[Localized scleroderma]. / Lokalisierte Sklerodermie.

Localized scleroderma (LS), also called circumscribed scleroderma or morphea, comprises a heterogeneous group of diseases that can be classified into four subtypes: limited, linear, generalized, and mixed LS. All manifestations are primarily due to chronic progressive fibrosis of the skin or structures close to the skin. Involvement of internal organs or the transition to systemic sclerosis is excluded by definition. A distinction is made between forms that primarily affect the skin (up to the dermis) or that severely involve subcutaneous fat tissue, muscle fascia or muscles. A detailed examination is required for clinical diagnosis. In order to improve comparability of findings, photo documentation and the use of clinical scores should be carried out. For superficial subtypes the use of topical glucocorticosteroids, calcineurin inhibitors or phototherapy is initially recommended, whereas for severe forms with deep involvement or overall therapy refractoriness, the diagnosis should first be expanded and systemic therapy initiated at an early stage. Especially, in cross joint or extremity-dominant forms of linear LS or in cases with head and neck involvement, such as en coup de sabre, Parry-Romberg syndrome and other subtypes with a prominent musculoskeletal affection, an MRI examination should be arranged. Depending on location, an ophthalmological, neurological, orthodontic, rheumatological or orthopedic consultation may be necessary. For systemic therapy, methotrexate alone or in combination with systemic glucocorticosteroids as pulse therapy is recommended as first-line treatment.

Treatment of hemifacial spasm in patient with hemifacial atrophy using combination therapy (ultrasound therapy and TENS): a case report

A 19-year-old male patient presented with facial hemi-atrophy with unilateral spasms of the masseter and temporalis muscles. Ultrasound therapy and Transcutaneous Electric Nerve Stimulation therapy, known as combination therapy, were given on alternate days for 2 weeks. At the end of 2 weeks of combination therapy the patient reported a drastic reduction in the number of episodes of muscle spasm. The visual analog scale score for tenderness of the masseter and temporalis was also markedly reduced. No one has previously used combination therapy for the treatment of facial hemi-atrophy with hemi-facial spasms. The encouraging results of the combination therapy has prompted us to document this study.

Síndrome de Parry-Romberg. presentación de un caso / Parry-Romberg's Syndrome. case report

Se presenta el caso de un paciente masculino de 62 años de edad, de raza mestiza, de procedencia urbana que acude a consulta de cirugía maxilofacial por presentar en el lado derecho de la cara una lesión. Se le diagnostica síndrome de Parry-Romberg y, luego de los exámenes complementarios, se decide tratamiento conservador con uso de vitaminoterapia (vitaminas A, del complejo B y C), teniendo una evolución satisfactoria por más de 10 años. Por lo poco frecuente y evolución tórpida de esta enfermedad se decide presentar el caso, con el objetivo de dar a conocer nuestra experiencia(AU)

The case of a 62-year-old masculine patient is presented, mixed race, urban origin that goes to the consultation of maxillofacial surgery for presenting in the right side of the face a lesion. He is diagnosed with Parry-Romberg's syndrome and after the complementary exams, is decided a conservative treatment with the vitamin therapy use (vitamins A, B and C complex), having a satisfactory evolution for more than 10 years. For the infrequency and torpid evolution of this illness doctors decide to present this case, with the objective of sharing theirs experience(AU)

Case of progressive facial hemiatrophy with cervical sympathetic hyperactivity as underlying aetiology.

OBJECTIVE: We report a case of progressive facial hemiatrophy with cervical sympathetic hyperactivity as a possible underlying aetiology, based on clinical findings, three-dimensional computed tomography and thermographic imaging. METHODS: We present a case report in which we describe the investigation and clinical course of progressive facial hemiatrophy, and we also review the world literature on this condition. RESULTS: To our knowledge, this is the first report in the world literature of progressive facial hemiatrophy with cervical sympathetic hyperactivity indicated as a possible underlying aetiology, based on clinical findings, three-dimensional computed tomography and thermographic imaging. CONCLUSION: This syndrome may lead to atrophy of the subcutaneous adipose tissue with hyperfunction of the vegetative system. Although this is a rare syndrome, otolaryngologists should be aware of its symptoms, aetiology and treatment.

The history of injectable silicone fluids for soft-tissue augmentation.

BACKGROUND: The debate over the legitimacy of silicone as a safe tool for soft-tissue augmentation has spanned well over half a century. Proponents concede that injections of questionable purity and/or of massive quantities have produced unfavorable outcomes. They assert that in experienced hands with "injectable-grade" silicone, there are very few problems. Despite these claims, the literature is replete with disastrous outcomes following silicone fluid injection, often many years after the initial treatment. METHODS: An extensive review of the English-language literature was conducted using MEDLINE. RESULTS: A comprehensive review of injectable silicones was completed, revealing the origins, misuses, early clinical trials, and support for and against the injection of silicone fluids for the augmentation of soft tissues. CONCLUSIONS: A better understanding of the history of injectable silicone fluids for soft-tissue augmentation can give insight into the pitfalls and complications surrounding its use. There has been an evolution in the technique and type of products used for soft-tissue augmentation. In its current use, silicone oil for permanent soft-tissue augmentation could be a very powerful tool. There is some literature that supports the use of a small amount of purified, high-viscosity silicone oil; however, there has not been a single longitudinal study to date with appropriate follow-up data. The unanswered question remains: Are the risks worth the potential benefits of silicone oil as a permanent filler?

