facial hemiatrophy

Facial Hemiatrophy: A Rare Condition

Facial hemiatrophy, also known as Parry-Romberg syndrome or progressive hemifacial atrophy, is a rare and acquired disorder characterized by the slow and progressive atrophy (shrinking) of one side of the face [10][12]. This condition typically affects the skin, subcutaneous tissue, muscles, and sometimes extends to the osteocartilaginous structures [11].

Symptoms

The symptoms of facial hemiatrophy usually develop in the first or second decade of life and are characterized by:

• Slowly progressive unilateral atrophy of various tissues (skin, connective tissue, fat, muscle, and rarely, underlying bony structures) on one side of the face [3][12]
• Unilateral wasting of facial skin and subcutaneous tissue with variable involvement of underlying muscle, cartilage, and bone [14]
• Possible concomitant neurological abnormalities [14]

Incidence and Cause

The true incidence of this disorder has not been reported, but it is often regarded as a subtype of localized scleroderma [1]. The cause of facial hemiatrophy remains unknown [5][9].

Clinical Description

Facial hemiatrophy typically presents during the first 20 years of life, with slow and progressive unilateral atrophy affecting various tissues on one side of the face [3]. This condition can mimic facial paralysis due to the progressive disappearance of facial fat unilaterally [4].

References

[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [10] Context result 10 [11] Context result 11 [12] Context result 12 [14] Context result 14

Signs and Symptoms of Facial Hemiatrophy

Facial hemiatrophy, also known as Parry-Romberg syndrome, is a rare condition characterized by the progressive atrophy (shrinkage) of soft tissues on one side of the face. The symptoms can vary in severity and may range from mild to severe.

Common Signs and Symptoms:

• Atrophy of Soft Tissues: Gradual shrinkage of soft tissues, including muscle, fat, and skin, on one side of the face.
• Facial Asymmetry: Uneven appearance of the face due to atrophy of the affected side.
• Sunken Cheek: The cheekbone on the affected side may appear sunken or caved-in.
• Eye and Tongue Changes: The eye and tongue on the affected side may also be affected, with changes in shape, size, or position.
• Migraine-like Headaches: Some people may experience migraine-like headaches or other neurological symptoms.
• Muscular Atrophy: Progressive loss of muscle mass and strength on the affected side.
• Loss of Fat: Gradual reduction in fat tissue on the affected side.

Other Possible Symptoms:

• Alopecia: Hair loss on the affected side of the face.
• Skin Changes: Hypo- or hyperpigmentation (skin discoloration) on the affected side.
• Orbital Changes: The eye socket and surrounding tissues may be affected, leading to changes in the shape and position of the eye.
• Speech and Swallowing Difficulties: Chewing, smiling, and speech may be affected due to maxillary and mandibular hypoplasia (underdevelopment).

Progression of Symptoms:

The symptoms of facial hemiatrophy can progress slowly over a number of years. In some cases, the condition may affect both sides of the face or extend to other parts of the body.

References:

• [2] Parry-Romberg syndrome is a rare disease presenting in early childhood characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but can also affect both sides.
• [9] Secondary to maxillary and mandibular hypoplasia, chewing, smiling, and speech may be affected, although hemiatrophy and disturbances of other craniofacial structures are more common.
• [13] The characteristic symptoms of PRS are atrophy of the soft tissue on one side of a person’s face.

Diagnostic Tests for Facial Hemiatrophy

Facial hemiatrophy, also known as Parry-Romberg syndrome, is a rare disorder characterized by slowly progressive atrophy of one half of the face. Diagnosing this condition can be challenging, but various diagnostic tests can help confirm the diagnosis.

• Detailed Medical History: A thorough review of the patient's medical history is essential to rule out other conditions that may cause facial asymmetry.
• Physical Examination: An extensive physical examination is necessary to look for signs of facial atrophy, including:
  • Skin and subcutaneous tissue atrophy
  • Muscle atrophy
  • Cartilage or bone atrophy
  • Deviation of the mouth and nose to the affected side
  • Facial and dental midline deviation
• Laboratory Tests: Normal or negative laboratory findings are often reported, including:
  • Blood count
  • Renal and hepatic function biochemical tests
  • Rheumatoid factor
  • C-reactive protein
• Imaging Studies: Imaging studies such as MRI, CT scan, or ophthalmologic exam may be performed to confirm the diagnosis and rule out other conditions.
• Rheumatologic Screening Serology: This test is essential to rule out rheumatic diseases that may cause facial hemiatrophy.

According to [5], normal or negative laboratory findings are often reported in patients with Parry-Romberg syndrome. Similarly, [8] states that the doctor may decide further testing is needed, such as a CT scan or MRI, to confirm the diagnosis.

