Track: Case Reports

Abstract:

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, marked by profound skin barrier dysfunction and life-threatening neonatal complications. We report a striking case of a premature neonate presenting at birth with classic features of HI, including thick plate-like hyperkeratosis with deep erythematous fissures, bilateral ectropion, eclabium, flattened nasal bridge, absence of eyebrows and eyelashes, distal limb edema with constrictive bands, claw-hand deformities, and dusky digits concerning for ischemia. Skin biopsy revealed hyperorthokeratosis with focal parakeratosis and mild perivascular inflammation. Genetic testing confirmed a homozygous ABCA12 p.Y811H mutation, alongside a heterozygous GLMN p.K53 variant of uncertain significance. Initial labs showed hypogammaglobulinemia and hypoalbuminemia, likely due to transepidermal protein loss and nutritional deficits. The patient was managed with early initiation of oral acitretin, aggressive skin care, antimicrobial prophylaxis, and nutritional support in a controlled environment. Over six weeks, the hyperkeratotic plates desquamated, revealing a milder ichthyosiform erythroderma. This case underscores the critical role of early histopathologic and genetic diagnosis in guiding prompt systemic retinoid therapy and highlights the necessity of multidisciplinary care in improving outcomes for infants with HI.

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Samuel Blount