Parry-Romberg Syndrome

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 by Michael T Yen, MD on November 7, 2020.


Parry-Romberg syndrome (PRS) is a rare disorder of unknown etiology characterized by slowly progressive hemifacial atrophy affecting facial subcutaneous tissue, muscle, cartilage, and bone. The symptoms of Parry-Romberg syndrome vary from one person to another with severity ranging from mild to severe. A wide range of symptoms and signs occur throughout the adnexa, orbit, and globe. Changes in periocular structures occur secondary to the facial atrophy exhibited in PRS.

Disease Entity

Parry-Romberg syndrome (PRS) ICD-10-CM Code G51.8 (Other disorders of facial nerve)

Disease

Parry-Romberg syndrome (PRS) is a rare disorder characterized by slowly progressive hemifacial atrophy affecting facial subcutaneous tissue, muscle, cartilage, and bone. Over 80% of cases are unilateral, but both sides of the face can be affected, and the severity and specific symptoms of the syndrome are highly variable. Onset usually begins between 5 and 15 years old with progression lasting from 2 to 10 years before reaching a stable phase. One of the most common early signs of PRS is “frontal linear scleroderma en coupe de sabre”, a localized form of scleroderma resulting in a hypo or hyperpigmented skin lesion. Initial facial changes involve the tissues above the maxilla or nasolabial fold and progress to the mouth, eyes brow, ear, and neck. The eye and cheek may become sunken, and facial hair may turn white and fall out. The skin overlying affected areas may become hyperpigmented or develop patches of vitiligo. Facial muscle atrophy and facial bone loss may occur. In addition to characteristic facial abnormalities and systemic findings, such as neurological, cardiac, and rheumatological disorders, ophthalmological changes occur in 10-35% of patients and can include various periocular, ocular, and neuro-ophthalmological disorders in either the ipsilateral or contralateral orbit (1, 2).

Pathogenesis

The pathogenesis of Parry-Romberg syndrome is unknown, and its presentation is highly variable and appears to occur sporadically. Various mechanisms have been proposed to explain the development of the disorder, including inflammation in the nerves supplying skin and fat causing an autoimmune reaction, disturbance of fat metabolism, trauma, infection, vascular malformations, trigeminal neurovasculitis, autoimmune, hyperactivity of the brain stem, cervical sympathetic dysfunction, and genetics. More research is necessary to determine the specific cause (2).

Demographics

Parry-Romberg syndrome is a rare disorder with incidence estimates ranging from 1 in 700,000 to 1 in 250,000 people (3). Its true incidence is unknown due to the disorder often going undiagnosed or misdiagnosed. It is more commonly seen in females with most patients experiencing onset of symptoms before 20 years old.

Genetics

There is no evidence of a genetic defect or pattern of inheritance associated with PRS

Other Names

Hemifacial atrophy

Progressive facial hemiatrophy

Progressive hemifacial atrophy

Romberg syndrome

Associations

PRS is considered a subset of linear morphea, a type of localized scleroderma. Linear scleroderma en coup de sabre (LSCS) is a lesion in the frontoparietal scalp that also falls on the spectrum of localized scleroderma and is often mistaken for PRS due to their similar clinical appearance. Up to 28% of patients with LSCS show progressive hemifacial atrophy similar to PRS, and conversion from LSCS to PRS may also occur; however, LSCS does not usually involve deeper structures of the head and neck. Bilateral facial or cerebral atrophy is sometimes classified as Barraquer-Simons syndrome (2).

Diagnosis

While onset of symptoms in most cases occurs before 20 years of age, diagnosis of PRS can be difficult and take years. Diagnosis is based on identification of typical characteristics of the syndrome through clinical evaluation and imaging. MRI is best to characterize soft tissue and bony changes, as well as neurological changes.

Signs and Symptoms

The symptoms of Parry-Romberg syndrome vary from one person to another with severity ranging from mild to severe. Manifestations are highly variable and based on a number of case reports. It is important to note that affected individuals will not have all symptoms discussed or have more mild variations. While Parry-Romberg syndrome usually affects facial tissue, patients may develop neurological abnormalities or atrophy of other structures including the ear, hair, mouth, teeth, arm, trunk, or legs. The main findings can be classified as periocular, ocular, and neuro-ophthalmological abnormalities associated with Parry-Romberg syndrome.

Periocular Changes in periocular structures occur secondary to the facial atrophy exhibited in PRS. One of the most common signs is enophthalmos due to fat atrophy of retrobulbar fat tissue, changes in bony structures, or globe shrinkage (1). Hyperpigmentation or depigmentation of periocular skin may occur. Eyelids may be affected with signs including retraction, lagophthalmos, atrophy, or pseudoptosis. Upper lid pseudocoloboma may also occur (4). PRS should be considered in patients with progressive enophthalmos and eyelid alterations.

