Lipoid proteinosis is a rare form of storage disease characterized by the deposition of an abnormal hyaline-like material primarily in the skin and mucous membranes. Approximately 100 cases have been recorded in the literature.2 At least one-third have been distributed across Europe and America.
The following case emphasizes the principal clinical and histologic features of this disease.
Report of a Case
A 2½-year-old white girl was admitted to the Children's Service of the Massachusetts General Hospital for evaluation of dysphonia, alopecia, and unusual skin lesions.The patient's mother noticed that the child had a high-pitched hoarse cry since early infancy. A barium swallow performed at an outside hospital at 1 year of age was interpreted as normal. Four months prior to admission, erythematous, pruritic, maculopapular cutaneous lesions appeared on the central region of the face. Within 2 months, welldemarcated, slightly infiltrated brown lesions with central ulceration developed on the