Morphea en coup de sabre and Parry-Romberg Syndrome: When it is Written on the Face.

Abstract

A 4-year-old girl was referred to the dermatology department with a 3-year history of a linear patch of alopecia and a sunken-in appearance of the left side of the face. It began as an erythematous patch on the frontal scalp and forehead that progressively evolved to skin tissue atrophy. Over time, it extended to the nose and chin, leading to facial asymmetry. Her family history was unremarkable. Physical examination showed a shiny, ivory-colour, atrophic, hairless plaque extending longitudinally from the frontal scalp to the middle forehead. The loss of subcutaneous fat tissue on the left aspect of the nose, left upper lip and left portion of the mentum (Fig. 1a) was also evident. Neurological abnormalities were not found. Laboratory investigations, including antinuclear and antidouble-stranded DNA antibodies, were negative. Brain computerised tomography and magnetic resonance imaging revealed a reduction on the thickness of the left frontal skullcap, overlying soft tissues and discrete ipsilateral brain atrophy (Fig. 1b). Clinical and imagiological findings were compatible with morphea en coup de sabre (ECDS) with incipient progressive hemifacial atrophy or Parry–Romberg syndrome (PRS). She was initially treated with a weekly dose of 15 mg of subcutaneous methotrexate with later transition to oral therapy. No progression of the disease was noticed at 8-month follow-up. PRS is a rare entity characterised by slowly progressive facial hemiatrophy that typically affects the skin and subcutaneous tissues and may later affect the musculature, cartilage and bone structures.1 Its natural history is to progress slowly over the years reaching a ‘burn-out’ phase.2 It is more commonly seen in the first two decades of life with slight female predominance.2 The underlying pathophysiology remains uncertain.1, 3 However, clinical improvement with immunosuppressive therapy during the active phase of the disease strongly suggests an underlying immunologic-mediated process.1, 3 Neurological symptoms (seizures, headache and facial pain) affect 15–20% of patients and brain involvement can be better evaluated with magnetic resonance imaging.1 There has been some controversy on the relationship between PRS and morphea ECDS, a type of linear morphea. The largest studied cohort with 54 patients found that both entities frequently co-exist and both are likely variants of morphea,4 lying on the same disease spectrum. Other authors believe that both can be distinguished by their histopathological features, such as the absence of cutaneous sclerosis and preservation of dermal elastic tissue in PRS, differentiating it from the spectrum of scleroderma diseases.1 Management of PRS is difficult and a multidisciplinary approach is often required. Treatment of PRS aims to slow disease progression and provide symptomatic relief.1, 2, 5 Immunosuppressive therapies, such as systemic corticosteroids, methotrexate, antimalarials or mycophenolate mofetil, have been used with variable success.3, 5 When clinically stable, cosmetic procedures like autologous fat-grafting can be attempted.4 In conclusion, we report this case to highlight the importance of an early diagnosis on these potentially disfiguring diseases as well as the association between morphea ECDS and PRS. Verbal approval has been obtained from the patient's parents for publication of their child's photographs and case details.