Dataset Information

Bilateral Eyebrow Sclerosis: A New Clinical Entity.

ABSTRACT: We report a man with sparse eyebrows and recurrent bilateral subcutaneous nodules beneath the eyebrows. Their histopathologic features were sclerosis of a subcutaneous lesion. The proliferation of muscle was not obvious and inflammatory cell infiltration was inconspicuous, but some dilated capillaries were noted. Collagen was regularly interlaced, thickened, and hyalinized with dispersed fibroblasts. Various skin tumors can occur on adult faces, but this presentation, to our knowledge, was unique and could not be characterized as a known condition. Plastic surgeons, dermatologists, and pathologists may encounter similar conditions, so it should be considered as a new clinical entity called bilateral eyebrow sclerosis. This may be of comfort to patients with similar conditions. Moreover, we propose enlarged resection to include the skin surface and underlying muscles as an effective treatment for recovery of the eyebrows and prevention of recurrence.

SUBMITTER: Ueno K

PROVIDER: S-EPMC7339354 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Bilateral Eyebrow Sclerosis: A New Clinical Entity.

Ueno Kazuki K Kunimoto Kayo K Iwahashi Yoshifumi Y Murata Shin-Ichi SI Yamamoto Yuki Y Jinnin Masatoshi M Asamura Shinichi S

Plastic and reconstructive surgery. Global open 20200615 6

We report a man with sparse eyebrows and recurrent bilateral subcutaneous nodules beneath the eyebrows. Their histopathologic features were sclerosis of a subcutaneous lesion. The proliferation of muscle was not obvious and inflammatory cell infiltration was inconspicuous, but some dilated capillaries were noted. Collagen was regularly interlaced, thickened, and hyalinized with dispersed fibroblasts. Various skin tumors can occur on adult faces, but this presentation, to our knowledge, was uniqu ...[more]

PMID: 32766048

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Project description:Amyotrophic lateral sclerosis, when viewed as a biological entity rather than a clinical syndrome, probably evolves along a continuum, with the initial clinically silent phase eventually evolving into clinically manifest amyotrophic lateral sclerosis. Since motor neuron degeneration is incremental and cumulative over time, it stands to reason that the clinical syndrome of amyotrophic lateral sclerosis is probably preceded by a prodromal state characterized by minor motor abnormalities that are initially insufficient to permit a diagnosis of amyotrophic lateral sclerosis. This prodromal period, however, is usually missed, given the invariably long delays between symptom onset and diagnostic evaluation. The Pre-Symptomatic Familial ALS Study, a cohort study of pre-symptomatic gene mutation carriers, offers a unique opportunity to observe what is typically unseen. Here we describe the clinical characterization of 20 pre-symptomatic mutation carriers (in SOD1, FUS and C9orf72) whose phenoconversion to clinically manifest disease has been prospectively studied. In so doing, we observed a prodromal phase of mild motor impairment in 11 of 20 phenoconverters. Among the n = 12 SOD1 A4V mutation carriers, phenoconversion was characterized by abrupt onset of weakness, with a short (1-3.5 months) prodromal period observable in a small minority (n = 3); the observable prodrome invariably involved the lower motor neuron axis. By contrast, in all n = 3 SOD1 I113T mutation carriers, diffuse lower motor neuron and upper motor neuron signs evolved insidiously during a prodromal period that extended over a period of many years; prodromal manifestations eventually coalesced into a clinical syndrome that is recognizable as amyotrophic lateral sclerosis. Similarly, in all n = 3 C9orf72 hexanucleotide repeat expansion mutation carriers, focal or multifocal manifestations of disease evolved gradually over a prodromal period of 1-2 years. Clinically manifest ALS also emerged following a prodromal period of mild motor impairment, lasting >4 years and ∼9 months, respectively, in n = 2 with other gene mutations (SOD1 L106V and FUS c.521del6). On the basis of this empirical evidence, we conclude that mild motor impairment is an observable state that precedes clinically manifest disease in three of the most common genetic forms of amyotrophic lateral sclerosis (SOD1, FUS, C9orf72), and perhaps in all genetic amyotrophic lateral sclerosis; we also propose that this might be true of non-genetic amyotrophic lateral sclerosis. As a diagnostic label, mild motor impairment provides the language to describe the indeterminate (and sometimes intermediate) transition between the unaffected state and clinically manifest amyotrophic lateral sclerosis. Recognizing mild motor impairment as a distinct clinical entity should generate fresh urgency for developing biomarkers reflecting the earliest events in the degenerative cascade, with potential to reduce the diagnostic delay and to permit earlier therapeutic intervention.

Dataset Information

Bilateral Eyebrow Sclerosis: A New Clinical Entity.

Publications

Bilateral Eyebrow Sclerosis: A New Clinical Entity.

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