Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome / Maculopatia simétrica bilateral e heterocromia na síndrome de Waardenburg

ABSTRACT Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes. Based on the different clinical presentations, it is divided into four subtypes as in WS1 to WS4. This report describes a 15-year-old boy who presented with low vision and bilateral hearing loss. His visual acuity was 20/200 in both eyes. Slit-lamp examination revealed complete iris heterochromia, with one blue iris and one brown iris. Fundus examination showed symmetrical pigmentation of the retina and choroid, with atrophy of the pigment epithelium in the macular region, notably also in the eye with normal iris pigment illustrating the broad spectrum of the iris and fundus pigmentation as part of this syndrome. A carefully clinical and ophthalmological evaluation should be done to differentiate various types of Waardenburg syndrome and other associated auditory-pigmentary syndrome. Early diagnosis in some cases may be crucial for the adequate development of patients affected with this condition.

RESUMO A síndrome de Waardenburg é uma doença genética congênita rara caracterizada por perda auditiva neurossensorial e anormalidades pigmentares do cabelo, da pele e dos olhos. Com base nas diferentes apresentações clínicas, é dividida em quatro subtipos (WS1 a WS4). Este relato descreve o caso de um menino de 15 anos que apresentava baixa visão e perda auditiva bilateral. Sua acuidade visual era de 20/200 em ambos os olhos. O exame em lâmpada de fenda revelou heterocromia completa da íris, com uma íris azul e uma íris marrom. A fundoscopia mostrou pigmentação simétrica da retina e coroide, com atrofia do epitélio pigmentar na região macular, notadamente também no olho com pigmento de íris normal, ilustrando o amplo espectro de pigmentação de íris e fundo como parte dessa síndrome. Uma avaliação clínica e oftalmológica criteriosa deve ser feita para diferenciar os vários tipos de síndrome de Waardenburg e outras síndromes auditivo-pigmentares associadas. O diagnóstico precoce em alguns casos pode ser crucial para o desenvolvimento adequado dos pacientes acometidos por essa condição.

Heterocromia de íris: uma revisão das condições que podem afetar a pigmentação iridiana / Heterochromia: a review of conditions that may affect iris pigmentation

RESUMO A íris é responsável pela cor dos olhos. Ela ainda realiza o controle da quantidade de luz que penetra no olho pela pupila. Variações nos genes de cada indivíduo, além da quantidade e da qualidade de melanina na íris, determinam a cor dos olhos. A heterocromia é caracterizada por diferenças na coloração da íris de um mesmo indivíduo, sendo, na maioria das vezes, benigna. Existem basicamente três tipos de heterocromia de íris: central, setorial e completa. A heterocromia de íris pode ter como causa alterações genéticas e congênitas, relacionadas ou não a síndromes específicas, como a de Sturge-Weber, a de Waardenburg, a de Parry-Romberg e a de Horner congênita. Há também causas adquiridas, como doenças ou lesões, trauma ocular e corpos estranhos intraoculares, uso de certas medicações tópicas, siderose ocular, irites ou uveítes como a síndrome uveítica de Fuchs, dentre outras. Diante de um paciente com heterocromia de íris, deve-se entender o contexto e o curso clínico desse sinal, pois pode se tratar de uma alteração de pigmentação benigna ou existir uma doença base em curso, que requer terapêutica específica. Este artigo de revisão de literatura visa abordar as principais etiologias relacionadas à heterocromia de íris, além de discorrer sobre a anatomia e a fisiologia da coloração iridiana e sobre a fisiopatologia de suas possíveis alterações.

ABSTRACT The iris is responsible for eye color and controls the amount of light that enters the eye through the pupil. Variation in each individual's genes, besides the quantity and quality of melanin in the iris, determine eye color. Heterochromia is characterized by different colors of irises in the same individual, and it is benign in most cases. There are basically three types of heterochromia: central, partial and complete. Heterochromia can be caused by genetic and congenital alterations, which may or may not be related to specific conditions, such as Sturge-Weber syndrome, Waardenburg syndrome, Parry-Romberg syndrome and congenital Horner syndrome. It may be associated to acquired causes like diseases or injuries, such as eye trauma and intraocular foreign bodies, use of some topical medications, ocular siderosis, iritis or uveitis, such as Fuchs´ uveitis, among others. When assessing a patient with heterochromia, one must understand the context and clinical course of this signal, since it may be a benign pigmentation disorder or there may be an underlying disease, which requires specific therapy. This literature review article was set out to address the main etiologies related to heterochromia, in addition to describing the anatomy and physiology of the iris color and the pathophysiology of possible alterations.

