Acromegaloid Facial Appearance: Case Report and Literature Review

Abstract

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.

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder

“…This mutation was found previously in two patients with Cantu syndrome . Another pathogenic de novo ABCC9 missense mutation c.3461G>A (p.Arg1154Gln) was reported in HAFF , also previously identified in association with Cantu syndrome . We have identified an ABCC9 mutation c.3460C>T (p.Arg1154Trp) in an Egyptian girl with HAFF, confirming that similar mutations can give rise to dissimilar phenotypes.…”

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

“…This rare syndrome is characterized by hypertrichosis terminalis, coarse facies, bulbous nose, thickened lips, narrow palpebral fissures, thick intraoral mucosa, high arched eyebrows, mental retardation (not always present), large hands, hyperextensible joints, recurrent pericardial effusions and hypotestosteronemia. Autosomal recessive inheritance has been suggested [ 41 , 42 ].…”

Pseudoacromegaly—A challenging entity in the endocrine clinic: A systematic review

“…Most pseudoacromegaly conditions are rare and heterogeneous with a wide phenotypic variability within the same disease, and they often have overlapping features with other disorders, which imposes diagnostic difficulties. Moreover, these cases may present to different medical specialists with distinct degrees of awareness and experience for pseudoacromegaly conditions, which may lead to further diagnostic delays, in some cases longer than 30 years, 14,15,18,26 or in others the underlying disorder may never be identified 27–32 …”

“…Moreover, these cases may present to different medical specialists with distinct degrees of awareness and experience for pseudoacromegaly conditions, which may lead to further diagnostic delays, in some cases longer than 30 years, 14,15,18,26 or in others the underlying disorder may never be identified. [27][28][29][30][31][32] Adult and paediatric endocrinologists may be referred with pseudoacromegaly patients, thus it is important to be aware of this entity and recognize the most common conditions, or at least those that more likely mimicking acromegaly (pachydermoperiostosis and insulin-mediated pseudoacromegaly). Forty cases (57%) were referred to endocrinologists, predominantly insulin-mediated pseudoacromegaly cases, which may be explained, at least in part, by the common occurrence of metabolic disorders such as obesity, diabetes or dyslipidemia, while other endocrine-related issues may also coexist, including amenorrhoea, polycystic ovaries or hirsutism.…”