Progressive hemifacial atrophy: historical review and actual features related to a new classification of facial hypoplasia and atrophy

Abstract

progressive hemifacial atrophy, described initially by Parry and Romberg, is reviewed in terms of etiopathogenesis and clinical features. The purpose is to clarify the variegated nature of this syndrome and to distinguish it from other forms of atrophy affecting the face, principally the soft tissues. The authors propose a new general classification of hypoplasia and atrophy of the face.Progressive hemifacial atrophy (PHA) is an acquired syndrome affecting peculiarly the subcutaneous fatty tissue together with skin, mimic musculature, bone and cartilage in that order of frequency. The etiology is unknown but neurodystrophic and sclerodermic theories have been suggested. The incidence in the population is at present unknown. Female/male ratio is 3 : 2 according to Rogers, while Archambault and Fromm, Mussinelli et al. and Rees reported ratios less than 1.2:1. Other authors, mainly in early papers, reported a very high occurrence in women [2,56,71,73]. Nerobyeyev et al., in 1990, noted a ratio higher than 4:1 [59]. The left side of the face is not significantly more affected than the right side; bilateral incidence is almost 5% [56, 72], but according to Rees bilateral involvement in Scleroderma or Romberg's atrophy is "'more unique than rare" [71]. The disease starts in the first or second decade of life (mean age: 5 15 yrs. ; range of 1-70 yrs.); and progresses slowly for 2-10 yrs. with long periods of remission. HistoryThe clinical features were described by Parry and Romberg [64,74]. It was called "progressive facial hemiCorrespondence to .' Dr. R. Roddi,

Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with aCRB1mutation

“…Hemifacial atrophy progresses over a period of 2 to 10 years, which is regarded as the progressing phase; subsequently, the condition generally stabilizes, which is regarded as the stable phase. 17 , 18 The medical history of our patient was therefore consistent with the epidemiological and clinical characteristics of the disease. Notably, differential diagnoses for PHA include other forms of juvenile localized scleroderma, first and second branchial arch syndromes, other craniofacial dysplasias, and enophthalmos caused by eye trauma.…”

Progressive hemifacial atrophy: a review

“…After initial presentation, the disorder is usually slowly progressive but self-limited [ 12 ]. The disease typically “burns out” in 2-10 years before becoming stationary [ 16 , 20 , 21 ]. While a majority of patients experience halting of the facial atrophy, in the aforementioned global internet survey, 26% of patients reported disease acceleration.…”

“…Hence, a resemblance of this furrow to a “stroke from a sword”. (Figure 2 a and b) While the two may coexist in the same patient, (Figure 3 a and b) clinical features are typically used to distinguish PHA from ECDS [ 12 , 21 , 26 ].

Figure 2 Morphea En Coup de Sabre.

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“…Since the review focuses on English literature, several large studies have been left out including 100 cases from Mussinelli, Magri, and Origlio [ 156 , 157 ], and large German reviews by Möbius in 1895, [ 158 ] Marburg [ 159 ], and Cassirer in 1912 [ 160 ] were excluded. Multiple international case series were reviewed by Roddi et al, in 1994 [ 21 ], Archambault and Fromm in 1932, [ 18 ] Wartenberg in 1945 [ 75 ], and Blair O. Rogers in 1964 [ 16 ]. These publications were reviewed in detail.…”