Inherited epidermal differentiation disorders (EDD) in pediatric patients from a single Italian referral Center.
Giulia Pascolini
✦ AI-curated · Sources linked
Case in brief
A retrospective review at an Italian referral center described three children with congenital, clinically heterogeneous inherited epidermal differentiation disorders. Two had autosomal recessive congenital ichthyosis, with homozygous variants in NIPAL4 and TGM1, respectively. The third, a girl, had palmoplantar keratoderma and a homozygous SLURP1 c.82del (p.Cys28fs) variant, establishing Mal de Meleda. Molecular analysis supported prompt, accurate diagnoses and informed clinical management and treatment selection.
What made this case unusual
The series included a child with Mal de Meleda linked to a homozygous SLURP1 frameshift variant, alongside two children with genetically distinct forms of autosomal recessive congenital ichthyosis.
Diagnostic / clinical pearl
Congenital epidermal differentiation disorders can have heterogeneous or subtle pediatric features; molecular analysis can clarify the diagnosis and support treatment selection.
Why it matters
Additional pediatric case descriptions can help characterize the childhood phenotypic spectrum of these rare disorders and support their recognition by pediatricians.