Progressive hemifacial atrophy (PHA) has no definite pathogenesis – may be a lymphocytic neurovasculitis or a variant of localized scleroderma.
Also called Romberg’s disease.
Most commonly confused with – localized scleroderma (especially in the forehead) as the “en coup de sabre” (ECDS) or saber mark.
Historical perspective –
Dr. Caleb Hillier Parry – first description of the disease.
Dr. Moritz Heinrich Romberg – further described the clinical manifestations of hemifacial atrophy.
Albert Eulenburg, a German neurologist – coined the term “progressive hemifacial atrophy” or PHA
Blair, Sarnat, Greeley and Neumann in the 1950s all described the use of local flaps to augment the soft-tissue deficiency.
Campbell, and later Converse, described the use of onlay iliac bone graft to augment areas of atrophy.
Wallace et al. described the use of an omental free flap for soft-tissue augmentation.
Jurkiewicz described the use of free vascularized tissue for patients with PHA.
Siebert and Longaker used- free parascapular tissue for the treatment of this disorder.
Patient selection and treatment –
Factors to be considered –
- Age of the patient
- Nature and complexity of the deformity (i.e., which tissue types are affected)
- Presence of associated disorders and conditions
- Patient’s understanding of the problem and the options for treatment.
Timing of the surgery – best performed after the disease has “burned itself out” (delay up to 2 years following what looks like the end of progression).
Exact etiology of PHA is not well understood.
But, has a strong autoimmune and neurogenic component – and a combination of the two been described as a “lymphocytic Neurovasculitis.
Possible etiologies –
- Autoimmune process
- Neurogenic process
- Infection hypothesis
Autoimmune process –
PHA is likely a variant of the autoimmune disease localized scleroderma, specifically the subtype of linear scleroderma that affects the face, termed ECDS “en coup de sabre” or sabre mark.
Thought to be different spectra of the same disease.
Similar characteristics – age of onset, female preponderance, neurological involvement, lymphocytic infiltrate on biopsy, and a clinical course of evolution.
Histologic findings –
Findings similar in PHA & ECDS –
A perivascular infiltrate of mononuclear cells, mostly lymphocytes and monocytes in the dermis – surrounding the dermal neurovascular bundles, termed “lymphocytic neurovasculitis”
Degenerative alterations of the vascular endothelia on electron microscopy
Findings different from ECDS –
|Dermal collagen fibrils||Closely packed||Homogenized and fragmented|
|Elastic fibers||Preserved||Destruction of elastic fibers|
|Dermal appendages (hair follicles and sebaceous glands)||Hypoplastic||Atrophy|
Neurogenic process –
Clinical manifestations supporting a neurogenic origin –
- Distribution of facial atrophy typically follows a dermatome of the trigeminal nerve. (Unilateral in 95%, rarely crossing the midline)
- Dermal lymphocytic infiltrate centered around neurovascular bundles in the dermis
- Clinically – CNS involvement are found in approximately 8–20% of patients.
- Radiologically – atrophy and calcinosis, multiple or diffuse brain lesions.
- CSF analysis – findings consistent with an inflammatory process – presence of oligoclonal bands and elevated IgG levels.
Infection hypothesis –
The most notorious suspect for both PHA and ECDS was Borrelia burgdorferi (not substantiated).
Other agents – Epstein–Barr virus.
These can be mere incidental findings than causative etiology.
Role of trauma inducing PHA is quite controversial.
Incidence – not well defined.
Estimated incidence of 5 per 1 000 000 people.
Prevalence of 8 per 100 000 people.
No racial predilection of PHA
Slight female predominance – F: M = 2-3 :1
Median age of onset -is 10 years old (range of 5–15 years)
Most cases of are sporadic, few familial cases have been reported.
Clinical manifestations –
(Cutaneous, subcutaneous, muscle, bone and cartilage)
Initial clinical manifestations include both cutaneous findings and subcutaneous atrophy.
Subcutaneous atrophy typically evolves first on the cheek or temple and later extends to the brow, angle of mouth, and/or neck.
Later in course – atrophy or growth arrest of the underlying bone and cartilage – facial deformity.
Facial muscles – atrophic, but normal function.
The disease typically progresses slowly over several years (2–10 years) and then tends to enter a stable phase.
Cutaneous and subcutaneous involvement –
- Hyperpigmentation and hypopigmentation
- Dermal atrophy
- Subcutaneous atrophy and
- Skin thickening/fibrosis
- Alopecia of the scalp, eyebrow, and eyelashes
Pigmentary changes –
Hyperpigmentation – “bluish” discoloration – most likely due to increased vascularity during the active or inflammatory phase.
Later on lesion might become hypopigmented.
Discolorations – dermatomal distribution along the trigeminal nerve.
When skin lesion becomes fibrotic (thickened skin) or atrophic and forms a well-demarcated linear depression (groove) in the frontoparietal or hemifacial distribution – considered to be ECDS morphea or linear scleroderma of the head.
Musculoskeletal involvement –
Facial muscle – atrophy and thinning – mostly affecting masseteric muscles, tongue, and palatal muscles.
Function of muscles are usually preserved.
Degree of skeletal hypoplasia is dependent upon the age of onset. Onset younger than 10 yrs – highest risk.
Maxilla and mandible are most often involved – both sagittal and vertical undergrowth.
Bony involvement is also unilateral – profound tilting of the occlusal plane.
When PHA involves the V1 distribution – enophthalmos is common.
Enophthalmos is due to atrophy of the periorbital subcutaneous tissues rather than skeletal hypoplasia.
