A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4.09), fT4 1.21 ng/dl (1.01-1.6), fT3 3.74 pg/ml (3.26-5.34), anti-TG antibodies 282 UI/ml (UI/ml<34), anti-TPO antibodies >4000 (UI/ml<115). A thyroid ultrasonography revealed an enlarged gland with irregular margins and a diffusely inhomogeneous echo-structure due to the presence of minute hyperechoic dots (snowstorm appearance), mixed with hypo-anechoic areoles, without signs of vascular overflow. Moreover, numerous lymph nodes with globose and polycyclic profiles and similar structure to thyroid parenchyma were noted. Initial diagnosis of Hashimoto's thyroiditis (HT) was made. However, similar ultrasound appearance was reported in literature associated with Diffuse Sclerosing Variant of Papillary Thyroid Cancer (DSV PTC). Due to lymph node enlargement a biopsy was carried out and the histological examination has confirmed this diagnosis. DSV PTC represents a rare variant (0.7-6.6%) of PTC more common between 15 and 30 years of age. It typically involves one or both lobes. The relationship between HT and the risk of DSV PTC is still controversial. The coexistence of HT can make diagnosis of this tumor more challenging: in many cases described in the literature, the inhomogeneous echostructure have been misinterpreted as the micronodular pattern of thyroiditis. GHS is a rare craniofacial disorder. The phenotype is clinically heterogeneous and can also include abnormalities of organs and/or skeleton. A multifactorial origin has been proposed, including environmental genetic and epigenetic mechanisms. Indeed, several chromosomal abnormalities, many gene variants and DNA methylation of a multitude of genes have been associated with GHS. To our knowledge this is the first case described of DSV PTC in a patients affected by GHS. Although the two conditions may be considered as two separate entities, it is possible that the altered formation of the I and II branchial arch may play a role in predisposing to thyroid tumor development. Giving the severity of this tumor and the complexity of the syndrome, further studies are needed to try to identify a possible common origin of the two conditions.
15 Sep 2022 - 17 Sep 2022