingers, and toes in rigid flexion ( mitten‐like hands) due to the inability of the skin to expand .…”

Management of congenital ichthyoses: European guidelines of care, part one

“…As acitretin is light sensitive, capsules should be opened away from daylight or added to breast milk in a bottle protected by aluminium foil. The efficacy of acitretin in children is documented in a few small case series of various disorders of keratinization, essentially in LI, congenital ichthyosiform erythroderma or HI . It is recommended to reserve retinoids for those with a severe phenotype and functional impairment.…”

Clinical and molecular characterization and response to acitretin in three families with Sjögren‐Larsson syndrome

“…Acitretin is a retinoid that is used for treatment of children with psoriasis and other hyperkeratotic disorders . Several case reports, case series, and a few studies pointed out the safety and efficacy of acitretin in children with inherited ichthyosis syndromes, but still the use of acitretin in children with ichthyosis is subject to debate.…”