PA38 A rare case of facial atrophy in a 10-year-old girl

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Abstract A 10-year-old girl presented to dermatology with a 6-month history of progressive left-lower-chin redness with associated subcutaneous atrophy. There were no preceding symptoms or trauma. The area itself was asymptomatic and she denied any functional symptoms. She was otherwise fit and well with no relevant past medical history and no family history of morphoea. Clinical examination demonstrated an erythematous patch overlying the body of the left mandible with marked atrophy of the underlying soft and skeletal tissue, giving a sunken appearance. A class 2 malocclusion and retro­gnathia of the jaw were also noted. A cranial nerve examination was normal. Bloodwork including an autoimmune panel was normal. Ultrasound revealed a smaller left parotid gland, atrophy of the anterior digastric muscle, and absence of the left submandibular gland and masseter muscle. The left hemimandible bony contour appeared abnormal. Magnetic resonance imaging findings were consistent with the ultrasound and showed no significant brain asymmetry or abnormality. While a radiological diagnosis suggested a first pharyngeal arch developmental abnormality, the clinical presentation indicated an acquired disease course, not congenital, with normal facial symmetry evident in photographs within the past 2 years. The working diagnosis was progressive hemifacial atrophy (Parry–Romberg syndrome), a rare, acquired disorder of unknown aetiology characterized by unilateral, progressive wasting of facial skin and soft tissues, which can extend to involve muscle and bone. Neurocutaneous symptoms may also be present. Progressive hemifacial atrophy is considered a variant of localized scleroderma. It is primarily a clinical diagnosis, supported by radiological imaging. Management is challenging, and is aimed at slowing disease progression, often using immunosuppressants. In our case, methotrexate and prednisolone failed to adequately control disease progression. As such, the patient was commenced on pulsed intravenous methylprednisolone. She received care from the local dermatology, rheumatology and oral maxillofacial teams and was also referred to Great Ormond Street Hospital. This case underscores the challenges in diagnosing and managing progressive hemifacial atrophy, highlighting the crucial role of integrating clinical correlation with investigative findings. It also emphasizes the need for a multidisciplinary approach to effectively address such cases.

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