Abstract Background Infantile hemangiomas (IH) are the most common soft tissue tumors of childhood. Although most of these tumors are not worrisome, some IH may be life or function-threatening, can lead to permanent disfigurement, or have associated structural congenital anomalies, requiring early recognition and referral to specialists for treatment consideration. Since 2008, oral propranolol has been widely considered to be the first-line treatment for IH. Objectives To evaluate aesthetic and functional outcome in propranolol-treated infantile hemangiomas according to the age of treatment onset. Methods Retrospective, observational study of infantile hemangioma patients under 4 years of age at the time of diagnosis, treated with oral propranolol. Evaluated parameters included: pre and post-treatment morphologic/aesthetic aspects of the hemangioma, total resolution rate, degree of functional compromise of affected areas and its evolution. Two independent pediatric dermatologists evaluated all cases reviewing clinical data from medical records and comparing clinical photographs taken at initiation and at the end of treatment of each patient. Data were analyzed with STATA 13.0 program. Results The cohort included 138 patients, with a female predominance. The median age at therapy onset was 3 months. The morphological/aesthetic improvement rate was 99% (95% CI 96‒99), the total resolution rate was 48% (95% CI 44‒60) and the functional improvement rate reached 100%. When comparing total resolution outcome versus age when treatment started, the improvement was larger in younger patients (3.5 vs. 4.9 months, p = 0.01). When comparing the total resolution rate in those younger or older than 3 months at treatment initiation, the percentage of total resolution in the younger group was 57% vs. 40% in the older one (p = 0.05). Study limitations Retrospective design; patients photographs were the sole indicators used to measure regression rates. Visual assessment is subjective. Conclusion The present results strongly suggest that early (before 3 months of age) initiation of treatment of infantile hemangiomas with propranolol results in significantly higher aesthetic and functional improvement rates and a higher percentage of total resolution.

Abstract Isolated angiokeratomas (AKs) are common cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse AKs should alert the physician to a possible diagnosis of Fabry disease (FD). Angiokeratomas often do not appear until adolescence or young adulthood. The number of lesions and the extension over the body increase progressively with time, so that generalization and mucosal involvement are frequent. Although rare, FD remains an important diagnosis to consider in patients with AKs, with or without familial history. Dermatologists must have a high index of suspicion, especially when skin features are associated with other earlier symptoms such as acroparesthesia, hypohidrosis, or heat intolerance. Once the diagnosis is established, prompt screening of family members should be performed. In all cases, a multidisciplinary team is necessary for the long-term follow-up and treatment.

Subungual exostosis is a benign bony outgrowth surrounded by a fibrocartilaginous capsule that mainly affects hallux terminal phalanx with subungual or periungular localization, and that clinically determines variable degree of nail plate or periungular soft tissues alterations, respectively, It is uncommon in childhood and more frequent in females. Clínical suspicion is confirmed by the radiographic finding of a distinct trabecular bone growth arising from the dorsal aspect of the phalanx of the affected finger, on the lateral incidence. Curettage or surgical excision is the treatment of choice. We report a case of subungual exostosis located at the hallux in a 14-year-old boy suffering from subungual exostosis of the hallux that presented the characteristic triad of this entity: subungular tumor with nail plate deformity, digital pain and radiologic typical findings.

La exostosis subungueal es un tumor benigno de hueso trabecular rodeado por una cápsula fibrocartilaginosa; aparece principalmente en la falange distal del hallux, por debajo de la uña o adyacente a ella y se manifiesta clínicamente por alteración de la uña suprayacente o de los tejidos blandos periungueales, respectivamente. Es infrecuente en la infancia y más común en el sexo femenino. La sospecha clínica se confirma por el hallazgo radiológico (placa de perfil) de una excrecencia de hueso trabecular que se proyecta desde la superficie dorsal de la falange distal del dedo afectado. El tratamiento de elección consiste en el legrado o remoción quirúrgica de la lesión. Presentamos un caso de exostosis subungueal localizada en el hallux en un varón de 14 años de edad, con la tríada característica de esta entidad: dolor digital, lesión subungueal con deformidad de la lámina ungueal y hallazgos radiográficos característicos.

A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A. O defeito resulta no acúmulo de globotriaosilceramida no endotélio vascular e tecidos viscerais, sendo a pele, o coração, os rins e o sistema nervoso central os mais afetados. As autoras realizam revisão da literatura relacionada a essa afecção e ressaltam que o reconhecimento precoce dos angioqueratomas e da hipoidrose constitui sinal-chave no diagnóstico dessa doença grave. Destacam também a necessidade de esses doentes serem avaliados por equipe multidisciplinar.

Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and central nervous system the most affected organs. We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease. We also addressed the need of multidisciplinary assessment of these patients.

Actinic prurigo is a rare idiopathic photodermatosis which mostly affects mestizo populations from several american countries. It is more frequent in females, with usual onset during the first decade of life. It mainly affects sun-exposed areas, as well as semimucosal surfaces of lips and conjunctiva. The uncommon compromise of covered skin areas have also been described. Clinically it manifests with erythematous papules resembling prurigo, with liquenification, post-inflammatory hyperpigmentation and sometimes scars, associated with severe itch. Histopathologic findings of skin lesions are inespecific. The diagnosis is supported on clinical and histopathological correlation. Treating this entity is a real challenge. Here we present a case of actinic prurigo occurring in an 8-year-old girl, satisfactory treated with thalidomide.

El prurigo actínico es una fotodermatosis idiopática poco frecuente, que afecta habitualmente a mestizos de diversos países americanos. Es más común en mujeres y suele iniciarse durante la primera década de vida. Compromete preferentemente la piel de áreas fotoexpuestas, así como la semimucosa labial y la conjuntiva. Con menor frecuencia se observan lesiones en piel cubierta. Clínicamente se presenta con pápulas eritematosas prurigoides, liquenificación, hiperpigmentación posinflamatoria e inclusive cicatrices, asociadas a prurito intenso. La histopatología de las lesiones cutáneas es inespecífica. El diagnóstico se realiza estableciendo una correcta correlación clínico-patológica. El tratamiento de esta entidad constituye un verdadero desafío. Presentamos un caso de prurigo actínico en una paciente de 8 años de edad, que fue tratada satisfactoriamente con talidomida.

OBJETIVO: Estudar e comparar o aspecto dos cabelos de portadores das síndromes de Chédiak-Higashi e Griscelli-Prunieras, tanto na microscopia óptica convencional quanto com luz polarizada. MÉTODO: Cabelos de dois doentes portadores da síndrome de Chédiak-Higashi e de dois portadores da síndrome de Griscelli-Prunieras foram obtidos e estudados tanto à microscopia convencional quanto com luz polarizada. RESULTADOS: Na microscopia óptica convencional, os cabelos dos doentes portadores da síndrome de Chédiak-Higashi mostraram grânulos de melanina regulares, com distribuição homogênea e de maior tamanho em comparação aos presentes no cabelo normal. À microscopia de luz polarizada notou-se aspecto brilhante e refringência policromática. Diferentemente, os cabelos dos doentes portadores da síndrome de Griscelli-Prunieras apresentaram à microscopia convencional, grânulos de melanina irregulares e maiores do que os presentes no cabelo normal e os presentes nos cabelos dos doentes portadores da síndrome de Chédiak-Higashi, preferencialmente próximos à medula das hastes pilosas. À microscopia de luz polarizada apresentaram aspecto monotonamente esbranquiçado. CONCLUSÃO: O exame dos cabelos pela microscopia convencional nas síndromes de Chédiak-Higashi e Griscelli-Prunieras revela diferenças sutis no reconhecimento dessas doenças. No presente trabalho apresentamos evidência de que o exame das hastes pilosas com microscopia de luz polarizada - não descrito previamente - contribui na diferenciação de ambas doenças sugerindo que esse seja um método diagnóstico útil na distinção entre as síndromes de Chédiak-Higashi e Griscelli Prunieras, especialmente nos casos em que estudos moleculares mais sofisticados não estejam disponíveis.

PURPOSE: To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD: Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS: Under light microscopy, hairs from Chédiak-Higashi patients presented evenly distributed, regular melanin granules, larger than those seen in normal hairs. Under polarized light microscopy, shafts exhibited a bright and polychromatic refringence appearance. In contrast, hair from Griscelli-Prunieras patients, under light microscopy, exhibited bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, shafts appeared monotonously white. CONCLUSION: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them. We provide evidence that polarized light microscopy of hair shafts, an approach that has not been previously described, aids in differentiating between these syndromes. We propose hair study by polarized light microscopy as a helpful complementary diagnostic method for differential diagnosis between CHS and GPS, especially when the more sophisticated molecular studies are not available.