INTRODUCTION

Lamellar ichthyosis (LI) is an inherited rare disorder characterized by generalized scaling presenting at birth and persisting throughout life. It presents at birth with a collodion membrane, later developing into large, brown scales across the skin. LI requires ongoing treatment and monitoring due to physical and psychosocial impacts. This study highlights siblings who showed substantial quality-of-life improvements with oral retinoid therapy.

OBJECTIVE

To present and discuss a detailed case summary, explore management options, and evaluate the treatment outcomes.

CASE SUMMARY

We report on a pair of siblings, a 24-year-old male and a 19-year-old female, who were born encased in a collodion membrane, and later presented with large, brown, plate-like scales all over the body. Skin changes were accompanied by intermittent heat intolerance and mild ectropion, which subsequently caused impaired quality of life while growing up. Histopathology results were consistent with lamellar ichthyosis. Both siblings responded well to oral Acitretin at 0.5 mglkglday, showing significant shedding of thick scales and a reduction of ectropion within the first two weeks of therapy.

CONCLUSION

Lamellar ichthyosis, a severe, lifelong disorder with psychosocial repercussions, requires long-standing, continual therapy. Maximizing treatment options with oral acitretin, addressing the psychosocial implications of the disease and getting patients actively involved in its management results in better treatment outcomes.

Human ; Male ; Female ; Young Adult: 19-24 Yrs Old ; Ichthyosis, Lamellar ; Acitretin