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Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1. A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.

We report the case of a 5-year-old girl born from consanguineous parents, presenting with alopecia universalis since the age of 8 months, without papules or cysts over the scalp or body. The goal of this paper is to emphasize the relevance of histopathology for the early diagnosis of atrichia with papular lesions in children with alopecia universalis, in settings where genetic testing may not be available.

Cutaneous lymphomas comprise a heterogeneous group of lymphoproliferative disorders with skin involvement and are classified as a subgroup of non-Hodgkin lymphomas. From 1981 to 2007, 100 children with non-Hodgkin lymphomas were admitted to the Hematology Unit of the Federal University of Minas Gerais Teaching Hospital. In nine of these children, the skin was involved at the onset of the disease. Three patients were classified as having primary cutaneous lymphoma, while in six the disease was systemic with cutaneous involvement. In seven patients, the immunophenotype was T-cell, in one it was B-cell, and in the remaining case the immunophenotype was indefinable. No deaths occurred in any of the children with primary cutaneous lymphoma.

INTRODUÇÃO: o diagnóstico, o tratamento e o acompanhamento de pacientes portadores da síndrome da apneia obstrutiva do sono (SAOS) são essenciais, por se tratar de um distúrbio que pode causar alterações sistêmicas. A efetividade do tratamento da SAOS com aparelhos intrabucais foi demonstrada através de estudos cefalométricos. OBJETIVO: o objetivo deste estudo foi avaliar o efeito do aparelho de avanço mandibular (Twin Block, TB) no volume das vias aéreas superiores, por meio de tomografia computadorizada Cone-Beam (CBCT). Dezesseis pacientes (6 homens e 10 mulheres) portadores de SAOS leve a moderada, idade média de 47,06 anos, utilizaram um aparelho de avanço mandibular e foram acompanhados por 7 meses, em média. MÉTODOS: foram feitas duas CBCT, sendo uma sem e outra com o aparelho em posição. A segmentação e a obtenção dos volumes das vias aéreas superiores foram realizadas e utilizado o teste t de Student pareado para análise estatística, com 5% de significância. RESULTADOS: houve aumento do volume da via aérea superior com TB quando comparado com o volume sem TB (p

O pioderma gangrenoso (PG) faz parte do espectro das dermatoses neutrofilicas, processos que tem em comum um padrao histologico similar, formado por infiltrado de leucocitos polimorfonucleares, de carater nao infeccioso e nao neoplasico e sem vasculite primaria. Caracteriza-se por ulceras dolorosas, com bordas imprecisas, de variados tamanhos e profundidade, localizadas principalmente nos membros inferiores, mas outras partes da pele, mucosas e outros orgaos podem estar envolvidos. A doenca tem grande morbidade e seu curso pode ser cronico ou recidivante. A patogenese nao e bem conhecida. Em 50 a 70% dos pacientes, esta associado a uma doenca de base, como doenca inflamatoria intestinal, doencas reumaticas, hematologicas ou malignidades; pode apresentar-se de forma isolada. Sao analisados dois pacientes com o diagnostico de pioderma gangrenoso e artrite associada, para ressaltar a importância do conhecimento dessa dermatose pelo reumatologista, ja que o acometimento articular ocorre em cerca de 37% dos pacientes que apresentam essa sindrome neutrofilica.

As novas classificações disponíveis e os modernos recursos diagnósticos por imagem não só permitiram a diferenciação entre os tumores e as malformações vasculares, mas também modificaram de forma substancial a abordagem e o tratamento dessas anomalias. O hemangioma da infância, o mais comum dos tumores vasculares dessa faixa etária e objeto deste trabalho, é revisto do ponto de vista de suas características clínicas e laboratoriais, diagnóstico diferencial e opções terapêuticas. Embora a conduta expectante permaneça como o tratamento de escolha para a maioria dos casos, o julgamento crítico é crucial para o emprego de outras modalidades terapêuticas.New classifications and availability of modern radiologic diagnostic tools have not only allowed a precise distinction between vascular tumors and vascular malformations but have also significantly modified management and treatment of these vascular anomalies. Hemangioma of infancy, the most common vascular tumor of this age and subject of this review, is approached from its clinical and laboratory features, differential diagnosis and therapeutic options. Although non-intervention remains the treatment of choice for the majority of cases, critical judgement is mandatory to decide whether other therapeutic modalities should be used.

An 8-year-old girl was referred for evaluation of multiple lesions on the neck, axillae, and genitalia. A great number of milia-like lesions were also noticed on the palms and discrete keratotic plugs on the soles. Histopathology from lesions on the neck, axilla, and vulva were consistent with syringoma. On the palms and soles, eccrine ducts cystically dilated filled with proteinaceous material and calcifications were found. Although the nature of palmar and plantar lesions in our patient is uncertain, we think that they should be related to the other syringomas on her skin.

