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Albright's Hereditary Osteodystrophy With Cutaneous Bone Formation

Albright's Hereditary Osteodystrophy With Cutaneous Bone Formation Abstract Albright's hereditary osteodystrophy (AHO) refers to the syndromes of pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP). Both PHP and PPHP have the same phenotype, but PHP patients have hypocalcemia and fail to respond to parathyroid hormone. The PPHP patients have normal serum calcium values. Cases have been observed to change, over a period of time, from PHP to PPHP. This case of PHP demonstrates intracutaneous lamellar bone formation. The patient with AHO is short with shortened metacarpals and metatarsals, round facies, short broad nails, and soft tissue calcifications. They may also have cataracts, basal ganglia calcification, mental retardation, defective teeth, and multiple other skeletal abnormalities. There may also be tetany or muscle cramps. The mode of inheritance is unclear and may be sex-linked dominant. Differential diagnosis includes hypoparathyroidism, basal cell nevus syndrome, Gardner's syndrome, and sex-chromatinnegative Turner's syndrome. References 1. Albright F, Burnett CH, Smith CH, et al: Pseudo-hypoparathyroidism-example of "Seabright-bantam syndrome": Report of three cases . Endocrinology 30:922-932, 1942. 2. Albright F, Forbes AP, Henneman PH: Pseudo-pseudohypoparathyroidism . Trans Assoc Amer Physicians 65:337-350, 1952. 3. Cusmano JV, Baker JH, Finby N: Pseudohypoparathyroidism . Radiology 67:845-853, 1956.Crossref 4. Arnstein AR, Frame B, Frost HM: Albright's hereditary osteodystrophy . Ann Intern Med 64:996-1008, 1966.Crossref 5. Spranger J: Skeletal dysplasia: Albright's hereditary osteodystrophy , in Birth Defects: The First Conference . White Plains, NY, National Foundation March of Dimes, pp 122-128, 1968. 6. Mann JB, Alterman S, Hills AG: Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudopseudohypoparathyroidism . Ann Intern Med 56:315-342, 1962.Crossref 7. Bartter FC: Pseudohypoparathyroidism and pseudopseudohypoparathyroidism , in Stanbury JB, Wyngaarden JB, Fredrickson JB (eds): The Metabolic Basis of Inherited Disease , ed 11. New York, McGraw-Hill Book Co Inc, 1966. 8. Cohen MB, Donnel GN: Pseudohypoparathyroidism with hypothyroidism . J Pediat 56:369-382, 1960.Crossref 9. Nagant de Deuxchaisnes C, Isaac G, Jacquet A, et al: Etude clinique de physiopathogenique de la "dystrophie d'Albright" (pseudo-pseudohypoparathyroidisme) et de syndromes voisons: A propos de trois nouveaux cas, dont deux familiaux . Rev Franc Etud Clin Biol 5:153-186, 1960. 10. Bergstrand CG, Ekengren K, Fillpson R, et al: Pseudohypoparathyroidism, familial incidence and comparison with idiopathic hypoparathyroidism . Acta Endocr 29:201-218, 1958. 11. Elrich H, Albright F, Bartter FC, et al: Further studies on pseudohypoparathyroidism: Report of four new cases . Acta Endocr 5:199-225, 1950. 12. Smith DW: Recognizable Patterns of Human Malformation . Philadelphia, WB Saunders Co, 1970. 13. Steinbach HL, Young DA: The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH) . Amer J Roentgen 97:49-66, 1966.Crossref 14. Gellis SS, Feingold M: Atlas of Mental Retardation Syndrome . Washington, DC, US Dept of Health, Education and Welfare, 1969. 15. Heremans PR, Gorman CA, Martin WJ, et al: Pseudo-pseudohypoparathyroidism (Albright's hereditary osteodystrophy): A family study . Mayo Clin Proc 39:81-91, 1964. 16. Croft LK, Witkop CJ Jr, Glas J: Pseudohypoparathyroidism: A report of a case . Oral Surg 20:758-770, 1965.Crossref 17. Mackler H, Fouts JR, Birsner JW: Familial pseudohypoparathyroidism: A report of two cases . Calif Med 77:332-334, 1952. 18. Bishop PMF, de Mowbray RR: Pseudohypoparathyroidism . Proc Roy Soc Med 44:952-954, 1951. 19. Sunde OE, Hals E: Dental changes in a patient with hypoparathyroidism . Brit Dent J 111:112-117, 1961. 