Summary Card
Definition
An acquired condition causing progressive wasting of skin, soft tissue and bone.
Clinical Features
Progressive unilateral wasting in the trigeminal region begins in early adolescence and stabilises over time.
Management
Radiological investigations help support the diagnosis and reconstruction to restore atrophied function and structures.
Definition
Progressive hemifacial atrophy is an acquired condition characterised by gradual wasting of facial skin, soft tissue and bone. The majority of cases are unilateral, sporadic and without a family history.
The exact aetiology is relatively unknown.
Clinical Features
Key Point
Progressive hemifacial atrophy is the progressive wasting of skin, soft tissue and one in the trigeminal regions. Other features include pigmentation, coup de sabre and seizures.
Progressive hemifacial atrophy is characterised by progressive soft tissue and bone wasting. General speaking, there are "rules of thumb", which include:
- Distribution of the trigeminal nerve.
- Gradually progresses and then gradually stops over time.
- It is irreversible without intervention.
- Signs begin to manifest in early adolescence and stop in adulthood.
Clinical features of progressive hemifacial atrophy include:
- Hair: loss or change in colour
- Forehead: 'coupe de sabre' (forehead depression extending into hairline)
- Eyes: ptosis, enophthalmos, heterochromia iridis (2 different eye colours)
- Cheek: Zygomatic atrophy, atrophy of masticators.
- Mandible: Micrognathia
- Skin: pigment changes
- Mouth: Malocclusion, tongue or palate atrophy.
- Non-physical signs: seizures
Management
Key Point
Progressive hemifacial atrophy is a clinical diagnosis supported by MRI and CT scans. Treatment focuses on the reconstruction of atrophied structures and restoration of structures.
The management of progressive hemifacial microsomia is centred on a multi-disciplinary team. Treatment is generally not offered while the condition has not been stable for a period of time.
Investigations
Progressive hemifacial atrophy is a clinical diagnosis supported by radiological and histological investigations.
- MRI: confirm atrophy of soft tissue and bony structures, display infarction, haemorrhage and white matter hyper-density, which can help guide treatment.
- Histology: dermal sclerosis, fat atrophy, decrease in adnexal structures, and perivascular plasma cells and lymphocytes. This is not routine.
- Genetic counselling is not recommended at this time
The radiological investigations can be visualised below.
Treatment
Treatment is generally not offered while the condition has not been stable for a period of time. These options include:
- Grafts: fat, dermatofat, cartilage
- Flaps: free flaps, muscle transfers, adipofascial flaps
- Bone Reconstruction: Le Fort 1 Osteotomy, Genioplasty
- Implants: Alloplastic Augmentation
