Association of Dysphagia and Oral Involvement with Growth and Nutritional Status in Pediatric Lipoid Proteinosis: A Prospective Cross-Sectional Study

Background/Objectives: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by oral and lingual involvement, frequently accompanied by dysphagia and recurrent oral ulcers. The relationships between these clinical manifestations and nutritional status or growth have not been clearly established. This study evaluated nutritional, growth, and micronutrient statuses in pediatric patients with LP and investigated their associations with dysphagia, oral ulcer frequency, and a composite oral involvement score. Methods: This prospective, cross-sectional, single-center study enrolled 30 pediatric patients with LP. Anthropometric measurements, laboratory results, and clinical data regarding oral involvement and dysphagia were collected. A study-specific composite oral involvement score (range: 0–4) was calculated based on restricted mouth opening, restricted tongue movement, presence of a thick or woody tongue, and active oral ulcers. Results: Mean age was 8.44 ± 4.97 years; 66.7% were male, and all had parental consanguinity. Mean HFA and WFH/BMI z-scores were −1.44 ± 1.07 and −0.55 ± 1.28; stunting and wasting occurred in 26.7% and 6.7%. Active oral ulcers and dysphagia were present in 70.0% and 60.0%. Iron-deficiency anemia (33.3%) and vitamin D deficiency (16.7%) were the most common deficiencies. Patients with dysphagia had lower HFA z-scores (p < 0.001; Cohen’s d = 1.91), which remained significant after Holm correction. The association between dysphagia and stunting did not remain significant after correction, and no other associations were found with dysphagia, oral ulcer frequency, or the composite oral involvement score. Conclusions: Dysphagia was associated with lower HFA z-scores in pediatric LP, whereas oral ulcer frequency and composite oral involvement were not. These exploratory findings suggest that swallowing function should be assessed during follow-up; larger multicenter prospective studies with standardized swallowing assessments are needed.