OBJECTIVE: To check the report of neonatal dermatoses of medical relevance (congenital melanocytic nevus, sebaceous nevus, cafe-au-lait spots, Port-wine stain, ash leaf maculas) in the newborn's file. METHODS: The authors carried out a cross-sectional study in two hospitals in the city of Belo Horizonte. All children born during a consecutive period of 4 months were examined within their 36 first hours of life by a dermatologist who reported all clinically relevant dermatoses (congenital melanocytic nevus, sebaceous nevus, cafeau- lait spots, Port-wine stain, ash leaf macules). Simultaneously, the dermatologist's report was cross checked with the pediatrician's. RESULTS: Neonatal dermatoses of clinical relevance were found in 42 (5.6%) out of 752 children examined during this period. However, the report in the neonate's file could be detected only in 5 (11,9%) out of 42 children. CONCLUSIONS: Clinically relevant dermatoses were underreported in the neonate's file in this study. There is a clear need to stimulate the detection and report of these skin disorders so that parental advice, treatment and genetic counseling can be adequately indicated.

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management. Neurofibromatoses (NF) constituem um grupo de doenças genéticas com predisposição ao crescimento de múltiplos tumores: tipo 1 (NF1), tipo 2 (NF2) e schwannomatose (SCH). Estas doenças têm em comum a origem neural dos tumores e os sinais cutâneos. Afetam cerca de 80 mil brasileiros. O maior conhecimento científico sobre as NF tem permitido melhor manejo clínico, redução da morbidade das complicações e melhor qualidade de vida. Na maioria dos casos, os especialistas em neurologia, dermatologia, genética clínica, oncologia e medicina interna estão capacitados a realizar o diagnóstico diferencial e identificar suas principais complicações. Devido à sua variabilidade fenotípica, curso progressivo, multiplicidade de órgãos acometidos e evolução imprevisível, as NF frequentemente necessitam de especialistas em NF para o acompanhamento. A Parte 1 deste texto oferece orientações para o diagnóstico de cada tipo de NF e discute os diagnósticos diferenciais com outras doenças. A Parte 2 oferecerá orientações em relação ao manejo clínico das NF.

INTRODUCTION: Rapid maxillary expansion (RME) for the treatment of maxillary deficiency and posterior crossbite may induce changes in the vertical dimension. Expanders with occlusal splints have been developed to minimize unwanted vertical effects. OBJECTIVE: This preliminary study used cephalometri radiographs to evaluate the vertical effects of RME using a Hyrax appliance in children with maxillary deficiency. METHOD: Twenty-six patients (11 boys; mean age = 8 years and 5 months) with maxillary deficiency and posterior crossbite were treated using a Hyrax appliance with an acrylic occlusal splint. Radiographs and cephalometric studies were performed before the beginning of the treatment (T1) and after RME active time (T2), at a mean interval of 7 months. Results were compared with normative values. RESULTS AND CONCLUSIONS: At the end of treatment, there were no statistically significant changes, and measurements were similar to the normative values. Data showed that there were no significant effects on vertical growth, which suggests that appliances with occlusal splints may be used to correct transverse deficiencies regardless of the patient's growth pattern.

A síndrome KLICK é uma genodermatose rara, autossômica recessiva, caracterizada pela associação de queratodermia palmo-plantar difusa e transgressiva, com esclerodactilia, placas hiperqueratóticas lineares localizadas preferencialmente em flexuras e ictiose congênita. Não há alterações em fâneros ou mucosas, assim como sintomas sistêmicos associados. O tratamento consiste no uso de queratolíticos tópicos e retinóides orais

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare autosomal recessive skin disorder characterized by the association of diffuse, transgressive palmoplantar keratoderma with sclerodactyly, linear hyperkeratotic plaques generally located in flexures, and congenital ichthyosis. The patient is physically and mentally healthy and has no history of any problems related to teeth, nails, hair or mucous membranes. Treatment is based on the use of topical keratolytics and oral retinoids.

Cutaneous lymphomas comprise a heterogeneous group of lymphoproliferative disorders with skin involvement and are classified as a subgroup of non-Hodgkin lymphomas. From 1981 to 2007, 100 children with non-Hodgkin lymphomas were admitted to the Hematology Unit of the Federal University of Minas Gerais Teaching Hospital. In nine of these children, the skin was involved at the onset of the disease. Three patients were classified as having primary cutaneous lymphoma, while in six the disease was systemic with cutaneous involvement. In seven patients, the immunophenotype was T-cell, in one it was B-cell, and in the remaining case the immunophenotype was indefinable. No deaths occurred in any of the children with primary cutaneous lymphoma.