20. Travathan TH: Delayed eruption of teeth in pseudohypoparathyroidism . New Zeal Dent J 57:20-21, 1961. 21. Butterworth CE Jr, Hamilton LC, Zheutlin N: Pseudohypoparathyroidism . Amer J Med 21:644-648, 1966.Crossref 22. Selye H: Textbook of Endrocrinology . Montreal, University of Montreal Press, 1949, pp 570-572. 23. Kolb FO, Steinbach HL: Pseudohypoparathyroidism with secondary hyperparathyroidism and osteitis fibrosa . J Clin Endocr 22:59-70, 1962.Crossref 24. Singleton EB, Teng CT: Pseudohypoparathyroidism with bone changes simulating hyperparathyroidism . Radiology 78:388-393, 1962.Crossref 25. Rook A, Wilkinson DS, Ebling FJG: Textbook of Dermatology . Philadelphia, FA Davis Co, 1968. 26. Lee JB, Tashjian AH, Streets JM, et al: Familial pseudohypoparathyroidism . New Eng J Med 279:1179-1184, 1968.Crossref 27. Chase LR, Melson GL, Aurbach GD: Metabolic abnormality in pseudohypoparathyroidism: Defective renal excretion of cycline 3′, 5′-AMP in response to parathyroid hormone . J Clin Invest 47:18a, 1968. 28. Forbes AP: Donnees recentes sur le pseudohypoparathroidisme: I'insuffisance parathyroidienne et la tetanic chronique constitutionnelle . J Expans Scientif Franc 111:140, 1962. 29. Chase LR, Melson GL, Aurbach GD: Pseudohypoparathyroidism: Defective excretion of 3′, 5′-AMP in response to parathyroid hormone . J Clin Invest 48:1832-1844, 1969.Crossref 30. Galante L, Gudmondson TV, Mathews EW, et al: Thymic and parathyroid origin of calcitonin in man . Lancet 2:537-538, 1968.Crossref 31. Hirsh PF, Voelkel EF, Munson PL: Thyrocalcitonin: Hypocalcemic principle of the thyroid gland . Science 146:412-416, 1964.Crossref 32. Gittes RF, et al: Effect of hypocalcemia and hypercalcemia on the thyrocalcitonin content of the rat thyroid gland . Endocrinology 82:83-86, 1968.Crossref 33. Haymovits A, Rosen JF: Calcitonin: Its nature and role in man . Pediatrics 45:133-149, 1970. 34. Suh SM, Kooh SW, Chan AM, et al: Pseudohypoparathyroidism: No improvement following total thyroidectomy . J Clin Endocr 29:429-439, 1969.Crossref 35. Gudmondson TV, MacIntyre I, Soliman HA: The isolation of thyrocalcitonin and its effects in the rat . Proc Roy Soc 164:466-467, 1966. 36. Geominne C: Albright's hereditary poly-osteochrondroplasia (pseudo-pseudohypoparathyroidism) , in Proceedings of the 11th International Congress of Genetics . New York, Pergamon Press, 1963, vol 1. 37. Bronsky D, Kushner DS, Dubin A, et al: Idiopathic hypoparathyroidism and pseudohypoparathyroidism: Case report and review of the literature . Medicine 37:317-352, 1958.Crossref 38. Witkop CJ: Gardner's syndrome and other osteognathodermal disorders with defects in parathyroid functions . J Oral Surg 26:639-642, 1968.Crossref 39. Garlin RJ, Goltz RW: Multiple nevoid basal-cell epithelioma, jaw cysts and bifid ribs: A syndrome . New Eng J Med 262:908-912, 1960.Crossref 40. Garlin RJ, et al: The multiple basal-cell nevi syndrome: an analysis of a syndrome consisting of multiple nevoid basal-cell carcinoma, jaw cysts, skeletal anomalies, medulloblastoma and hyporesponsiveness to parathormone . Cancer 18:89-194, 1965.Crossref 41. Engel E, Haenni A, Ducommon P: Agenesie ovarienne et pseudohypoparathyroidisme sans hypo-calcemie . Schweiz Med Wschr 86:1260, 1956. 42. Miller JG: Gonadal dysgenesis and brachymetacarpal dwarfism (pseudopseudohypoparathyroidism) . Arch Intern Med 116:940-943, 1965.Crossref 43. Schwarz G, Walter K: Chromosomal analysis in gonadal dysgenesis with pseudopseudohypoparathyroidism . Lancet 1:1075, 1962.Crossref 44. Nichols FL, Holdsworth DE, Reinfranck RF: Familial hypocalcemia, latent tetany and calcification of the basal ganglia: Report of a kindred . Amer J Med 30:518-528, 1961.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Albright's Hereditary Osteodystrophy With Cutaneous Bone Formation

Archives of Dermatology , Volume 104 (6) – Dec 1, 1971

