Progressive facial hemiatrophy - a case series.

Six female patients diagnosed with Progressive Facial Hemiatrophy are presented here. The clinical and serological features are highlighted, and treatment options for the condition are discussed. We would like to highlight the need to differentiate the condition from localized scleroderma and the with limitation of its medical management.

Introduction

Progressive facial hemiatrophy (PFH) was described initially by Parry in 1825. In 1846, Romberg described the same as a syndrome. Eulenberg, in 1871, coined the name ‘progressive facial hemiatrophy’.[1] We describe a case series of six patient presenting to us who were diagnosed as having PFH. The clinical features, history, and relevant investigations including serological findings of the patients are highlighted.

Case Report

Six patients presenting to our Outpatient Department were diagnosed with Progressive Facial Hemiatrophy (PFH). The clinical features, history, and relevant investigations including serological findings of the patients are highlighted in Table 1.

Table 1

Patient demographics, clinical, and serological features

All the six patients in our series were female. There was no significant family history of similar disease in the family in any of the patients. All of them presented with complaints of hyperpigmentation and abnormal texture of the skin. Age of the patients ranged from 11 to 34 years. The age of onset of the disease ranged from eight to twenty-six years. Hyperpigmentation was seen in the patients and was a major concern for all of them. The cheek and the jaw were the predominantly involved sites in three patients. The cheek was involved in five of the patients, the forehead in two, and the nose in one. [Figures 1–4]. Evidence of cutaneous and subcutaneous atrophy was clinically seen in all the patients. Bone involvement was not clinically evident in any patient; however, the youngest patient showed minimal bone atrophy on radiography. The auto-antibody profile showed a positive screen for Anti-Nuclear-Antibodies in one patient; however, no specific positivity was seen on Anti-Nuclear-Antibody profile testing, which included — anti-single-stranded DNA (anti-ssDNA), anti-double-stranded DNA (anti-dsDNA), anti-centromere (ACA), anti -SCL-70, anti-Jo/La, and anti-u1RNP.

Figure 1

Right-sided PFA, mainly cheek and jaw

Figure 4

Left-sided PFA, mainly cheek and forehead

Right-sided PFA, mainly cheek

The different treatment options tried by the patients included topical steroids, topical vitamin E preparations, anti-malarials, and topical calcipotriene. Subjectively none of the patients felt that the treatment had caused any significant improvement. Two of the patients were referred for plastic surgery, for surgical management with autologous fat/fascial grafts, with subjectively satisfactory results.

Discussion

It has been described as a slowly progressive atrophy of the skin, subcutaneous tissue, and muscle, involving one side of the face, typically presenting during the first or second decade of life.[2] It is characterized by the unilateral atrophy of the skin, subcutaneous tissue or the underlying bony structures, often accompanied by hyperpigmentation of the skin.[3] This syndrome has many features of linear scleroderma ‘en coup de saber,’ but is distinguished by a more extensive involvement of the lower face with only slight cutaneous sclerosis. The onset typically occurs in childhood or young adult years. The exact etiology of the condition is unknown.[4]

It is often difficult to differentiate between scleroderma of the ‘en coup de sabre’ type and PFH. The most important clinical feature that differentiates both these conditions is cutaneous sclerosis. Total hemi-facial involvement, neurological features, and ocular changes are more characteristic of PFH.[5-8] Histopathological features that might contribute to differentiating the two conditions include: Connective tissue fibrosis, adnexal atrophy, and mononuclear cell infiltrates, which are present more commonly in scleroderma of the ‘en coup de sabre’.[5]

In our series we have included only those cases that did not show histological evidence of sclerosis. The youngest patient who was 11 years old had minimal bone atrophy. None of the other patients had any significant bone involvement. All the patients in our series considered the associated hyperpigmentation of the skin to be a major problem. None of the included patients had lesions at sites other than the face. All except one patient had an age of onset of less than 20 years.

The exact etiopathogenesis of PFH is not well elucidated. Hereditary factors have been postulated to be involved in the etiology of PFH. However, PFH has been reported in one of a monozygotic twin pair, suggesting that genetic factors are not involved in its etiology.[3] In our study none of the patients had any significant associated family history of a similar condition.