Lesión cutánea por radiación en angioplastía coronaria compleja / Cutaneous radiation injury after failed percutaneous coronary angioplasty

Resumen: Las lesiones cutáneas por radiación (LCR) son una complicación infrecuente, con un estimado de 3.600 casos de lesiones mayores reportados en la actualidad. Presentamos un caso de lesión eritematosa mayor por radiación posterior a angioplastía coronaria fallida y en segundo tiempo angioplastía coronaria con rotablación.

Abstract: Cutaneous radiation injuries are an infrequent complication, with an estimated 3.600 cases of major injuries reported up to now. We present a case of a major erythematous lesion induced by radiation after failed coronary angioplasty and consecutive coronary rotablation.

Cutaneous polyarteritis nodosa causing refractory skin deformation and pigmentation as sequel

Abstract: A 39-year-old woman presented with prominent and painful livedo reticularis lesions spreading on her upper and lower extremities. Histopathologically, the small-to medium-sized arteries in the deep dermis and subcutis showed necrotizing vasculitis with cellular infiltration, suggesting cutaneous polyarteritis nodosa. The serum levels of inflammatory markers normalized with aspirin 100mg/day and prednisolone 10mg/day within 2 months, and there was no other skin or organ involvement over 18 months of follow up. However, serious refractory skin depressions and pigmentation remained after two years of treatment. This suggests the importance of early and aggressive therapy for cutaneous polyarteritis nodosa to prevent unsightly skin sequel, as well as control of disease activity.

Poikilodermatous changes on the forearms of a woman practicing aroma-therapy: extracervical poikiloderma of Civatte?

We report the case of a 48-year-old, Caucasian female who presented with slowly progressing asymptomatic poikilodermatous changes of the extensor aspects of the forearms. She also had typical Poikiloderma of Civatte on the V of the neck and erythemato-telangiectatic rosacea of the central face. The patient had been practicing aroma-therapy for many years. Histologic examination revealed findings consistent with PC. Patch-testing revealed positive reactions to Fragrance mix and Nickel sulphate. Based on clinical and histological findings, a diagnosis of extracervical PC was suggested. PC with extra-cervical or extra-facial involvement is rare. In addition, this case supports the theory that contact sensitization to fragrances may contribute to the development of PC.

Tatuajes traumáticos en Chile tratados con láser Q-switched Nd:YAG: reporte de nueve casos / Traumatic tattoos in Chile treated with Q-switched laser Nd: YAG: report of nine cases

Introducción: Los láser Q-switched (QS) son actualmente los equipos más utilizados en el tratamiento de los tatuajes traumáticos. Reportamos los resultados del tratamiento de nueve pacientes con este tipo de tatuajes. Materiales y métodos: Fue utilizado el láser Revlite (Hoya ConBio®) QS Nd:YAG 1064 nm. Los parámetros del equipo fueron ajustados en cada paciente variando entre los siguientes valores; diámetro de punta (spot size) 4-6 mm, energía 3,5-7 J/cm2 y 5-10 hercios (Hz). El tiempo mínimo entre cada sesión fue de ocho semanas. Se realizaron fotografías antes y después de cada sesión para evaluar el aclaramiento de las lesiones. Resultados: obtuvimos un aclaramiento completo(>95 por ciento) en tres pacientes en 1,6 +/- 0,5 sesiones y un excelente resultado (75 por ciento-95 por ciento) en un paciente luego de siete sesiones láser. De los cinco pacientes restantes, tres de ellos han tenido una buena respuesta (50 por ciento-75 por ciento) en 1,6 +/- 0,5 sesiones, sin embargo dos de ellos siguen en tratamiento. Solo dos pacientes obtuvieron un aclaramiento razonable (25 por ciento-50 por ciento), uno de ellos abandonó y el otro sigue en tratamiento. Conclusiones: El láser QS Nd:YAG1064 nm es eficaz para el tratamiento de los tatuajes traumáticos.