Submitted by Boris Flegr (boris@uerj.br) on 2021-01-07T15:04:17Z No. of bitstreams: 1 DISSERTACAO_FINAL_Luciana_Baptista_Pereira_Abi-Ramia.pdf: 2562691 bytes, checksum: f35b1d23be368de8644e9746771b9117 (MD5) Made available in DSpace on 2021-01-07T15:04:17Z (GMT). No. of bitstreams: 1 DISSERTACAO_FINAL_Luciana_Baptista_Pereira_Abi-Ramia.pdf: 2562691 bytes, checksum: f35b1d23be368de8644e9746771b9117 (MD5) Previous issue date: 2009-12-18 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior The aim of this study were to evaluate the effect of a mandibular advancement device (Twin Block TB) in the upper airway volume, with cone beam computed tomography (CBCT); to analyze, by polysomnographys, changes in apnea and hipopnea index per hour (AHI), apnea index per hour of sleep (AI), oxyhemoglobin saturation and sleep efficiency; and correlate changes in volume in CBCT and the results of polysomnography. Sixteen OSA patients, mean age of 47.07 years, participated in this prospective study, with follow up of 7 months. Initial polysomnography (T1) and follow up polysomnography (T2) were taken with TB in position, and CBCT with and without TB were taken. Upper airway segmentations and volumes were performed and were evaluated by the Student t test, the Wilcoxon test, and Spearman correlation, with 5% significance level. The results of the polysomnographs showed statistically significant differences between T1 and T2, only for AHI (p

Objectives: To describe the microscopic pulpal reactions resulting from orthodontically induced tooth movement associated with low-level laser therapy (LLLT) in rats. Materials and Methods: Forty-five young male Wistar rats were randomly assigned to three groups. In group I (n = 20), the maxillary right first molars were submitted to orthodontic movement with placement of a coil spring. In group II (n = 20), the teeth were submitted to orthodontic movement plus LLLT at 4 seconds per point (buccal, palatal, and mesial) with a GaAlAs diode laser source (830 nm, 100 mW, 18 J/cm2). Group III (n = 5) served as a control (no orthodontic movement or LLLT). Groups I and II were divided into four subgroups according to the time elapsed between the start of tooth movement and sacrifice (12 hours, 24 hours, 3 days, and 7 days). Results: Up until the 3-day period, the specimens in group I presented a thicker odontoblastic layer, no cell-free zone of Weil, pulp core with differentiated mesenchymal and defense cells, and a high concentration of blood vessels. In group II, at the 12- and 24-hour time points, the odontoblastic layer was disorganized and the cell-free zone of Weil was absent, presenting undifferentiated cells, intensive vascularization with congested capillaries, and scarce defense cells in the cell-rich zone. In groups I and II, pulpal responses to the stimuli were more intense in the area underneath the region of application of the force or force/laser. Conclusions: The orthodontic-induced tooth movement and LLLT association showed reversible hyperemia as a tissue response to the stimulus. LLLT leads to a faster repair of the pulpal tissue due to orthodontic movement.

Dyschromatosis symetrica hereditaria (reticulate acropigmentation of Dohi) is a rare autosomal dominant disease. It starts as hyperpigmented and hypopigmented macules in reticular pattern on the extremities. We present a case of a 13-year old boy that showed hyper and hypopigmented macules distributed on the dorsal aspects of the extremities, freckle-like pigmented macules on the face and periorbital atrophic linear lesions. Differentiation with others reticulate pigmentation manifestations is necessary.

A síndrome de Urbach-Wiethe, também conhecida como lipoidoproteinose ou hialinose cutânea e mucosa (OMIM 247100), é rara genodermatose de herança autossômica recessiva, de patogênese desconhecida, que se caracteriza pela deposição de material hialino na pele, mucosa oral e órgãos internos. Alterações características incluem a rouquidão, pápulas e nódulos na face, especialmente na borda das pálpebras, cicatrizes varioliformes, espessamento difuso e aspecto amarelado da pele e lesões verrucosas em áreas de atrito.

Muckle-Wells syndrome is a rare autosomal dominant disease that belongs to a group of hereditary febrile syndromes. It is characterized by recurrent and self-limited episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis since childhood, which are related to exposure to cold temperatures. Lately, progressive sensorineural hearing loss occurs. Amyloidosis is the main complication and can be found in about 25% of the cases. It has been demonstrated that there is an association with mutations in the NLRP3 gene, which codifies cryopyrin, a protein responsible for regulating the production of proinflammatory cytokines, such as interleukin-1Beta. The authors report four cases of the disease within a family.

