Progressive hemifacial atrophy: a review

Abstract

BackgroundProgressive Hemifacial Atrophy (PHA) is an acquired, typically unilateral, facial distortion with unknown etiology. The true incidence of this disorder has not been reported, but it is often regarded as a subtype of localized scleroderma. Historically, a debate existed whether PHA is a form of linear scleroderma, called morphea en coup de sabre (ECDS), or whether these conditions are inherently different processes or appear on a spectrum (; Adv Exp Med Biol 455:101–4, 1999; J Eur Acad Dermatol Venereol 19:403–4, 2005). Currently, it is generally accepted that both diseases exist on a spectrum of localized scleroderma and often coexist.The pathogenesis of PHA has not been delineated, but trauma, autoimmunity, infection, and autonomic dysregulation have all been suggested. The majority of patients have initial manifestations in the first two decades of life; however, late presentations in 6th and 7th decades are also described [J Am Acad Dermatol 56:257–63, 2007; J Postgrad Med 51:135–6, 2005; Neurology 61:674–6, 2003]. The typical course of PHA is slow progression over 2-20 years and eventually reaching quiescence.Systemic associations of PHA are protean, but neurological manifestations of seizures and headaches are common [J Am Acad Dermatol 56:257–63, 2007; Neurology 48:1013–8, 1997; Semin Arthritis Rheum 43:335–47, 2013]. As in many rare diseases, standard guidelines for imaging, treatment, and follow-up are not defined.MethodsThis review is based on a literature search using PubMed including original articles, reviews, cases and clinical guidelines. The search terms were “idiopathic hemifacial atrophy”, “Parry-Romberg syndrome”, “Romberg’s syndrome”, “progressive hemifacial atrophy”, “progressive facial hemiatrophy”, “juvenile localized scleroderma”, “linear scleroderma”, and “morphea en coup de sabre”. The goal of this review is to summarize clinical findings, theories of pathogenesis, diagnosis, clinical course, and proposed treatments of progressive hemifacial atrophy using a detailed review of literature.Inclusion- and exclusion criteriaReview articles were used to identify primary papers of interest while retrospective cohort studies, case series, case reports, and treatment analyses in the English language literature or available translations of international literature were included.

Late progression of neurological symptoms and MRI T2 hyperintensities in Parry-Romberg syndrome

“…However, late onset until the sixth and seventh decades of life has also been described 1 3. Our patient showed a comparatively late progression, more than 40 years after disease onset.…”

“…Typically, PRS shows initial manifestation in the first 20 years of life and then progresses slowly over the following 2–20 years before reaching quiescence 3. However, late onset until the sixth and seventh decades of life has also been described 1 3.…”

Extra-Cephalic Involvement in the Syndrome of Parry Romberg

“…The main objective is to stop the progression of atrophy. Once the disease is stabilized, other aesthetic therapies can be used to repair tissue damage and decrease facial asymmetry [2,3]. The etiology of the SPR is still poorly understood and controversial.…”

“…Some authors believe that this syndrome is a form of scleroderma, while others think it is a different entity [1]. However, many theories of the pathogenic mechanism explaining amyotrophy have been raised: genetic predisposition, trauma, infectious disorders especially in Borrelia burgdorferi, sympathetic dysfunction, vascular abnormalities and immunological disorder theory [3]. The latter is strongly referred to in our case, in front of the association of the SPR to the vitiligo, the presence of anti-nuclear antibodies, and the clinical improvement under immunosuppressors.…”

Localized Scleroderma: Predisposing and Triggering Factors

“…However, the etiology of the disease remains not yet entirely understood [1]. Many factors are being discussed as provocative for the occurrence of scleroderma: genetic factors, trauma, viral & bacterial infections, toxic substances or pharmaceutical agents [2,3].…”