HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Probably not an independent clinical picture but a group of related diseases with or without parathormone resistance (pseudohypoparathyroidism).
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EtiopathogenesisThis section has been translated automatically.
Mostly autosomal dominant inherited. Recessive inheritance and non-hereditary forms are also known. A genetic defect on chromosome 20q13 (GNASI), a parathyroid hormone receptor of the successful organs, has been proven. Occasionally other hormone receptors are also affected.
Clinical featuresThis section has been translated automatically.
Multiple osteomas in skin and subcutaneous tissue. Pachydermia, brachydactyly (especially of the 4th and 5th finger, knckle-knuckle-dimple-dimple sign), dwarfism, obesity, oligophrenia, calcification of the basal ganglia and multiple skeletal anomalies. Association with hypothyroidism and hypogonadism. Tendency to hypocalcemic tetany.
LaboratoryThis section has been translated automatically.
TherapyThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Albright F, Burnett CH, Smith PH, Parson W (1942) Pseudo-hypoparathyroidism: an example of "Seabright-Bantam syndrome Endocrinology (Baltimore) 30: 922-932
- Albright F, Forbes AP, Henneman PH (1952) Pseudopseudohypoparathyroidism. Transactions of the Association of American Physicians (Philadelphia) 65: 337-350
- Brokk CGD et al (1971) Osteoma cutis and Albright's hereditary osteodystrophy. Br J Derm 85: 471-475
Hugar D et al (2014) Albright hereditary osteodystrophy: a case report. J Clin Diagn Res 8:ZD28-30.
Ijaz MT et al (2003) A patient with pseudohypoparathyroidism. J Ark Med Soc 100: 164-166
Salemi P et al (2018) Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age
, Hormonal Status, and BMI. J Clin Endocrinol Metab 103:158-168.
- Schrallhammer K et al (1988) Primary osteoma cutis. Dermatologist 39: 509-513
Incoming links (9)Albright bantam syndrome; Albright osteodystrophy, hereditary; Cretinism, hypoparathyroidism; Hypocalcemia, chronic constitutional; Martin albright syndrome; Osteoma cutis; Pseudohypoparathyroidism; Pseudohypoparathyroidism, familial; Seabright-bantam syndrome;
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