Cory et al, hypothesized that a noninfectious, unilateral inflammatory process, possibly associated with a chronic vasomotor disturbance and sympathetic nerve chain inflammation, was a major factor in the pathogenesis of this syndrome.[9]

There is a hypothesis that there are probably different subcategories among patients presenting with PFH. Even as some cases may be autoimmune in nature many of the cases are likely to be idiopathic and big majorities have only facial atrophy, with no evidence of eye or CNS involvement.[10]

Sahin et al, reported a case of Progressive Hemifacial Atrophy occurring in a 30-year-old woman, in whom the etiology was thought to be Lyme disease. No sure link was established between these two disease states, but their coincident occurrence in this patient was noted. The authors suggested that the etiology of the Parry-Romberg Syndrome could involve borreliosis. However, PFH has been reported from many areas, which are non-endemic for borreliosis, hence, making the significance of this association questionable.[4]

The association of idiopathic/progressive facial hemiatrophy with various auto-antibodies has been reported. However, the significance or specificity of the association is debatable, especially as many of these cases have been diagnosed as overlaps of the Parry Romberg Syndrome (PRS) and Linear Scleroderma. In the study by Garcia-de la Torre et al, in a series of PRS cases, 57% of the cases reported ANA (Anti-Nuclear Antibody) positivity. The Rheumatoid Factor was positive in 36%, anti-histone antibody positivity was seen in 21%, and anti centromere antibody positivity in 14%. They did not find any positivity for the anti-DS-DNA antibody.[11] Gonul et al, reported a case of a 21-year-old Caucasian man with hemifacial atrophy on the right side. Serological studies with anti-single-stranded DNA (anti-ssDNA), anti-double-stranded DNA (anti-dsDNA), anticentromere (ACA), and antinuclear (ANA) antibodies were conducted. Anti-dsDNA antibodies were found to be positive, but the others were negative. The rheumatoid factor (RF) was also negative.[10] Some other reports also showed positivity to anti-DS-DNA.[1213] In our series only one patient had a positive Anti-Nuclear-Antibody (ANA) screen, however, none of the patients showed specific positivity in an ANA profile test, which included — anti-single-stranded DNA (anti-ssDNA), anti-double-stranded DNA (anti-dsDNA), anticentromere (ACA), anti-SCL-70, anti-Jo/La, and anti-u1RNP.

Management of PFH comprises of a long-term follow-up of somatic disorders, and prevention of psychological problems. Treatment of PFH is symptomatic and mainly consists of plastic surgery after the disease activity has stopped.[3] Various modalities of treatment have been tried for PFH, with varying results; however, very often these are prescribed under the assumption of associated localized scleroderma. These include intralesional or systemic products, such as, glucocorticoids, vitamin E, vitamin D derivatives, phenytoin, retinoids, penicillin, griseofulvin, interferons, D-penicillamine, antimalarials, and phototherapy.[14] Surgical treatment is probably the only option in cases of definite PFH, Parry-Romberg Syndrome or Atrophic stages of localized scleroderma. Various surgical options used with varying results include — simple/composite grafts (dermal and dermal-fat grafts), local or free flap surgery, injection of autologous tissues/lipofilling, paraffin, silicone, or polyalkylimide gel/poly-L-lactic acid.[15-17] In our case series different medical options had been tried, including topical/intralesional steroids, anti-malarials, topical vitamin E preparations, and topical Vitamin D analogs. However, none of the patients had any significant improvement with medical management. Two of the patients had been referred for plastic surgery, as both had deep subcutaneous involvement (without bone involvement). Both the patients had a fat/fascial graft done, with satisfactory cosmetic results.

Conclusion

Idiopathic Progressive Facial Hemiatrophy is a distinct entity, which is difficult to treat. The exact etiopathogenesis of the condition has still not been elucidated clearly. It is essential to differentiate the condition from localized scleroderma, as the medical options used in the latter may have no benefits in PFH. Patient counseling is essential, so that the patients understand the nature of the disease and the prognosis. Surgical treatment may be preferred in patients with deeper involvement and a stable disease.