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American Medical Association
Copyright
Copyright © 1971 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1971.04000240058008
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Abstract

Abstract Albright's hereditary osteodystrophy (AHO) refers to the syndromes of pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP). Both PHP and PPHP have the same phenotype, but PHP patients have hypocalcemia and fail to respond to parathyroid hormone. The PPHP patients have normal serum calcium values. Cases have been observed to change, over a period of time, from PHP to PPHP. This case of PHP demonstrates intracutaneous lamellar bone formation. The patient with AHO is short with shortened metacarpals and metatarsals, round facies, short broad nails, and soft tissue calcifications. They may also have cataracts, basal ganglia calcification, mental retardation, defective teeth, and multiple other skeletal abnormalities. There may also be tetany or muscle cramps. The mode of inheritance is unclear and may be sex-linked dominant. Differential diagnosis includes hypoparathyroidism, basal cell nevus syndrome, Gardner's syndrome, and sex-chromatinnegative Turner's syndrome. References 1. Albright F, Burnett CH, Smith CH, et al: Pseudo-hypoparathyroidism-example of "Seabright-bantam syndrome": Report of three cases . Endocrinology 30:922-932, 1942. 2. Albright F, Forbes AP, Henneman PH: Pseudo-pseudohypoparathyroidism . Trans Assoc Amer Physicians 65:337-350, 1952. 3. Cusmano JV, Baker JH, Finby N: Pseudohypoparathyroidism . Radiology 67:845-853, 1956.Crossref 4. Arnstein AR, Frame B, Frost HM: Albright's hereditary osteodystrophy . Ann Intern Med 64:996-1008, 1966.Crossref 5. Spranger J: Skeletal dysplasia: Albright's hereditary osteodystrophy , in Birth Defects: The First Conference . White Plains, NY, National Foundation March of Dimes, pp 122-128, 1968. 6. Mann JB, Alterman S, Hills AG: Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudopseudohypoparathyroidism . Ann Intern Med 56:315-342, 1962.Crossref 7. Bartter FC: Pseudohypoparathyroidism and pseudopseudohypoparathyroidism , in Stanbury JB, Wyngaarden JB, Fredrickson JB (eds): The Metabolic Basis of Inherited Disease , ed 11. New York, McGraw-Hill Book Co Inc, 1966. 8. Cohen MB, Donnel GN: Pseudohypoparathyroidism with hypothyroidism . J Pediat 56:369-382, 1960.Crossref 9. Nagant de Deuxchaisnes C, Isaac G, Jacquet A, et al: Etude clinique de physiopathogenique de la "dystrophie d'Albright" (pseudo-pseudohypoparathyroidisme) et de syndromes voisons: A propos de trois nouveaux cas, dont deux familiaux . Rev Franc Etud Clin Biol 5:153-186, 1960. 10. Bergstrand CG, Ekengren K, Fillpson R, et al: Pseudohypoparathyroidism, familial incidence and comparison with idiopathic hypoparathyroidism . Acta Endocr 29:201-218, 1958. 11. Elrich H, Albright F, Bartter FC, et al: Further studies on pseudohypoparathyroidism: Report of four new cases . Acta Endocr 5:199-225, 1950. 12. Smith DW: Recognizable Patterns of Human Malformation . Philadelphia, WB Saunders Co, 1970. 13. Steinbach HL, Young DA: The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH) . Amer J Roentgen 97:49-66, 1966.Crossref 14. Gellis SS, Feingold M: Atlas of Mental Retardation Syndrome . Washington, DC, US Dept of Health, Education and Welfare, 1969. 15. Heremans PR, Gorman CA, Martin WJ, et al: Pseudo-pseudohypoparathyroidism (Albright's hereditary osteodystrophy): A family study . Mayo Clin Proc 39:81-91, 1964. 16. Croft LK, Witkop CJ Jr, Glas J: Pseudohypoparathyroidism: A report of a case . Oral Surg 20:758-770, 1965.Crossref 17. Mackler H, Fouts JR, Birsner JW: Familial pseudohypoparathyroidism: A report of two cases . Calif Med 77:332-334, 1952. 18. Bishop PMF, de Mowbray RR: Pseudohypoparathyroidism . Proc Roy Soc Med 44:952-954, 1951. 