CNS involvement –
Occur in approximately 8–21% of patients.
Manifestations – Seizures, hemiparesis, migraine headaches, neuropsychiatric disturbances, ischemic stroke, and intellectual deterioration
The most common CNS manifestation is – localization-related seizures.
Brain lesions of PHA appear to be more epileptogenic (than MS and other autoimmune disorder of CNS).
Brain imaging is – often abnormal, 90% cases.
Lesions observed are – T2 hyperintense lesions, intraparenchymal calcifications and brain atrophy.
The brain atrophy “respects” the midline – does not cross the midline.
Not a direct correlation between brain lesion and degree of severity of skin and subcutaneous involvement.
Many patients may be neurologically asymptomatic in spite of visible brain lesions.
Brain biopsies – brain parenchymal inflammation with a perivascular lymphocytic cuffing. (Sclerosis, fibrosis, gliosis of brain parenchyma, meninges, and vasculature have also been reported.)
CSF findings – oligoclonal bands and elevated IgG levels.
Ocular involvement –
The MC findings – uveitis, optic neuritis, and globe retraction.
Other findings – Ocular muscle paralysis, ptosis, Horner syndrome, heterochromia iridis, and dilated fixed pupil.
Slit lamp examination is recommended.
Oral involvement –
Tongue and upper lip of the affected side of the face are often markedly atrophic.
Maxilla and mandible hypoplastic – resulting in malocclusion (unilateral posterior crossbite) and altered dentition.
An abnormally skewed high-arched palate.
Laboratory findings and prognostic indicators –
↑ WBC – 10%
↑ ESR – 20%
Autoantibodies +ve – 40-50% –
Anti-single-stranded DNA (ss-DNA) – a/w disease severity and progressive disease features.
- Ant- histone – – a/w disease severity and progressive disease features.
- Anti-double-stranded DNA,
- Anti-Scl-70 antibodies
Clinical prognostic indicator – age of onset <10yrs – a/w profound skeletal dysplasia.
Differential diagnosis –
- Congenital hemifacial atrophy
- ECDS subtype of localized scleroderma
Congenital hemifacial atrophy – present since birth. Not progressive.
ECDS is difficult to distinguish and sometime argued to be spectrum of same disease.
Lipodystrophy can occur due to –
Congenital diseases – progeria, Dunnigan syndrome, and Kobberling syndrome.
Endocrine disorders – hyperthyroidism and diabetes
Autoimmune diseases – systemic sclerosis and dermatomyositis
Drug-induced atrophy – protease inhibitors of ART.
Treatment/surgical technique –
Few patients can be considered candidate for immunosuppression –
- Patients having any cutaneous features of localized scleroderma
- The appearance of a demarcated line, as in ECDS
Drugs – corticosteroids + disease modifying agents such as Methotrexate.
Duration of treatment – usually 3-5 years.
Reconstruction planned when disease is stable “off” the immunosuppression – typically after 1 year.
Nonsurgical intervention –
Alloplastic filling agents –
Advantage – absence of a donor site and their abundant supply.
Disadvantage – Susceptibility to local tissue responses, including capsule formation, seroma development, infection, extrusion, and cost.
Examples – silicone gel, hydroxyapatite beads, and hyaluronic acid.
Structural fat grafting –
Easily harvested, No donor site morbidity, No functional loss.
Atrophy of some portion of fat can occur.
Surgical intervention –
Currently offer the largest amount of tissue with excellent safety.
Can be used in conjunction with fillers to provide the best possible result.
Local pedicle flap –
Provides small amount of tissue.
Most obvious choice of flap – superficial temporal pedicle. It can be used in combination with fat grafting or dermal fat to increase the bulk.
Free flap –
- Gracilis & Radial forearm adipofascial flap – for small volume augmentation
- Deep inferior epigastric perforator – more soft tissue bulk.
- Omentum – lacks internal structure – can lead to soft tissue decent with time.
- Superficial inferior epigastric flap
- Transverse rectus abdominis muscle flap
- Deltopectoral flap
- Anterolateral thigh adipofascial flap
- Scapular and parascapular flap
Scapular and parascapular adipofascial flap based on the circumflex scapular pedicle are the most useful flaps for restoring facial volume.
Advantages – relatively straightforward harvest, posterior-torso donor scar, and minimal functional deficit.
Disadvantage – positioning in either a prone or lateral decubitus to harvest,
Technique of soft-tissue augmentation –
- Mark the defect on face of patient with patient standing.
- Make a transparency of the defect using an X-ray film.
- Use the transparency to mark the defect on the planned flap.
- Procedure begins with creation of the subcutaneous pocket on the face – extent of the dissection must extend beyond the borders of the atrophy.
- Suitable recipient vessels are identified for the anastomosis. Achieve hemostasis. Pack the area with counted sponges.
- Harvest the flap.
- Flap is inset.
- Terminal flap ends should be contoured and fixed to the skin with overlying bolsters.
- Drains are placed at donor and recipient site.
- Hourly monitoring of flap done with audible Doppler for 24 hours, and then 2 hourly for next 24 hours.
- Patient is kept NPO for first night, then gradually allowed orally.
Outcomes from soft-tissue augmentation are usually good.
Secondary procedures –
Revision of flap is almost always required and should be part of the plan of management.
First revision is planned after 6 months following flap placement.
Contents written by – Dr. Kamlesh Kumar (MBBS, AIIMS, New Delhi, MS(Surgery), AIIMS, New Dehi, MCh (Burns, Plastic & Maxillofacial Surgery) VMMC & Safdarjung hospital, New Delhi), 2019.