Cutaneous findings and treatment responses of lipoid proteinosis patients.

OBJECTIVES

Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the accumulation of hyaline-like material in the skin, oral mucosa, larynx, and brain. This study aimed to evaluate the dermatological findings and treatment responses of patients diagnosed with LP.

METHODS

This retrospective study included 41 patients diagnosed with LP at our clinic between May 2018 and January 2023. The diagnosis of LP was established in 22 patients by detecting mutations in the ECM1 gene. In comparison, in 19 patients, it was based on typical clinical findings and histopathological examination of lesioned skin. Clinical and demographic data such as dermatological findings, treatments received, and responses to treatment were recorded from patient files.

RESULTS

All patients exhibited skin thickening and acneiform scars. The most commonly observed additional dermatological findings were moniliform blepharosis (60.9%), varioliform scars (29.2%), waxy papules and plaques (24.3%), and blisters with crusts (19.5%). Verrucous lesions, diffuse yellow plaques, and scarring alopecia were observed in adult patients, while hypopigmented lesions and blisters with crusts were seen in the pediatric age group. The most frequently used treatments were acitretin (14.6%) and systemic steroids (9.7%). No improvement in skin lesions was observed in patients treated with acitretin, whereas complete resolution of blisters with crusts was noted in patients treated with systemic steroids.

CONCLUSIONS

In addition to the existing literature on dermatological manifestations of LP, hypopigmented lesions and atrophoderma vermiculatum-like lesions can also be observed in these patients. We believe that short-term systemic steroid therapy for vesiculobullous lesions can be considered for treatment. We think prospective studies with more patients and requiring long-term follow-up are needed regarding the effectiveness of acitretin treatment.