The clinical phenotype of pseudohypoparathyroidism (PHP) is caused by Albright’s Hereditary Osteodystrophy (AHO). Often, “round face” the only facial clinical sign reported in the literature. The aim of this study was to highlight various cranio-maxillofacial clinical findings associated with AHO.
Results:
Four patients presented with PHP type 1a. Only one patient exhibited the classical round face. All patients exhibited dental anomalies, class III malocclusion with maxillary retrusion, and a copper beaten appearance of the skull. One suffered from craniosynostosis.
Conclusion:
The frequency of craniofacial and dental features associated with malocclusion should prompt careful follow-up, particularly during facial growth, in patients with AHO.
AggarwalPZavrasA. Parathyroid hormone and its effects on dental tissues. Oral Dis. 2012;18(1):48–54.
2.
AlbrightFBurnetCHSmithCHParsonW. Pseudohypoparathyroidism: an example of ‘Seabright-Bantam Syndrome.’Endocrinology. 1942;30:922–32.
3.
AlbrightFForbesAPHennemanPH. Pseudo-pseudohypoparathyroidism. Trans Assoc Am Physicians.1952;65:337–3350.
4.
ChenQKajiHIuMFNomuraRSowaHYamauchiMTsukamotoTSugimotoTChiharaK. Effects of an excess and a deficiency of endogenous parathyroid hormone on volumetric bone mineral density and bone geometry determined by peripheral quantitative computed tomography in female subjects. J Clin Endocrinol Metab. 2003;88(10):4655–4658.
5.
ChoSYYoonYAKiCSHuhHJYooHWLeeBHKimGHYooJHKimSYKimSJ. Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Exp Clin Endocrinol Diabetes. 2013;121(9):539–545.
6.
ChuXZhuYWangONieMQuanTXueYWangWJiangYLiMXiaW. Clinical and genetic characteristics of pseudohypoparathyroidism in the Chinese population. Clin Endocrinol (Oxf). 2018;88(2):285–294.
7.
ClarkeBL. Bone disease in hypoparathyroidism. Arq Bras Endocrinol Metabol. 2014;58(5):545–552.
8.
ClarkeBLBrownEMCollinsMTJüppnerHLakatosPLevineMAMannstadtMMBilezikianJPRomanischenAFThakkerRV. Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab. 2016;101(6):2284–2299.
9.
DuValMGDavidsonSHoACohenRParkMNourianSBakerGSándorGKB. Albright’s hereditary osteodystrophy with extensive heterotopic ossification of the oral and maxillofacial region: how fetuin research may help a seemingly impossible condition. J Can Dent Assoc. 2007;73(9):845–850.
10.
EyreWGReedWB. Albright’s hereditary osteodystrophy with cutaneous bone formation. Arch Dermatol. 1971;104(6):634–642.
11.
FitchN. Albright’s hereditary osteodystrophy: a review. Am J Med Genet. 1982;11(1):11–29.
12.
GomesMFCamargoAMASampaioTAGrazioziAMOCArmondAM. Oral manifestations of Albright hereditary osteodystrophy: a case report. Rev Hosp Clin Fac Med Sao Paulo. 2002;57(4):161–166.
13.
GorlinRJCohenMJrHennekamRCM. Syndromes of the Head and Neck. Oxford, England: Oxford University Press; 2001.
14.
HugarDSajjanshettySHugarSKadaniM. Albright hereditary osteodystrophy: a case report. Journal of Clinical and Diagnostic Research: JCDR. 2014;8(10):ZD28–ZD30.
15.
JeongKHLewBLSimWY. Osteoma cutis as the presenting feature of Albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism. Ann Dermatol. 2009;21(2):154–158.
16.
KottlerML. Paternal GNAS mutations: which phenotypes? What genetic counseling? [in French]. Annales D’endocrinologie. 2015;76(2):105–109.
17.
KuzelARLodhiMURahimM. Classic and non-classic features in pseudohypoparathyroidism: case study and brief literature review. Cureus. 2017;9(11):e1878.
18.
LangdahlBLMortensenLVesterbyAEriksenEFCharlesP. Bone histomorphometry in hypoparathyroid patients treated with vitamin D. Bone. 1996;18(2):103–108.
19.
LevineMA. An update on the clinical and molecular characteristics of pseudohypoparathyroidism. Curr Opin Endocrinol Diabetes Obes. 2012;19(6):443–451.
20.
LinglartAMantovaniGGarinIUsardiAElliFMde NanclaresGP. The importance of networking in pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations. Pediatr Endocrinol Rev. 2017;15(suppl 1):92–97.
MantovaniGBastepeMMonkDde SanctisLThieleSUsardiAAhmedSFBufoRChoplinTDe FilippoG. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement. Nat Rev Endocrinol. 2018;14(8):476–500.
23.
MantovaniGde SanctisLBarbieriAMElliFMBollatiVVairaVLabarilePBondioniSPeverelliELaniaAG. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab. 2010;95(2):651–658.
24.
PhilbrickWMDreyerBENakchbandiIAKaraplisAC. Parathyroid hormone-related protein is required for tooth eruption. Proc Natl Acad Sci U S A. 1998;95(20):11846–11851.
25.
PrendivilleJSLuckyAWMallorySBMughalZMimouniFLangmanCB. Osteoma cutis as a presenting sign of pseudohypoparathyroidism. Pediatr Dermatol. 1992;9(1):11–18.
26.
RitchieGM. Dental manifestations of pseudohypoparathyroidism. Arch Dis Child. 1965;40(213):565–572.
27.
RubinMRDempsterDWZhouHShaneENickolasTSlineyJSilverbergSJBilezikianJP. Dynamic and structural properties of the skeleton in hypoparathyroidism. J Bone Miner Res. 2008.23(12):2018–2024.
28.
SanoSNakamuraAMatsubaraKNagasakiKFukamiMKagamiMOgataT. (Epi)genotype-phenotype analysis in 69 Japanese patients with pseudohypoparathyroidism type I. J Endocr Soc. 2018;2(1):9–23.
29.
SchipaniELanskeBHunzelmanJLuzAKovacsCSLeeKPirroAKronenbergHMJüppnerH. Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide. Proc Natl Acad Sci U S A. 1997;94(25):13689–13694.
TafajOJüppnerH. Pseudohypoparathyroidism: one gene, several syndromes. J Endocrinol Invest. 2017;40(4):347–356.
32.
ThieleSMantovaniGBarlierABoldrinVBordognaPDe SanctisLElliFMFresonKGarinIGrybekV. From pseudohypoparathyroidism to Inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the EuroPHP network. Eur J Endocrinol. 2016;175(6):P1–P17.
33.
ThieleSWernerRGrötzingerJBrixBStaedtPStruveDReizBFaridaJHiortO. A positive genotype-phenotype correlation in a large cohort of patients with pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. Mol Genet Genomic Med. 2015;3(2):111–120.
34.
TuranS. Current nomenclature of pseudohypoparathyroidism: inactivating parathyroid hormone/parathyroid hormone-related protein signaling disorder. J Clin Res Pediatr Endocrinol. 2017;9(suppl 2):58–68.
35.
WilsonLCOude LuttikhuisMEClaytonPTFraserWDTrembathRC. Parental origin of Gs alpha gene mutations in Albright’s hereditary osteodystrophy. J Med Genet. 1994;31(11):835–839.
