Summary
A 25-year-old female who suffered from longstanding incurable leg ulcers was found to have prolidase deficiency with iminodipeptiduria. On ultrastructural studies of autopsy specimens, the lamina densa of the epidermal basement membrane was found to show irregular splitting and the basement membranes of the dermal blood vessels were lamellated with interruptions. Lamellar changes and splitting of the basement membranes of the renal tubules, interstitial blood vessels and glomerular capillaries also occurred. These morphological abnormalities seem to be one of causes of the clinical symptomatology.
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Arata J, Umemura S, Yamamoto Y, Hagiyama M, Nohara N (1979) Prolidase deficiency, Its dermatological manifestations and some additional biochemical studies. Arch Dermatol 115:62–67
Buist NRM, Strandholm JJ, Bellinger JF, Kennaway NG (1972) Further studies on a patient with iminodipeptiduria: A probable case of prolidase deficiency. Metabolism 21:1113–1123
Charpentier C, Dagbovie K, Lemonnier A, Larregue M, Johnstone RAW (1981) Prolidase deficiency with iminodipeptiduria: Biochemical investigations and first results of attempted therapy. J Inher Metab Dis 4:77–78
Cohen AM, Hay ED (1971) Secretion of collagen by embryonic neuroepithelium at the time of spinal cord-somite interaction. Dev Biol 26:578–605
Der Kaloustian VM, Freij BJ, Kurban AK (1982) Prolidase deficiency: An inborn error of metabolism with major dermatological manifestations. Dermatologica 164:293–304
Goodman SI, Solomons CC, Muschenheim F, McIntyre CA, Miles B, O'Brien D (1968) A syndrome resembling lathyrism associated with iminodipeptiduria. Am J Med 45:152–159
Hirone T, Taniguchi S (1980) Basal lamina formation by epidelrmal cells in cell culture. In: Bernstein IA, Seiji M (eds) Biochemistry of normal and abnormal epidermal differentiation. University of Tokyo Press, Tokyo, pp 159–169
Isemura M, Hanyu T, Gejyo F, Nakazawa R, Igarashi R, Matsuo S, Ikeda K, Sato Y (1979) Prolidase deficiency with imidodipeptiduria. A familial case with and without clinical symptoms. Clin Chim Acta 93:401–407
Isemura M, Hanyu T, Ono T, Igarashi R, Sato Y, Gejyo F, Nakazawa R, Miyakawa T, Takagi T, Kuboki Y, Sasaki S (1981) Studies on prolidase deficiency with a possible defect in collagen metabolism. Tohoku J Exp Med 134:21–28
Jaffe EA, Minick CR, Adelman B, Becker CG, Nachman R (1976) Synthesis of basement membrane collagen by cultured human endothelial cells. J Exp Med 144:209–225
Jakson SH, Dennis AW, Greenberg M (1975) Iminodipeptiduria: a genetic defect in recycling collagen: a method for determining prolidase in erythrocytes. CMA 113:759–763
Martinez-Hernandez A, Nakane PK, Pierce GB (1974) lntracellular localization of basement membrane antigen in yolk sac cells. Am J Pathol 76:549–560
Ogata A, Tanaka S, Tomoda T, Murayama E, Endo F, Kikuchi I (1981) Autosomal recessive proldase deficiency: Three patients with recalcitrant leg ulcers. Arch Dermatol 117:689–694
Pedersen PS, Christensen E, Brandt NJ (1983) Prolidase deficiency. Acta Paediatr Scand 72:785–788
Powell GF, Rasco MA, Maniscalco RM (1974) A prolidase deficiency in man with iminopeptiduria. Metabolism 23:505–513
Powell GF, Kurosky A, Maniscalco RM (1977) Prolidase deficiency: Report of a second case with quantitation of the excessively excreted amino acids. J Pediatr 91:242–246
Royce PM, Danks DM (1982) Normal hydroxylation of proline in collagen synthesized by skin fibroblasts from a patient with prolidase deficiency. J Inher Metab Dis 5:111–113
Sheffield LJ, Schlesinger P, Faull K, Halpern BJ, Schier GM, Cotton RGH, Hammond J, Danks DM (1977) Iminopeptiduria, skin ulcerations, and edema in a boy with prolidase deficiency. J Pediatr 91:578–583
Wright JR, Calkins E, Humphrey RL (1977) Potassium permanganate reaction in amyloidosis. A histologic method to assist in differentiating forms of this disease. Lab Invest 36:274–281
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Sekiya, M., Ohnishi, Y. & Kimura, K. An autopsy case of prolidase deficiency. Vichows Archiv A Pathol Anat 406, 125–131 (1985). https://doi.org/10.1007/BF00710562
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DOI: https://doi.org/10.1007/BF00710562