Scleroderma in Children and Adolescents: Localized Scleroderma and Systemic Sclerosis.

Scleroderma is a rare disease that has two main forms: localized scleroderma (LS) and systemic sclerosis (SSc). Both are chronic diseases, can present in different patterns (subtypes), and are associated with extracutaneous involvement in pediatric patients. Morbidity and mortality is much worse for juvenile SSc with patients at risk for life-threatening lung, heart, and other visceral organ fibrosis and vasculopathy. Mortality is extremely rare in juvenile LS, but morbidity is common, with patients at risk for severe disfigurement and functional impairment. Scleroderma treatment is directed towards controlling inflammation and managing specific problems. Early diagnosis can greatly improve outcome.

Changes in Cutaneous Gene Expression after Microvascular Free Tissue Transfer in Parry-Romberg Syndrome.

BACKGROUND: Parry-Romberg syndrome is an enigmatic craniofacial disorder characterized by progressive facial atrophy. The pathogenesis and molecular mechanisms governing Parry-Romberg syndrome have never before been described. The purpose of the current study was twofold: (1) to begin to elucidate the pathophysiology of this disease using next-generation RNA sequencing and (2) to evaluate the effect of surgical treatment on gene expression. METHODS: Patients with Parry-Romberg syndrome underwent microvascular free tissue transfer to the face to address contour deformity in both active and burned out disease. Tissue samples were collected for analysis at the time of initial microvascular free tissue transfer, and 6 months later at a scheduled revision operation. Patients presenting for rhytidectomy had tissue samples taken as control tissue. Samples from patients with disease were compared to control samples. RESULTS: Twenty-two subjects were evaluated (six control and 16 Parry-Romberg syndrome patients). All patients with Parry-Romberg syndrome underwent microvascular free tissue transfer to the face. Thirteen patients underwent scheduled 6-month revision surgery. Disease samples were distinct from healthy controls, and postoperative patient samples were more similar to healthy control samples. Parry-Romberg syndrome patients had a unique proinflammatory gene expression profile, including up-regulation of IL24, ADAMTS4, and GFCSF3. Postoperatively, more than 3400 genes were changed (p < 0.005), and of the 460 genes dysregulated in disease, 118 were changed in a corrective fashion by microvascular free tissue transfer. CONCLUSIONS: The authors describe for the first time molecular signatures in Parry-Romberg syndrome. Molecular signatures in skin became more similar to those in healthy controls and were associated with clinical improvement after microvascular free tissue transfer in Parry-Romberg syndrome.

Enophthalmos and Hemifacial Skeletal Atrophy After Trigeminal Nerve Injury.

A 60-year-old woman presented with several years increasing right upper eyelid ptosis. She had undergone surgical decompression of the right trigeminal nerve in the posterior cranial fossa 15 years earlier for trigeminal neuralgia. This left her with permanent numbness in the second and third divisions of the trigeminal nerve. In addition to the ptosis, she was found to have right enophthalmos and a smaller right face. CT scans showed a smaller midfacial skeleton on the right and a depressed orbital floor. The changes were different to those seen in silent sinus syndrome. Photographs taken over many years showed the facial changes were acquired and came on gradually many years after the trigeminal nerve injury. It is possible that trigeminal nerve injury may lead to trophic changes in the facial skeleton, but these have not been previously reported.

[Influence of trigeminal nerve lesion on facial growth: study of two cases of Goldenhar syndrome]. / Influence de l'atteinte trigéminale sur la croissance faciale : étude de deux cas de syndrome de Goldenhar.

