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Gradually Transformed: Parry–Romberg Syndrome

The patient had hemifacial atrophy.

The patient had hemifacial atrophy.

Headaches commonly compel patients to seek medical attention. Migraine, tension headache, cluster headaches, rebound headaches from overuse of medication, headaches that occur as an adverse reaction to medication, and those associated with infection are typically included in the differential diagnosis, but sometimes, a rarer entity is encountered. This was true for a 44-year-old farmer from rural Honduras.

The man presented to a health clinic 7 hours from the nearest hospital and reported intermittent headache localized at the right frontal area with ipsilateral parietal radiation. He had been experiencing pain for 10 days and judged its intensity at 4/10, according to the Visual Analogue Scale of Pain. Pain increased with physical activity and was attenuated with acetaminophen, 500 mg once daily, as needed. He had not sought medical care previously.

Assessment

A physical examination revealed prominent atrophy of the bone, skin, subcutaneous tissue, muscle, and cartilage of the right-sided trigeminal regions V1, V2, and V3. His right ear lobe and helix were atrophic as well (Figure 1). The degeneration began in his youth and slowly progressed (Figure 2). An ocular examination revealed peripheral sclerotic changes of the cornea with a decrease of his visual acuity to 20/400. Ipsilateral areas of alopecia and hyperpigmentation of the skin were noted, as were prominent atrophy and madarosis of the inferior eyelid. An oral examination disclosed rightward deviation of the tongue with loss of papilla and the absence of several ipsilateral teeth (Figure 3). A neurologic examination produced normal results. However, the patient was depressed.

Diagnosis

The patient had Parry–Romberg syndrome, also known as progressive hemifacial atrophy, or less commonly, idiopathic hemifacial atrophy, progressive facial hemiatrophy, and Romberg’s syndrome. This rare neurocutaneous disease was first described in 1825 by Parry and later, in 1846, by Romberg; the term “progressive hemifacial atrophy” was applied to the disorder by Eulenberg in 1871.123 It is characterized by wasting of the skin, muscle, subcutaneous tissue, and cartilaginous and osseous tissues below the forehead on one side of the face.45 Usually, the affected regions are dermatomes associated with the fifth cranial nerve.

Parry–Romberg syndrome is a type of localized linear scleroderma. Researchers have tried to determine whether it is a variant of morphea en coup de sabre, a linear scleroderma that marks the scalp and forehead, or a distinct disorder.6 In contrast to those with morphea en coup de sabre, patients with Parry–Romberg syndrome tend to have pronounced disfigurement of the lower face and comparatively minimal damage to the superficial skin. It has been suggested that the disorders represent points on the same spectrum, because patients can have signs and symptoms of both forms (Figure 4).7 Further, Parry–Romberg syndrome and morphea en coup de sabre share some histopathologic characteristics. Investigators who followed patients with each disorder for a 20-year period found that features of the diseases evolved so that ultimately, the clinical characteristics of one group were not distinctly different from the other.7 Some authors use the combined term Parry–Romberg syndrome/morphea en coup de sabre in diagnoses because 28% of patients have evidence of each.78910

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-Carlos Felipe Matute, MD, Felipe Jose Matute, MD, Daniel Cardona, MD, Daniel G. Federman, MD

This article originally appeared in the July issue  of The American Journal of Medicine.

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