19. Sunde OE, Hals E: Dental changes in a patient with hypoparathyroidism . Brit Dent J 111:112-117, 1961. 20. Travathan TH: Delayed eruption of teeth in pseudohypoparathyroidism . New Zeal Dent J 57:20-21, 1961. 21. Butterworth CE Jr, Hamilton LC, Zheutlin N: Pseudohypoparathyroidism . Amer J Med 21:644-648, 1966.Crossref 22. Selye H: Textbook of Endrocrinology . Montreal, University of Montreal Press, 1949, pp 570-572. 23. Kolb FO, Steinbach HL: Pseudohypoparathyroidism with secondary hyperparathyroidism and osteitis fibrosa . J Clin Endocr 22:59-70, 1962.Crossref 24. Singleton EB, Teng CT: Pseudohypoparathyroidism with bone changes simulating hyperparathyroidism . Radiology 78:388-393, 1962.Crossref 25. Rook A, Wilkinson DS, Ebling FJG: Textbook of Dermatology . Philadelphia, FA Davis Co, 1968. 26. Lee JB, Tashjian AH, Streets JM, et al: Familial pseudohypoparathyroidism . New Eng J Med 279:1179-1184, 1968.Crossref 27. Chase LR, Melson GL, Aurbach GD: Metabolic abnormality in pseudohypoparathyroidism: Defective renal excretion of cycline 3′, 5′-AMP in response to parathyroid hormone . J Clin Invest 47:18a, 1968. 28. Forbes AP: Donnees recentes sur le pseudohypoparathroidisme: I'insuffisance parathyroidienne et la tetanic chronique constitutionnelle . J Expans Scientif Franc 111:140, 1962. 29. Chase LR, Melson GL, Aurbach GD: Pseudohypoparathyroidism: Defective excretion of 3′, 5′-AMP in response to parathyroid hormone . J Clin Invest 48:1832-1844, 1969.Crossref 30. Galante L, Gudmondson TV, Mathews EW, et al: Thymic and parathyroid origin of calcitonin in man . Lancet 2:537-538, 1968.Crossref 31. Hirsh PF, Voelkel EF, Munson PL: Thyrocalcitonin: Hypocalcemic principle of the thyroid gland . Science 146:412-416, 1964.Crossref 32. Gittes RF, et al: Effect of hypocalcemia and hypercalcemia on the thyrocalcitonin content of the rat thyroid gland . Endocrinology 82:83-86, 1968.Crossref 33. Haymovits A, Rosen JF: Calcitonin: Its nature and role in man . Pediatrics 45:133-149, 1970. 34. Suh SM, Kooh SW, Chan AM, et al: Pseudohypoparathyroidism: No improvement following total thyroidectomy . J Clin Endocr 29:429-439, 1969.Crossref 35. Gudmondson TV, MacIntyre I, Soliman HA: The isolation of thyrocalcitonin and its effects in the rat . Proc Roy Soc 164:466-467, 1966. 36. Geominne C: Albright's hereditary poly-osteochrondroplasia (pseudo-pseudohypoparathyroidism) , in Proceedings of the 11th International Congress of Genetics . New York, Pergamon Press, 1963, vol 1. 37. Bronsky D, Kushner DS, Dubin A, et al: Idiopathic hypoparathyroidism and pseudohypoparathyroidism: Case report and review of the literature . Medicine 37:317-352, 1958.Crossref 38. Witkop CJ: Gardner's syndrome and other osteognathodermal disorders with defects in parathyroid functions . J Oral Surg 26:639-642, 1968.Crossref 39. Garlin RJ, Goltz RW: Multiple nevoid basal-cell epithelioma, jaw cysts and bifid ribs: A syndrome . New Eng J Med 262:908-912, 1960.Crossref 40. Garlin RJ, et al: The multiple basal-cell nevi syndrome: an analysis of a syndrome consisting of multiple nevoid basal-cell carcinoma, jaw cysts, skeletal anomalies, medulloblastoma and hyporesponsiveness to parathormone . Cancer 18:89-194, 1965.Crossref 41. Engel E, Haenni A, Ducommon P: Agenesie ovarienne et pseudohypoparathyroidisme sans hypo-calcemie . Schweiz Med Wschr 86:1260, 1956. 42. Miller JG: Gonadal dysgenesis and brachymetacarpal dwarfism (pseudopseudohypoparathyroidism) . Arch Intern Med 116:940-943, 1965.Crossref 43. Schwarz G, Walter K: Chromosomal analysis in gonadal dysgenesis with pseudopseudohypoparathyroidism . Lancet 1:1075, 1962.Crossref 44. Nichols FL, Holdsworth DE, Reinfranck RF: Familial hypocalcemia, latent tetany and calcification of the basal ganglia: Report of a kindred . Amer J Med 30:518-528, 1961.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Dec 1, 1971

References