Introduction: Q-switched are the most used lasers in the treatment of traumatic tattoos. We report the results of treatment of nine patients with these tattoos. Materials and Methods: We used the Revlite QS Nd:YAG 1064 nm laser(Hoya ConBio®). The device parameters were adjusted for each patient varying between the following values; spot size4-6 mm, energy 3,5-7 J/cm2 and 5-10 Hz. The minimum time in between each session was eight weeks. Photographs were taken before and after each session to assess the clearance of the lesions. Results: We achieved a complete clearance (>95 percent) in three patients at 1.6 +/- 0.5 sessions and excellent results (75 percent-95 percent) in one patient after seven laser sessions. Of the remaining five patients, three of them have had a good response (50 percent-75 percent) in 1.6 +/- 0.5 sessions, however two of them are still under treatment. Only two patients had a reasonable clearance (25 percent-50 percent). Conclusion: QS laser Nd: YAG 1064 nm is effective in the treatment of traumatic tattoos.

Langerhans Cell Histiocytosis Presenting with Hypopigmented Macules.

Langerhans cell histiocytosis (LCH) is a complex disease characterized by proliferation of the Langerhans cells. The clinical course is variable and ranges from a solitary lytic bone lesion or skin lesion with complete remission to a multisystem disorder with possible lethal outcome. The diagnosis is suspected by clinical signs and symptoms and radiological features commonly in craniofacial bones and skin lesions. Diagnosis is confirmed by biopsy and immunohistochemical studies. We present case of a 8 year old child presenting with proptosis, diabetes insipidus and hypopigmented macules on chest and back showing bilateral distribution which is a rare presentation. Skin biopsy revealed the diagnosis of Langerhans cell histiocytosis.

Massive bleaching of coral reefs induced by the 2010 ENSO, Puerto Cabello, Venezuela

El Niño Southern Oscillation (ENSO) has generated global coral massive bleaching. The aim of this work was to evaluate the massive bleaching of coral reefs in Puerto Cabello, Venezuela derived from ENSO 2010. We evaluated the bleaching of reefs at five localities both at three and five meter depth. The coral cover and densities of colonies were estimated. We recorded living coral cover, number and diameter of bleached and nonbleached colonies of each coral species. The colonies were classified according to the proportion of bleached area. Satellite images (Modis Scar) were analyzed for chlorophyll-a concentration and temperature in August, September, October and November from 2008-2010. Precipitation, wind speed and air temperature information was evaluated in meteorological data for 2009 and 2010. A total of 58.3% of colonies, belonging to 11 hexacoral species, were affected and the greatest responses were observed in Colpophyllia natans, Montastraea annularis and Montastraea faveolata. The most affected localities were closer to the mainland and had a bleached proportion up to 62.73±36.55%, with the highest proportion of affected colonies, whereas the farthest locality showed 20.25±14.00% bleached and the smallest proportion. The salinity in situ varied between 30 and 33ppm and high levels of turbidity were observed. According to the satellite images, in 2010 the surface water temperatura reached 31ºC in August, September and October, and resulted higher than those registered in 2008 and 2009. Regionally, chlorophyll values were higher in 2010 than in 2008 and 2009. The meteorological data indicated that precipitation in November 2010 was three times higher than in November 2009. Massive coral bleaching occurred due to a three month period of high temperatures followed by one month of intense ENSO-associated precipitation. However, this latter factor was likely the trigger because of the bleaching gradient observed. Rev. Biol. Trop. 60 (2): 527-538. Epub 2012 June 01.

