Acromegaloid Facial Appearance: Case Report and Literature Review

Pseudoacromegaly is characterized by an acromegalic appearance without any abnormality of growth hormone function. It may be caused by several congenital and acquired conditions. One such condition is the acromegaloid facial appearance (AFA) syndrome. This condition has been described in approximate...

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Main Authors: Adline Ghazi, Shikha Khosla, Kenneth Becker
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:Case Reports in Endocrinology
Online Access:http://dx.doi.org/10.1155/2013/970396
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author Adline Ghazi
Shikha Khosla
Kenneth Becker
author_facet Adline Ghazi
Shikha Khosla
Kenneth Becker
author_sort Adline Ghazi
collection DOAJ
description Pseudoacromegaly is characterized by an acromegalic appearance without any abnormality of growth hormone function. It may be caused by several congenital and acquired conditions. One such condition is the acromegaloid facial appearance (AFA) syndrome. This condition has been described in approximately eight cases/families. It encompasses a spectrum of acromegaloid physical findings, normal growth hormone (GH) and insulin-like growth factor one (IGF-1) levels, and variable mode of inheritance. The most common physical findings are coarse facies, bulbous nose, and thickened lips. We present a case and a review of the literature on this illness. The patient is a 57-year-old woman who was referred to the endocrinology division for evaluation of suspected acromegaly. She had an acromegaloid appearance since birth as well as a terminal hypertrichosis. Her endocrine laboratory evaluation and chromosomal analyses were normal. AFA needs to be considered when evaluating any patient with pseudoacromegaly. Additional cases/families need to be identified in order to better understand the clinical spectrum, clinical implications, and mode of inheritance of AFA.
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spelling doaj-art-71de5e7fdde24bf3a4397672c32379f22025-02-03T05:57:32ZengWileyCase Reports in Endocrinology2090-65012090-651X2013-01-01201310.1155/2013/970396970396Acromegaloid Facial Appearance: Case Report and Literature ReviewAdline Ghazi0Shikha Khosla1Kenneth Becker2Diabetes Care Program, Medstar Good Samaritan Hospital, 5601 Loch Raven Blvd, Baltimore, MD 21239, USADivision of Endocrinology, Washington DC Veterans Affairs Medical Center (DCVAMC), George Washington University, Washington, DC, USADivision of Endocrinology, Washington DC Veterans Affairs Medical Center (DCVAMC), George Washington University, Washington, DC, USAPseudoacromegaly is characterized by an acromegalic appearance without any abnormality of growth hormone function. It may be caused by several congenital and acquired conditions. One such condition is the acromegaloid facial appearance (AFA) syndrome. This condition has been described in approximately eight cases/families. It encompasses a spectrum of acromegaloid physical findings, normal growth hormone (GH) and insulin-like growth factor one (IGF-1) levels, and variable mode of inheritance. The most common physical findings are coarse facies, bulbous nose, and thickened lips. We present a case and a review of the literature on this illness. The patient is a 57-year-old woman who was referred to the endocrinology division for evaluation of suspected acromegaly. She had an acromegaloid appearance since birth as well as a terminal hypertrichosis. Her endocrine laboratory evaluation and chromosomal analyses were normal. AFA needs to be considered when evaluating any patient with pseudoacromegaly. Additional cases/families need to be identified in order to better understand the clinical spectrum, clinical implications, and mode of inheritance of AFA.http://dx.doi.org/10.1155/2013/970396
spellingShingle Adline Ghazi
Shikha Khosla
Kenneth Becker
Acromegaloid Facial Appearance: Case Report and Literature Review
Case Reports in Endocrinology
title Acromegaloid Facial Appearance: Case Report and Literature Review
title_full Acromegaloid Facial Appearance: Case Report and Literature Review
title_fullStr Acromegaloid Facial Appearance: Case Report and Literature Review
title_full_unstemmed Acromegaloid Facial Appearance: Case Report and Literature Review
title_short Acromegaloid Facial Appearance: Case Report and Literature Review
title_sort acromegaloid facial appearance case report and literature review
url http://dx.doi.org/10.1155/2013/970396
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AT kennethbecker acromegaloidfacialappearancecasereportandliteraturereview