Hughes Syndrome

At a glance

Coarse (acromegaloid) facies (flat and sloping forehead) with thick lips, micrognathia, overgrowth of the intraoral mucosa, blepharophimosis, bulbous nose with thick alae and prominent philtrum, cutis verticis gyrata, corneal leukoma, hyperextensible joints, and occasional mental retardation.

Synonyms

Acromegaloid Facial Appearance (AFA) Syndrome; Thick Lips and Oral Mucosa Syndrome.

History

This medical condition was originally described by Helen B Hughes in 1985.

History

Described by Helen B. Hughes, a Canadian pediatrician.

Incidence

An extremely rare abnormality of fetal development remains of unknown cause. Some familial AFA Syndrome cases have been reported.

Genetic inheritance

Autosomal dominant transmission of combined phenotype. The phenotype is highly variable and appears to show complete penetrance. There is no genetic background and no molecular data concerning the syndrome.

Pathophysiology

Unknown.

Diagnosis

Hughes Syndrome is suspected at birth based on the clinical aspects.

Clinical aspects

Characterized at birth with the presence of acromegaloid facial features, thickened lips, arched eyebrows, blepharophimosis, bulbous nose, overgrowth of the intraoral mucosa with exaggerated rugae and frenula, thickened upper lids, narrowing palpebral fissures (blepharophimosis), bulbous nose, and large and doughy hands without clubbing. Pachydermoperiostosis, Asher Syndrome, and multiple neuroma syndromes must be considered in the differential diagnosis.

Precautions before anesthesia

In the Hughes Syndrome, there is no evident impairment of general health. In neonates, eliminate a multiple endocrine Adenomatosis Syndrome (☞MEN) and research carefully for the association of hypoglycemia. Evaluate for airway obstruction and difficult tracheal intubation related to excessive enlargement of the tongue and epiglottis, coarse facial features, and increased thickness and length of mandible.

Anesthetic considerations

Airway management may be the most important consideration with this condition. Because of the facial features suggestive of difficult direct laryngoscopy and tracheal intubation, maintain spontaneous ventilation until tracheal intubation has been secured and lung ventilation confirmed. The potential for postoperative mechanical ventilation support should be considered after major surgical procedures. This approach also allows better pain management without the consequences of respiratory depression and/or obstruction.

Pharmacological implications

No specific pharmacological considerations with this medical condition.

References