Luciana Baptista Pereira

Hemangioma of infancy

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.

Vitiligo na infância: características clínicas e epidemiológicas

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.

Síndrome de Muckle-Wells em quatro membros de uma família

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.

Pioderma gangrenoso: um desafio para o reumatologista

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.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.

Disceratose congênita: relato de caso e revisão da literatura

Dyskeratosis congenita is an inherited disease characterised by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Non-cutaneous abnormalities (dental, gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary and skeletal) have also been reported. Bone marrow failure is the main cause of early mortality, with an additional predisposition to malignancy. Men are more affected than women and X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognised. We report a case of a male child who presented the classic triad of lesions, without familial cases. A review of the literature is also made, emphasizing the importance of a multidisciplinary approach, which is fundamental for an early diagnosis of the complications.

Neurofibromatosis: part 2 – clinical management

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.

Apresentação cutânea inicial de linfomas na infância

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.

Milia with Calcium Deposits on the Palms and Soles in a Patient with Multiple Syringoma

Abstract:  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.

Neonatal dermatoses of medical relevance: their report in the newborn’s file

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 newborns 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 dermatologists report was cross checked with the pediatricians. 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 neonates file could be detected only in 5 (11,9%) out of 42 children. CONCLUSIONS: Clinically relevant dermatoses were underreported in the neonates 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.

[Giant hemangioma treated with interferon alpha-2a].

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.