When the Face Changes: Look a Bit Deeper!

Dear Editor,

This case highlights a rare presentation of En coup de sabre (ECDS) and Parry-Romberg syndrome (PRS) with significant nervous system involvement, emphasising the need for early recognition and management.

A 37-year-old woman presented with progressive thickening and hypopigmentation of skin over the left half of her face since one year. It started as a painless swelling in the left periorbital region with hypopigmentation of skin and drooping of left eyelids so that she had to tilt her head backwards in order to see properly. Later, the thickening and hypopigmentation of skin extended to the entire left side of the face and scalp with permanent loss of scalp and brow hair, indrawing of an eye, and difficulty in opening eyes (Figure 1). She had a past history of focal to bilateral tonic-clonic seizure for which she was on Levetiracetam 1 gm/day and trigeminal neuralgia type of pain over left half of her face. No skin thickening over any other parts, Raynaud’s phenomenon or Sicca symptoms. On examination, there was a linear band of sclerosis of skin over middle of scalp and forehead with thickening, hypopigmentation and atrophy of skin over left half of face with scarring alopecia and medial madarosis (Figure 2). There was scarring of left half of lip with restricted mouth opening (Figure 3). Neurological examination revealed enophthalmos, ptosis and lateral deviation of the left eye, indicating oculomotor nerve involvement. Slit lamp and Fundus examination was normal.

Figure 1.

Thickening and Hypopigmentation of Skin with Medial Madarosis and Scarring Alopecia.

Figure 2.

Linear Band of Sclerosis with Hemifacial Atrophy.

Figure 3.

Restricted Mouth Opening.

Routine blood investigations were normal. Skin biopsy was suggestive of perivascular and periadnexal lymphoplasmacytic infiltrate with deposition of thickened collagen s/o scleroderma. EEG was performed and was normal. MRI of brain demonstrated diffuse leptomeningeal and pachymeningeal enhancement along the left cerebral convexity (Figure 4). Areas of patchy white matter hyperintensity were noted in frontal horn of bilateral lateral ventricles and anterior part of left lentiform nucleus (Figure 5). ANA by IFA and ANA blot were normal.

Figure 4.

MRI of Brain Showing Diffuse Leptomeningeal and Pachymeningeal Enhancement Along the Left Cerebral Convexity.

Figure 5.

MRI of Brain Showing Areas of Patchy White Matter Hyperintensity Were Noted in Frontal Horn of Bilateral Lateral Ventricles and Anterior Part of Left Lentiform Nucleus.

This case highlights a rare presentation of ECDS and PRS with pachymeningitis and patchy hyperintensities in the deep white matter leading to focal seizures and trigeminal neuralgia. Patient has been started on tapering doses of prednisolone and methotrexate, to which she responded with resolution of seizures and relief from trigeminal neuralgia at six months follow-up.