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January 1963

Lipoid Proteinosis

Author Affiliations

Joseph W. Burnett, M.D., Department of Dermatology, Massachusetts General Hospital, Boston 14, Mass.; Chief Resident in Dermatology, Massachusetts General Hospital (Dr. Burnett).; Intern, Children's Service, Massachusetts General Hospital (Dr. Marcy).

Am J Dis Child. 1963;105(1):81-84. doi:10.1001/archpedi.1963.02080040083012

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

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