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At a glance

Progressive facial hemiatrophy characterized by unilateral atrophy of the skin including the subcutaneous tissue and underlying bone or cartilage. Affects more often the lower half of the face with cutaneous sclerosis and possible involvement of tongue, developing teeth, lips, and salivary glands. Seizures and trigeminal-like pain have been reported.

Synonyms

Facial Hemiatrophy; Progressive Hemifacial Atrophy; Romberg Syndrome.

Incidence

Very rare.

History

It was described in the last century (1825) by Parry and Henoch and subsequently in 1846 by Romberg.

Genetic inheritance

Autosomal dominant inheritance but most cases are sporadic.

Pathophysiology

Unknown. Proposed etiologies include trauma, genetic predisposition, infection, radiation exposure, embryonic developmental dysfunction, sympathetic cervical ganglion dysfunction, and metabolic or endocrinologic disturbances. An inflammatory autoimmune disorder with or without associated vasculopathy is most likely, however.

Diagnosis

Characterized by progressive atrophy of some or all tissues on one side of the face, occasionally extending to other parts of the body.

Clinical aspects

Onset occurs most often before puberty or during adolescence. There is no sexual predominance. The process may be bilateral in 5 to 10% of cases, with preferential left-sided involvement. In most affected individuals, hemifacial atrophy typically progresses over approximately 3 to 5 years and then ceases. All tissues of the face can be involved, including skin (circumscribed cicatricial alopecia, poliosis, increased patchy skin pigmentation), tongue, lip, gingiva, soft palate, cartilage of the nose, ear, subcutaneous fat, larynx, muscle (facial muscle atrophy), eye (enophthalmos, lagophthalmos, ptosis, blepharoptosis, blepharophimosis, loss of periorbital fat, mixed coloring of iris), and bone (basilar kyphosis short body and ramus of mandible). Delayed teeth eruption on ipsilateral side, which leads to malocclusion is frequent. Neurological signs are associated: Horner Syndrome, trigeminal neuralgia, ataxia, migraine, and seizures (contralateral Jacksonian epilepsy).

Precautions before anesthesia

Evaluate neurological function (clinical, history, CT scan, EEG); vision (clinical); airway (clinical, radiographs).

Anesthetic considerations

Direct laryngoscopy and tracheal intubation may be difficult because of tongue atrophy and mandibular anomalies. Tracheal intubation may also be difficult because of laryngeal muscles atrophy. Extubation should probably be overseen for the same reasons. Ventilation with facial mask can be difficult because of hemifacial atrophy. Use of wet swabs or modelling clay to cover the facial defect has been reported. Spontaneous respiration must be maintained until the trachea has been secured and lung ventilation is confirmed. A laryngeal mask airway should be immediately available. Ocular protection is imperative.

Parry-Romberg Syndrome: This adolescent girl with Parry-Romberg Syndrome presents with a severe form of left-sided hemifacial atrophy involving the skin, subcutaneous tissue, and the osseous structures. This results in left-sided enophthalmos (not shown) and profound ...

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