Parry-Romberg syndrome associated with borreliosis: could photochemotherapy halt the progression of the disease?

Parry-Romberg syndrome (PRS) or progressive hemifacial atrophy is a rare entity characterized by unilateral atrophy of the skin, subcutaneous tissue and sometimes bone and cartilage. Although this syndrome has overlapping features of scleroderma 'en coup de sabre', it shows little or no sclerosis and may affect the entire distribution of the trigeminal nerve including the eye and tongue. As the pathogenesis is unknown, no effective therapy exists. We present here the third case of PRS associated with borreliosis and more interestingly two cases whose progressive course have been stabilized with gel PUVA therapy.

Hemiatrofia facial y lipoinyección: una alternativa terapéutica / Facial hemiatrophy and lipoinyection: a therapeutic alternative

Se presenta el caso clínico de una paciente de 27 años, portadora de una hemiatrofia facial izquierda, a la cual se le realizó plastia facial mediante lipoinyección de tejido adiposo, intervención quirúrgica que se llevó a cabo sin complicaciones. Presentó reabsorción parcial del tejido graso implantado, por lo cual se repitió el procedimiento en 2 oportunidades (12 y 60 meses después). El resultado estético final excelente, con la consiguiente mejoría de la calidad de vida de la paciente. Después de 72 meses de observación, a partir del primer procedimiento, la paciente mantiene el efecto estético logrado con el injerto adiposo, el cual se ha incrementado, asociado a un aumento del peso corporal con acumulación grasa en la pared abdominal. Esta situación corroboraría clínicamente la teoría de la mantención de los caracteres genéticos de un injerto en el área receptora. Consideramos que la lipoinyección constituye una alternativa terapéutica válida en la corrección de esta patología.

Parry-Romberg syndrome: intracranial MRI appearances.

AIM: To gain further insight into the pathogenesis of Parry-Romberg syndrome, a sporadic disease of unknown aetiology characterized by progressive wasting of one side of the face. METHOD: Cranial MRI was performed in 10 patients with Parry-Romberg syndrome. The central nervous system findings are correlated to clinical findings and a review of the literature. RESULTS: Three patients with a history of migraine had abnormal brain findings confined to the cerebral hemisphere ipsilateral to the facial hemiatrophy. Two patients without CNS symptoms had intracranial changes, one ipsilateral, the other both ipsilateral and contralateral to the facial hemiatrophy, on MRI. These changes consisted of either intracerebral atrophy or white matter hyperintensity. Five patients without CNS symptoms had no pathological intracranial MRI appearances. CONCLUSION: A significant number of patients with Parry-Romberg syndrome may have underlying brain involvement. These findings are consistent with previous reports.

Síndrome de Parry Romberg com esclerodermia e uveíte / Parry Romberg Syndrome with scleroderma and uveitis

Objetivos: Relatar um caso de uma paciente de 17 anos com uveíte e esclerodermia com visão preservada, apesar da hipotensão e conseqüente maculopatia. Local: Serviço de uveíte do Hospital São Geraldo - UFMG. Métodos: Paciente jovem feminina acompanhada há 4 anos no serviço de uveíte com quadro de esclerodermia e uveíte associada. Resultados: Paciente examinada na segunda década de vida, com quadro de Síndrome de Parry Romberg com esclerodermia e visão preservada. Conclusão: A Síndrome de Parry Romberg leva à atrofia do bulbo ocular e amaurose. Maiores estudos do comprometimento do corpo ciliar e do trato uveal deverão ser feitos com o objetivo de conter a progressão da doença.

Hemiparkinsonism-somatic hemiatrophy syndrome.

PURPOSE: This paper highlights the hemiparkinsonism-hemiatrophy (HPHA) syndrome as a unique presentation of the parkinsonian state. Clinically relevant diagnostic and treatment aspects are reviewed. METHOD: We report a case of HPHA, in a 21-year-old, otherwise healthy, woman. Clinical and radiographic features of our case are presented. We also review the current literature on the clinical, radiological and pathophysiological mechanisms of HPHA. RESULTS: In our case, despite the lack of benefit from anticholinergics and dopamine agonists (the patient declined treatment with levodopa), the patient showed a dramatic improvement with subthalamic nucleus stimulator (STN) implantation. There are no reported cases of use of STN stimulator in HPHA. CONCLUSION: Hemiparkinsonism-hemiatrophy is a distinct entity that may be clinically and pathogenetically different from idiopathic Parkinson's disease; hence, HPHA needs to be considered as a possible syndrome in patients that have persistent unilateral parkinsonism. As medications are reported to be unhelpful in HPHA cases, early surgical intervention may be an option, such as in our case.