INTRODUCTION: This cases report confirms the hypothesis that embryonic and maxillofacial growth are influenced by the peripheral nervous system, including the trigeminal nerve (V). So, it's interesting to use the stigma of the trigeminal nerve as landmarks to analyze the maxillofacial volume and understand its growth. The aim of this study is to evaluate the validity of the three-dimensional cephalometric analysis of Treil based on trigeminal landmarks. CASE PRESENTATION: The first case is a caucasian female child with Goldenhar syndrome. The second case is a caucasian male adult affected by the same syndrome. In both cases, brain MRI showed an unilateral trigeminal nerve lesion, ipsilateral to the facial dysmorphia. CONCLUSION: The results of this radiological study tend to prove the primary role of the trigeminal nerve in craniofacial growth. These cases demonstrate the validity of the theory of Moss. They are one of anatomo-functional justifications of the three-dimensional cephalometric biometry of Treil based on trigeminal nerve landmarks.

Successful autologous hematopoietic stem cell transplantation for a patient with rapidly progressive localized scleroderma.

Autologous hematopoietic stem cell transplant (HSCT) for rapidly progressive disease has not been reported in localized scleroderma. Our patient, a 16-year-old girl had an aggressive variant of localized scleroderma, mixed subtype (linear-generalized) with Parry Romberg syndrome, with no internal organ involvement, that was unresponsive to immunosuppressive therapy and was causing rapid disfigurement. She was administered autologous HSCT in June 2011 and has maintained drug-free remission with excellent functional status at almost 3.5 years of follow-up.

Abordagem terapêutica da síndrome de parry-romberg baseada em um sistema de classificação de gravidade / Therapeutic Approach To The Parry-Romberg Syndrome Based On A Severity Grading System

Introdução: Síndrome de Parry-Romberg (SPR) é caracterizada pela atrofia hemifacial progressiva que, muitas vezes, resulta em graves distúrbios estéticos e funcionais. Embora existam escalas de gravidade, nenhuma delas é completamente ideal para auxiliar na abordagem terapêutica destes pacientes. O objetivo deste estudo foi delinear as estratégias cirúrgicas para o tratamento da SPR baseado em um novo sistema de classificação de gravidade da doença. Método: Trata-se de uma análise retrospectiva dos pacientes com SPR operados em 2005-2011. As abordagens cirúrgicas foram individualizadas de acordo com a escala de gravidade clínica baseada na evolução da doença: tipos I (envolvimento da epiderme, derme e tecido subcutâneo); II (tipo I + envolvimento muscular); e III (tipo I + II + envolvimento ósseo). Quatro (28,57%) pacientes com SPR tipo I, 6 (42,85%) tipo II e 4 (28,57%) tipo III foram incluídos. Resultado: Um total de 47 procedimentos foi realizado. Gordura livre foi enxertada em todos os pacientes. Todos os pacientes do tipo II e 1 (25%) do tipo III foram submetidos a enxertos dermogordurosos. Enxertos ósseos com retalhos de fáscia têmporo-parietal foram aplicados no tratamento de todos os pacientes do tipo III. Um (25%) paciente do tipo III foi submetido à cirurgia ortognática. Houve melhora global na aparência facial em todos os pacientes, sem complicações relacionadas aos procedimentos. Conclusão: O sistema de classificação de gravidade proposto para a SPR pode facilitar a decisão terapêutica e resultados parcialmente satisfatórios podem ser alcançados com a combinação de técnicas cirúrgicas de acordo com a gravidade da doença.

Introduction: The Parry-Romberg Syndrome (PRS) is characterized by progressive hemifacial atrophy that often leads to severe esthetic and functional difficulties. Although there are systems for grading disease severity, none have proven ideal in optimizing the therapeutic approach to these patients. This study aimed to establish the surgical strategies for the treatment of PRS based on a new system for severity grading of the disease. Methods: This retrospective study included PRS patients undergoing surgery between 2005 and 2011. The surgical strategies were adapted for each patient according to a clinical severity grading system based on disease progression: type I, affecting the epidermis, dermis, and subcutaneous tissue; type II, type I + muscle involvement; and type III, Types I+ II + bone involvement. The sample included four patients (28.57%) with PRS type I, six patients (42.85%) with PRS type II, and four patients (28.57%) with PRS type III. Results: Forty-seven procedures were performed. Free-fat grafts were used in all patients. Dermal fat grafts were used in all type II patients and one type III patient (25%). Bone grafts with temporoparietal fascia flaps were performed for the treatment of all type III patients. One type III patient (25%) underwent orthognathic surgery. All patients were improved in their overall facial appearance and there were no procedure-related complications. Conclusion: Our proposed system for grading PRS severity can facilitate the choice of therapeutic approaches and with a combination of surgical techniques based on the severity of the disease partially satisfactory outcomes can be attained.

