[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.

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.

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 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.