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Hormone disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Albright hereditary osteodystrophy is a rare disorder that can lead to the appearance of certain physical characteristics, including a short stature in adulthood, a tendency to have weight problems, and shortening of some of the bones in the hands and feet. The characteristics of this disorder are associated with a resistance to parathyroid hormone (pseudohypoparathyroidism type 1a) and to other hormones.
Principles of Clinical Diagnosis
Published in Susan Bayliss Mallory, Alanna Bree, Peggy Chern, Illustrated Manual of Pediatric Dermatology, 2005
Susan Bayliss Mallory, Alanna Bree, Peggy Chern
1. Albright hereditary osteodystrophy (AHO) Includes: pseudohypoparathyroidism and pseudopseudohypoparathyroidismHeterogeneous disorder with multiple areas of subcutaneous ossification which are present at birth or may occur later
Atypical Noninfectious Surgically Induced Necrotizing Scleritis in a Child
Published in Ocular Immunology and Inflammation, 2022
Darakhshanda Khurram Butt, Muhammad Irfan Khan, Basil M Fathalla, Syed Asad Ali, Igor Kozak
Herein, we describe a child presenting with SINS with underlying complicated immunocompromised status. Autoimmune disease in this case was ruled out, as the patient had no underlying systemic vasculitis or arthritis and no evidence of connective tissue disease. However, WES showed heterozygous duplication of the GNAS gene, which is linked with PHP1A, or Albright’s hereditary osteodystrophy. Sclerochoroidal calcification or retinal changes associated with PHP1A has been rarely reported but to the best of our knowledge there is no clear association between PHP1A and SINS.11 Gregory et al. postulated that noninfectious scleral melt is due to inflammatory response and degradation of scleral collagen by lytic enzymes released by surrounding conjunctival tissue secondary to surgical insult.12 In our patient, necrotizing scleritis developed only in one eye at the site of inferior rectus insertion suggesting surgical trauma as a precipitating factor.