Clinical study of medial area infarction in the region of posterior inferior cerebellar artery.

Our objective is to study the neurological characteristics of medial area infarction in the caudal cerebellum. Medial area of the caudal cerebellum is supplied with 2 branches of the posterior inferior cerebellar artery (PICA). The medial hemispheric branch of the PICA distributes to the medial area of the caudal cerebellar hemisphere. The medial branch of the PICA (mPICA) distributes to the inferior vermis. We studied the neurological characteristics of 18 patients with medial area infarction of the caudal cerebellum. The infarction was located in the medial area of the cerebellar hemisphere and vermis (medial ch/vermis) in 11 patients and in the medial area of the cerebellar hemisphere (medial ch) in 7 patients. All the 18 patients showed acute vertigo and disturbance of standing and gait at onset. On admission, the lateropulsion and wide-based gait were present in 13 patients, respectively. Mild ataxia of the extremities was shown in 7 patients. Acute vertigo and unsteadiness were prominent at onset in the 18 patients, although their ataxia of the extremities was mild or none. This result was consistent with the characteristics of medial area infarction of the caudal cerebellum. Comparing the neurological symptoms between the medial ch/vermis group and medial ch group, both lateropulsion and wide-based gait were significantly infrequent in medial ch group. This result indicated that the vermis was spared because the mPICA was not involved in the medial ch group. It is necessary to make a careful diagnosis when we encounter patients who present acute vertigo because truncal and gait ataxia are unremarkable on admission in patients with the medial area infarction of the caudal cerebellum without vermis involvement.

Síndrome de ataxia telangiectasia (enfermedad de Louis Barr): una rara facomatosis / Syndrome of ataxia telangiectasia (Louis Barr disease): a rare facomatosis

La ataxia telangiectasia o síndrome de Louis Barr es un raro desorden neurodegenerativo de carácter autosómico recesivo, caracterizado por afectación multisistémica: neurológica, oftalmológica, inmunológica, endocrina, hepática y cutánea. El complejo clínico comprende la presencia de ataxia cerebelosa progresiva, telangiectasias oculocutáneas, enfermedad sinopulmonar crónica, elevada incidencia de neoplasias y una inmunodeficiencia combinada. Es causada por mutación en el gen ataxia telangiectasia, localizado en el locus 11 q22-23, lo que da lugar a deficiencias en su expresión. Su frecuencia se calcula en 1:80.000 y 1,4 % de la población es portadora del gen. Se presenta el caso de una paciente con documentación fotográfica.

The syndrome of ataxia telangiectasia or Louis Barr disease is a rare neurodegenerative disorder autosomal recessive, characterized by multisystem involvement: neurological, immunological, endocrine, ophthalmological, hepatic and cutaneous. The clinical complex includes the presence of progressive cerebellar ataxia, ocular and cutaneous telangiectasia, chronic sinopulmonar disease, high incidence of neoplasms and combined immunodeficiency. It is caused by mutation in the gene for ataxia telangiectasia, located in the q22-23 11 locus, which leads in its expression to numerous deficiencies. Its frequency is calculated in 1:80.000, and 1,4% of the population is a carrier of the gene. The case of a patient with photographic documentation is presented.

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.

Hemifacial mass with extensive intralesional ossification and fat.

