Albright hereditary osteodystrophy Q78.1

Probably not an independent clinical picture. This term refers to a group of related, often autosomal-dominantly inherited diseases with or without parathyroid resistance (pseudohypoparathyroidism).

Mostly inherited in an autosomal dominant manner. Recessive inheritance and non-hereditary forms are also known. A gene defect on chromosome 20q13 (GNAS1), a parathyroid hormone receptor of the organs of success, has been proven. Occasionally, other hormone receptors are also affected.

Multiple osteomas in skin and subcutaneous tissue. Pachyderma, brachydactyly (especially of the 4th and 5th fingers, so-called knuckle-knuckle-dimple sign), short stature, obesity, oligophrenia, calcification of the basal ganglia and multiple skeletal anomalies. Association with hypothyroidism and hypogonadism. Tendency to hypocalcemic tetany.

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2. Albright F, Forbes AP, Henneman PH (1952) Pseudopseudohypoparathyroidism. Transactions of the Association of American Physicians (Philadelphia) 65: 337-350
3. Brokk CGD et al (1971) Osteoma cutis and Albright's hereditary osteodystrophy. Br J Derm 85: 471-475

4. Hugar D et al (2014) Albright hereditary osteodystrophy: a case report. J Clin Diagn Res 8:ZD28-30.

5. Ijaz MT et al (2003) A patient with pseudohypoparathyroidism. J Ark Med Soc 100: 164-166

6. 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.

7. Schrallhammer K et al (1988) Primary osteoma cutis. Dermatologist 39: 509-513