Startle-induced epilepsy in a patient with epidermal nevus syndrome.

Startle-induced epilepsy was observed in a 5-year-old boy with epidermal nevus syndrome. He manifested linear nevus on the face and neck, mild mental retardation, and right hemiparesis. Massive myoclonus, followed by tonic seizures, had been triggered by unexpected auditory stimuli since 3 years of age. The startle-induced seizures were the only epileptic manifestation. Interictal EEG occasionally depicted spontaneous focal spikes and waves in the left frontotemporal area, and ictal EEG depicted vertex spikes and then diffuse slow spike-and-wave complex bursts. Left frontal and perisylvian cortical atrophy and a white matter abnormality in the left frontal area were revealed by magnetic resonance imaging. Single photon emission computed tomography demonstrated diffuse low perfusion in the left cerebral hemisphere. Lower amplitude potentials in the left cerebral cortex were evident during somatosensory evoked potential evaluation. These results indicate that hemispheric dysfunction could cause startle-induced epilepsy in this patient.

Hemiatrofia facial progresiva y esclerodermia en golpe de sable: presentación clínica y curso de acuerdo a su presentación en la niñez o adultez joven / Progressive facial hemiotrophy and scleroderma en coup de sabre: clinical presentation and course as related to the onset in early childhood and young adults

Los cambios escleroatróficos de la cara reconocidos como hemiatrofia facial progresiva (HFP) o esclerodermia en golpe de sable con esclerosis de los tejidos profundos, fueron estudiados a lo largo varios años (un caso por más de 10 años) en 56 niños, en los cuales la enfermedad comenzó antes de los 14 años, y 15 adultos jóvenes en los cuales el proceso apareció más tardíamente. Encontramos que los defectos musculoesqueléticos y las anormalidades neurológicas ocurrían más frecuentemente en el grupo más joven y que los casos con epilepsia y anormalidades neurológicas estaban precedidos frecuentemente por traumas cefálicos. Confirmamos una relación cercana entre la esclerodermia en golpe de sable y la HFP por las características de las mismas y por la coexistencia con lesiones de esclerodermia en otras localizaciones (37 por ciento de pacientes entre los más jóvenes y 20 por ciento en el de los mayores). Concluimos que la HFP debe ser considerada como una forma de esclerodermia primaria profunda y localizada. Sin embargo, en aquellos casos infrecuentes asociados a anormalidades cerebrales severas y sólo leve atrofia cutánea, un posible compromiso primario cerebral no puede ser excluido (AU)

Hemiatrofia facial progresiva y esclerodermia en golpe de sable: presentación clínica y curso de acuerdo a su presentación en la niñez o adultez joven / Progressive facial hemiotrophy and scleroderma en coup de sabre: clinical presentation and course as related to the onset in early childhood and young adults

Los cambios escleroatróficos de la cara reconocidos como hemiatrofia facial progresiva (HFP) o esclerodermia en golpe de sable con esclerosis de los tejidos profundos, fueron estudiados a lo largo varios años (un caso por más de 10 años) en 56 niños, en los cuales la enfermedad comenzó antes de los 14 años, y 15 adultos jóvenes en los cuales el proceso apareció más tardíamente. Encontramos que los defectos musculoesqueléticos y las anormalidades neurológicas ocurrían más frecuentemente en el grupo más joven y que los casos con epilepsia y anormalidades neurológicas estaban precedidos frecuentemente por traumas cefálicos. Confirmamos una relación cercana entre la esclerodermia en golpe de sable y la HFP por las características de las mismas y por la coexistencia con lesiones de esclerodermia en otras localizaciones (37 por ciento de pacientes entre los más jóvenes y 20 por ciento en el de los mayores). Concluimos que la HFP debe ser considerada como una forma de esclerodermia primaria profunda y localizada. Sin embargo, en aquellos casos infrecuentes asociados a anormalidades cerebrales severas y sólo leve atrofia cutánea, un posible compromiso primario cerebral no puede ser excluido

Pathophysiology of hemimasticatory spasm.

Two patients aged 21 and 50 years presented with facial hemiatrophy and unilateral spasms of the masticatory muscles. Masticatory muscle biopsy showed normal findings in both patients and facial skin biopsy specimens only showed atrophy, although morphoea (localised facial scleroderma) had been diagnosed nine years previously in the second patient. The involuntary movements consisted of brief twitches and prolonged contractions clinically and electromyographically similar to those of hemifacial spasm and cramps. The jaw jerk and the silent periods were absent in the affected muscles. Direct stimulation of the muscle nerve and transcranial stimulation of the trigeminal root demonstrated slowing of conduction and after-activity due to autoexcitation. Observations in other reported cases and these two patients suggest that hemimasticatory spasm is produced by ectopic activity secondary to focal demyelination of the trigeminal motor nerve fibres. The proposed cause of the neuropathy is focal damage to the masticatory nerves caused by compression, possibly resulting from the deep tissue changes that occur in facial hemiatrophy.