Skin hyperpigmentation/depigmentation

Eyebrow/eyelash alopecia

Eyelid retraction

Lagophthalmos

Eyelid atrophy

Pseudoptosis

Pseudocoloboma

Enophthalmos

Orbital tumors

Ocular PRS can cause a number of different pathologies in the cornea, uvea, lens, ciliary body, retina, and vitreous. Corneal band keratopathy, exposure keratopathy, reduced corneal sensation, stromal deposits, and primary corneal endothelial failure have all been reported. Refractive changes can occur as the initial sign of PRS (4). Spontaneous scleral melting has also been reported (5). Uveitis, Fuchs heterochromic iridocyclitis, and vitritis may occur. Chorioretinal changes that may occur are retinal vasculitis, telangiectasia, retinal edema, retinal detachment, retinitis pigmentosa, Coats disease, chorioretinal atrophy, and central retinal artery occlusion. Intraocular pressure may be abnormal due to ciliary body atrophy resulting in hypotony or uveitis or angle closure resulting in ocular hypertension and glaucoma (6).

Palpebral pigmentation

Band keratopathy

Exposure keratopathy

Reduced corneal sensation

Primary corneal endothelial failure

Refractive changes

Spontaneous scleral melting

Anterior uveitis

Iris atrophy

Iris crystalline deposits

Fuchs heterochromic iridocyclitis

Panuveitis

Hypotony/phthisis

Vitritis

Retinal vasculitis

Retinal pigment epithelial changes

Retinitis pigmentosa

Retinal detachment

Coats disease

Sectional chorioretinal atrophy

Central retinal artery occlusion

Neuro-ocular Thinning or fibrosis of extraocular muscles may lead to strabismus or diplopia. Papillitis or optic neuropathy, as well as anisocoria, Horner syndrome, third nerve palsy, or Adie pupil may be seen on exam.

Papillitis

Optic neuropathy

Extraocular muscle thinning

Extraocular muscle fibrosis

Strabismus

Third nerve paresis

Third nerve palsy

Horner syndrome

Adie pupil

Anisocoria

Amblyopia

Blindness

(lists derived from Fea, et al. and Bucher, et al.)

Differential diagnosis

Bell’s palsy

Linear scleroderma

Hemifacial microsomia (Goldenhar syndrome)

Post-traumatic atrophy

Partial lipodystrophy/Barraquer-Simon Syndrome

Management

Treatment is directed toward the specific symptoms of the patient and often requires a team of specialists to comprehensively treat the breadth of symptoms with which a patient may present. In addition, the success of a therapy is difficult to assess due to the disease often stabilizing spontaneously. There are no randomized controlled trials for PRS treatment, but systemic medications used to treat linear scleroderma are commonly utilized, including antimalarials, methotrexate, steroids, tetracycline, anticonvulsants, and cyclophosphamide. Ophthalmological treatment aims to stabilize or rehabilitate ocular complications and include surgical correction, penetrating keratoplasty, scleral grafting, topical steroids and mydriatics, laser coagulation, pars plana vitrectomy, or immunosuppressive therapy. Surgical reconstruction using silicone implants, muscle flap grafts, fat grafts, bone and cartilage grafts, or injectable fillers are used after stabilization of the disease to restore natural facial contour, which improves enophthalmos and pseudoptosis (2). Recent studies have shown promising results for autologous fat grafting with adipose-derived skin cells (7).

References

1. Fea AM, Aragno V, Briamonte C, Franzone M, Putignano D, Grignolo FM. Parry Romberg syndrome with a wide range of ocular manifestations: a case report. BMC Ophthalmology. 2015;15(1):119.

2. Bucher F, Fricke J, Neugebauer A, Cursiefen C, Heindl LM. Ophthalmological manifestations of Parry-Romberg syndrome. Survey of Ophthalmology. 2016;61(6):693-701.

3. Stone J. Parry-Romberg syndrome. 2006;6(3):185-8.

4. Karny H, Baum J. Refractive change as the initial sign of progressive facial hemiatrophy. American Journal of Ophthalmology. 1975;79(5):878-9.

5. Hoang-Xuan T, Foster CS, Jakobiec FA, Tauber J, de la Maza MS, Krebs W. Romberg's Progressive Hemifacial Atrophy: An Association with Scleral Melting. 1991;10(4):361-6.

6. Kini TA, Prakash VS, Puthalath S, Bhandari PL. Progressive hemifacial atrophy with ciliary body atrophy and ocular hypotony. Indian journal of ophthalmology. 2015;63(1):61-3.

7. Balan P, Gogineni SB, Shetty SR, D'Souza D. Three-dimensional imaging of progressive facial hemiatrophy (Parry-Romberg syndrome) with unusual conjunctival findings. isd. 2011;41(4):183-7.

8. Bucher F, Fricke J, Cursiefen C, Heindl LM. Trigeminal Involvement in Parry–Romberg Syndrome: An In Vivo Confocal Microscopy Study of the Cornea. Cornea. 2015;34(4).

9. Kini TA, Prakash VS, Puthalath S, Bhandari PL. Progressive hemifacial atrophy with ciliary body atrophy and ocular hypotony. Indian journal of ophthalmology. 2015;63(1):61-3.