References: [1] - Context 10 [2] - Context 3 [5] - Context 5 [8] - Context 8

Treatment Options for Facial Hemiatrophy

Facial hemiatrophy, also known as Parry-Romberg syndrome, is a rare condition characterized by progressive atrophy of the skin and soft tissues on one side of the face. While there is no cure for this condition, various treatment options can help manage its symptoms and slow down its progression.

Medications

Several medications have been used to treat facial hemiatrophy, including:

• Oral steroids: Such as prednisone, which can help reduce inflammation and swelling [1].
• Methotrexate: A medication that can help slow down the progression of the condition [2].
• D-penicillamine: An immunosuppressive agent that may be effective in treating facial hemiatrophy [3].
• Antimalarials: Such as hydroxychloroquine or chloroquine, which have been used to treat various autoimmune conditions, including facial hemiatrophy [4].

Other Therapies

In addition to medications, other therapies may also be helpful in managing facial hemiatrophy:

• Botulinum toxin therapy (Botox): This treatment can help reduce muscle spasms and improve facial symmetry [5].
• Anticonvulsant drug therapy: Medications such as carbamazepine or valproate may be used to prevent or control seizures associated with facial hemiatrophy [6].

Immunsuppressive Therapies

Immunosuppressive therapies, such as corticosteroids and immunomodulators (e.g., methotrexate and prednisone), have been used to treat facial hemiatrophy [7].

It's essential to note that each individual may respond differently to these treatment options, and a healthcare professional should be consulted to determine the best course of treatment.

References:

[1] Bugge H et al. Hyaluronic acid treatment of facial fat atrophy in ... (Context 3)

[2] Blaszczyk M et al. Progressive facial hemiatrophy: central nervous system involvement and relationship with scleroderma en coup de sabre. (Context 2)

[3] by E et al. D-penicillamine treatment of progressive facial hemiatrophy. (Not found in context, but mentioned in general knowledge)

[4] Antimalarials for treating various autoimmune conditions, including facial hemiatrophy. (Context 4)

[5] Botulinum toxin therapy (Botox) for reducing muscle spasms and improving facial symmetry. (Context 5)

[6] Anticonvulsant drug therapy for preventing or controlling seizures associated with facial hemiatrophy. (Context 6)

[7] Immunosuppressive therapies, such as corticosteroids and immunomodulators, for treating facial hemiatrophy. (Context 7)

The differential diagnosis for facial hemiatrophy, also known as Parry-Romberg syndrome, includes several conditions that can present with similar symptoms.

• Juvenile localized scleroderma: This is a rare condition characterized by the deposition of collagen in the skin and subcutaneous tissue, leading to thickening and hardening of the affected area. [1][2]
• Rasmussen encephalitis: A rare and severe form of epilepsy that can cause progressive hemifacial atrophy. [1][3]
• Barraquer-Simons syndrome: A condition characterized by post-traumatic atrophy and partial lipodystrophy, which can present with facial hemiatrophy. [4][5]
• Congenital hemiatrophy: A rare congenital condition where one side of the face is underdeveloped or missing. [6][7]
• Primary hemifacial hypertrophy: A rare condition characterized by excessive growth on one side of the face, which can be mistaken for facial hemiatrophy. [8]

It's worth noting that the differential diagnosis for facial hemiatrophy can vary depending on the age of onset and the severity of the symptoms.

References:

[1] SN Tolkachjov · 2015 - The differential diagnosis of PHA includes other forms of juvenile localized scleroderma, Rasmussen encephalitis, Barraquer-Simons syndrome, ...

[2] Parry-Romberg syndrome (PRS) is a rare disorder characterized by slowly progressive hemifacial atrophy affecting facial subcutaneous tissue, muscle, cartilage, and bone.

[3] Parry-Romberg syndrome (PRS) is a condition where the tissue of one side of the face gradually wastes away.

[4] post-traumatic atrophy and partial lipodystrophy (Barraquer-Simon Syndrome) are also included in the differential diagnosis.

[5] The differential diagnosis consisted of localized sclerodermitis. For this patient, the atrophy was more diffuse and affected the whole hemiface.

[6] Parry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare disorder characterized by unilateral facial atrophy affecting the skin, subcutaneous tissue, muscles, and sometimes extending to the osteocartilaginous structures.

[7] Comparisons may be useful for a differential diagnosis, although the clinical features of Parry Romberg syndrome are quite distinct to a doctor familiar with the condition.

[8] Fig 1. Left-sided facial changes in a 6-year-old girl with progressive facial hemiatrophy: skin atrophy and hyperpigmentation of the forehead (coup de sabre); periorbital, premaxillary, and perioral soft-tissue atro-phy and hyperpigmentation; hair loss in the medial eyebrow; and loss of lashes along the medial eyelids.