Literature DB >> 21605097

Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism.

Susannah Ward1, Ella Sugo, Charles F Verge, Orli Wargon.   

Abstract

We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature with autosomal dominant inheritance from the father, but no dysmorphic features and no parathyroid hormone (PTH) resistance. Osteoma cutis can manifest as an isolated skin disease, a secondary condition to other skin diseases (such as acne), or in association with several syndromes, including AHO, which in turn may be associated with PTH resistance. The management and prognosis of patients diagnosed with osteoma cutis is determined by whether the skin manifestation has occurred in isolation, in association with a syndrome, or as a secondary skin disease. These three paediatric cases highlight the importance of understanding the aetiology and associations of osteoma cutis in order to appropriately investigate and manage patients who present with this rare skin disease.
© 2011 The Authors. Australasian Journal of Dermatology © 2011 The Australasian College of Dermatologists.

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Mesh:

Year:  2011        PMID: 21605097     DOI: 10.1111/j.1440-0960.2010.00722.x

Source DB:  PubMed          Journal:  Australas J Dermatol        ISSN: 0004-8380            Impact factor:   2.875


  9 in total

1.  A G protein-coupled, IP3/protein kinase C pathway controlling the synthesis of phosphaturic hormone FGF23.

Authors:  Qing He; Lauren T Shumate; Julia Matthias; Cumhur Aydin; Marc N Wein; Jordan M Spatz; Regina Goetz; Moosa Mohammadi; Antonius Plagge; Paola Divieti Pajevic; Murat Bastepe
Journal:  JCI Insight       Date:  2019-09-05

2.  Plate-like osteoma cutis: nothing but skin and bone?

Authors:  Inês Coutinho; V Teixeira; J C Cardoso; J P Reis
Journal:  BMJ Case Rep       Date:  2014-05-05

Review 3.  GNAS Spectrum of Disorders.

Authors:  Serap Turan; Murat Bastepe
Journal:  Curr Osteoporos Rep       Date:  2015-06       Impact factor: 5.096

4.  Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.

Authors:  Serap Turan; Susanne Thiele; Olta Tafaj; Bettina Brix; Zeynep Atay; Saygin Abali; Belma Haliloglu; Abdullah Bereket; Murat Bastepe
Journal:  Bone       Date:  2014-10-18       Impact factor: 4.398

Review 5.  An update on the clinical and molecular characteristics of pseudohypoparathyroidism.

Authors:  Michael A Levine
Journal:  Curr Opin Endocrinol Diabetes Obes       Date:  2012-12       Impact factor: 3.243

Review 6.  GNAS mutations and heterotopic ossification.

Authors:  Murat Bastepe
Journal:  Bone       Date:  2017-09-06       Impact factor: 4.398

7.  Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.

Authors:  Yan Zhu; Qing He; Cumhur Aydin; Isabelle Rubera; Michel Tauc; Min Chen; Lee S Weinstein; Vladimir Marshansky; Harald Jüppner; Murat Bastepe
Journal:  Endocrinology       Date:  2015-12-15       Impact factor: 4.736

8.  Osteoma cutis: rare painful tumor in atypical location.

Authors:  María Encarnación Gómez Sánchez; Maria Luisa Martínez Martínez; Jose Luis Agudo Mena; Luis Iñiguez De Onzoño Martín
Journal:  An Bras Dermatol       Date:  2017       Impact factor: 1.896

Review 9.  Epidemiology and Diagnosis of Hypoparathyroidism.

Authors:  Bart L Clarke; Edward M Brown; Michael T Collins; Harald Jüppner; Peter Lakatos; Michael A Levine; Michael M Mannstadt; John P Bilezikian; Anatoly F Romanischen; Rajesh V Thakker
Journal:  J Clin Endocrinol Metab       Date:  2016-03-04       Impact factor: 5.958

  9 in total

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