FUNDAMENTOS - O vitiligo atinge de 0,5 a 4% da população mundial, e 25% dos casos se iniciam antes dos 10 anos. Embora prevalente, estudos epidemiológicos de vitiligo na infância são raros na literatura brasileira. OBJETIVO - Avaliar características clínicas e epidemiológicas do vitiligo na infância. MÉTODO - Realizado estudo descritivo em 73 crianças com vitiligo, atendidas no Ambulatório de Dermatologia Pediátrica do Hospital das Clínicas da Universidade Federal de Minas Gerais. Variáveis como sexo, idades ao início da doença e tratamento, superfície corporal acometida, forma clínica, localização, associação com doenças auto-imunes, história familiar de vitiligo e tratamento inicial foram avaliadas. A análise estatística foi realizada usando freqüências simples e comparação de médias pela análise de variância. RESULTADOS - 60,3% dos pacientes eram do sexo feminino. A média de idade ao início da doença foi 5,7, e a do início do tratamento, sete anos. A superfície corporal acometida foi inferior a 1% em 71,8%, e a forma localizada foi detectada em 76,7% dos casos. A localização mais comum foi o segmento cefálico. O vitiligo em familiares foi observado em 30,1% dos casos. O hipotireoidismo foi detectado em um paciente, e 11% deles relataram a presença de doença auto-imune em familiares. O corticóide tópico foi o tratamento inicial na maioria dos pacientes. CONCLUSÕES - Os achados deste estudo ambulatorial são basicamente semelhantes aos encontrados em estudos realizados em outros países. BACKGROUND: vitiligo affects 0.5 to 4% of the world population. Twenty-five per cent of cases have their onset before the age of 10 years. Although the condition is prevalent in childhood, there are few epidemiological reports in children in the Brazilian literature. OBJECTIVE: to evaluate clinical and epidemiologic characteristics of vitiligo in childhood. METHODS: a descriptive study was performed in 73 children with vitiligo seen at the Pediatric Dermatology Outpatient Clinics of the Hospital das Clinicas- Universage Federal de Minas Gerais. The variables sex, age of onset of disease and treatment, affected body surface area, clinical type, site, autoimmune disease association, family history of vitiligo and initial treatment were evaluated. The statistical analysis was performed using simple frequency and means were compared through analysis of variance. RESULTS: Females accounted for 60.3% of the sample. The mean age at onset of disease was 5.7 years and the mean age at onset of treatment was 7 years. The body surface area affected was smaller than 1% in 71.8% and the localized type was detected in 76.7%. The most common site affected was the head. Family history of vitiligo was observed in 30.1% of patients. Hypothyroidism was found in one patient and 11% reported autoimmune diseases in their families. The initial treatment was topical steroids in the majority of patients. CONCLUSIONS: the findings of vitiligo in childhood in this study are basically similar to those reported in other countries.

As novas classificações disponíveis e os modernos recursos diagnósticos por imagem não só permitiram a diferenciação entre os tumores e as malformações vasculares, mas também modificaram de forma substancial a abordagem e o tratamento dessas anomalias. O hemangioma da infância, o mais comum dos tumores vasculares dessa faixa etária e objeto deste trabalho, é revisto do ponto de vista de suas características clínicas e laboratoriais, diagnóstico diferencial e opções terapêuticas. Embora a conduta expectante permaneça como o tratamento de escolha para a maioria dos casos, o julgamento crítico é crucial para o emprego de outras modalidades terapêuticas. New classifications and availability of modern radiologic diagnostic tools have not only allowed a precise distinction between vascular tumors and vascular malformations but have also significantly modified management and treatment of these vascular anomalies. Hemangioma of infancy, the most common vascular tumor of this age and subject of this review, is approached from its clinical and laboratory features, differential diagnosis and therapeutic options. Although non-intervention remains the treatment of choice for the majority of cases, critical judgement is mandatory to decide whether other therapeutic modalities should be used.

OBJECTIVE The authors describe a case of giant hemangioma treated with interferon alpha-2a and review the role of this drug and other therapeutic modalities in the management of vascular lesions. METHODS A seven month-old child with giant hemangioma and persistent bleeding, anemia and repeated infections was treated with interferon alpha-2a. The drug was administered at the dosage of 3 million units/m(2)/day, subcutaneously, for nine months. RESULTS Response to treatment was considered excellent, with regression of 90% of the lesion, control of bleeding, infection and anemia, and catch-up growth. No untoward effects were observed. CONCLUSION Interferon alpha-2a should be considered as a valid therapeutic option in selected cases of hemangioma in children.