The imaging appearance of neurofibromas is well described; however, macroscopic fat in a neurofibroma has been sparsely reported and intralesional ossification has only been documented twice in the literature. We describe a diffuse neurofibroma presenting as a hemifacial mass, atypical for the presence of extensive intralesional ossification and fat; the diagnosis was suggested on identification of other associated radiological features of neurofibromatosis.

Structural fat grafting: facial volumetric restoration in complex reconstructive surgery.

BACKGROUND: The authors overview the application of structural fat grafting (SFG) in the management of volumetric deficit in the maxillofacial area. Structural fat grafting was introduced as a way to improve facial aesthetics and in recent years has evolved into applications in craniomaxillofacial reconstructive surgery. METHODS: A retrospective cohort study population was composed of patients grafted with autologous fat referred to our department from February 2005 to July 2009. Each patient was operated on with SFG technique according to Coleman. Subjects were screened to these possessing an atrophy of facial soft tissues after trauma, tumor resection, congenital deformities and clefts, Parry-Romberg and scleroderma, orbital and periorbital surgery, facial palsy, burns, and scars. RESULTS: Forty-seven patients (27 females and 20 males) with a mean age of 38 years (minimum, 15 years; maximum, 71 years) were enrolled in the current study. The mean postoperative follow-up was 14 months. A total of 548 sites were grafted into 47 patients: malar, n = 103; nasolabial fold, n = 82; lip, n = 86; eyebrow, n = 32; jaw line, n = 18; philtrum, n = 19; forehead, n = 33; temple, n = 34; eyelid, n = 70; chin, n = 16; cheek, n = 25; nose, n = 23; and neck scar, n = 7. Each patient was operated on 1.6 times, and 11.6 was the average number of grafted sites. CONCLUSIONS: The authors have performed 548 procedures of SFG in 47 patients with good results as well as improvement in facial morphology, function, shape, and volume and improvement in the patients' appearance.

Herpes zoster oticus associated with varicella zoster virus encephalitis.

Ramsay-Hunt syndrome, herpes zoster oticus (HZO), derived its name from James Ramsay Hunt, who first described it in 1907. It is classically characterized by acute peripheral facial paralysis, herpetic eruptions on the auricle, and vestibulocochlear dysfunction due to the reactivation of varicella zoster virus (VZV). In this Case Report, the authors describe an HZO patient with simultaneous VZV encephalitis. To date, only eight cases of HZO associated with VZV encephalitis have been reported in the English literature. Therefore, the authors discuss all the aspects of this rare entity, including clinical examination, radiological evaluation, laboratory evaluation, and treatment options.

[Plaque-type scleroderma associated with linear and oesophageal features and facial and extra-facial hemiatrophy]. / Sclérodermie en plaques et linéaire avec hémiatrophie faciale et extra-faciale et atteinte oesophagienne.

BACKGROUND: Association of scleroderma with hemiatrophy is rare. The case we describe is unusual because of the combination in the same patient of several sub-types of scleroderma with oesophageal involvement and facial and extra-facial hemiatrophy. CASE REPORT: A 38-year-old women suffering from plaque-type morphea presented oesophageal dysfunction during the course of her disease with positive anti-Scl70-antibodies and progressive right-sided hemiatrophy of the face, sternocleidomastoid, thumb and thenar eminence. Linear hyperpigmentation of the right arm and a "coup de sabre" appearance on the face were also noted. DISCUSSION: Facial and extra-facial hemiatrophies are usually associated with or originate secondary to linear scleroderma. Only two cases with systemic involvement have been reported but hemiatrophy was localised to the face. The present case is unusual because of its onset as morphea in plaque form, because of the oesophageal involvement and the additional association of morphea in a linear form and facial and extra facial hemiatrophy. The relationship between sclerodermic facial hemiatrophy and Romberg facial hemiatrophy is also discussed. CONCLUSION: The combination of several sub-types of scleroderma and facial and extra-facial hemiatrophy in the same patient may indicate that these entities actually represent different spectra of the same disease.