El Niño ha generado blanqueamientos masivos en todo el mundo. El objetivo del estudio fue evaluar el blanqueamiento masivo de los arrecifes coralinos de Puerto Cabello, Venezuela debido al efecto del ENSO, 2010. En cada arrecife se seleccionaron dos profundidades: tres y cinco metros. Para determinar las concentraciones de clorofila-a y la temperatura en los meses de Agosto a Noviembre 2008 al 2010 se analizaron imágenes de satélite (tipo Modis Scar 1km2 de resolución). La precipitación, la velocidad del viento y la temperatura del aire fueron evaluadas según datos metereológicos del 2009 y 2010. La cobertura coralina y la densidad de colonias fue estimada, se anotó la cobertura de coral vivo de cada especie y el número y diámetro de colonias sanas y con blanqueamiento. Cada colonia fue clasificada según su área con blanqueamiento. Un 58.3% del total de las colonias fueron afectadas, estas pertenecen a 11 especies hexacoralinas. Las localidades con mayor afectación fueron las más cercanas al continente, la cuales presentaron una proporción de blanqueamiento de hasta 62.73±36.55% y un mayor porcentaje de colonias afectadas, mientras que la localidad más lejana presentó un 20.25±14.00% y una menor proporción de colonias afectadas, respectivamente. La salinidad registrada in situ varió entre 30 y 33ppm y se observó un alto nivel de turbidez. Según las imágenes de satélite, en el 2010 se observó una temperatura del agua de hasta 31ºC en los meses de agosto, septiembre y octubre. Los valores de clorofila fueron mayores en 2010 que en 2008 y 2009. Los datos meterorológicos indicaron que los valores de precipitación del 2010 triplicaron los del 2009. El blanqueamiento masivo fue la consecuencia de tres meses de altas temperaturas seguido de un mes de intensas precipitaciones asociadas al ENSO. Sin embargo, este último factor probablemente fue el detonante debido al gradiente observado.

Etiologies des hypochromies acquises en milieu dermatologique

Introduction : Parmi les troubles pigmentaires rencontres chez les sujets a peau noire; l'hypochromie encore appelee tache claire est sans doute la plus affichante. Peu d'etudes ont ete effectues en milieu specialise. Le but de ce travail est d'etudier les etiologies hypochromies en milieu dermatologique a Bamako. Methodes : Nous avons mene une enquete transversale descriptive sur les etiologies des hypochromies acquises dans le service de Dermatologie du centre National d'Appui a la lutte contre la Maladie (CNAM; Ex Institut Marchoux). L'hypochromie etait definie par la presence d'une lesion plus claire que la peau avoisinante et dont le diametre etait superieur a 1 cm. Le diagnostique etait essentiellement base sur l'examen clinique. Resultats : La prevalence des taches hypochromiques etait de 3;42.Les principales etiologies etaient la dermatite seborrheique (23;3); les eczematides (20;15); le vitiligo (18;9); le pityriasis versicolore (18;5) et la lepre (12;6). Conclusion : Les etiologies des taches claires sont multiples et peuvent en cacher parfois une lepre qui bien que de plus en plus rare; reste une maladie encore presente en milieu dermatologique

Familial clustering of a rare syndrome.

Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.

Acquired macular hyperpigmentation an overview

Acquired hyperpigmentation is always difficult to diagnose and more difficult to treat satisfactorily. There are many conditions which need to be considered before making a diagnosis of acquired macular hyperpigmentation like erythema dyschromicum perstans, lichen planus pigmentosus, macular amyloidosis, tar and frictional melanosis, post-inflammatory hyperpigmentation, Berloque dermatitis, Riehl's melanosis and drugs and chemicals

Leucodermia punctata após tratamento com Puvasol tópico / Leukoderma punctata following topical PUVAsol treatment

Duas adolescentes e uma menina com vitiligo clinicamente diagnosticado foram tratadas com 8-metoxipsoraleno a 0,2 por cento em creme Lanette com subsequente exposição solar. Um ano após, apresentaram máculas acrômicas na área do vitiligo. A biópsia de pele em um dos casos revelou melanócitos com escassa pigmentação melânica. Os achados clínicos e histológicos sugerem o diagnóstico de leucodermia punctata.

Two adolescent females and a girl, all with clinically diagnosed vitiligo, were treated with 0.2 percent 8-methoxypsoralen cream followed by exposure to solar ultraviolet light. One year later, they developed hypopigmented and achromic spots on the areas affected by the vitiligo. Biopsy of skin tissue taken from one of these cases showed a marked reduction in melanin. Clinical and histological findings point to a diagnosis of leukoderma punctata.

Central posterior capsule pigmentation in a patient with pigment dispersion and previous ocular trauma: A case report.

We report a 55-year-old man with unusually dense, unilateral central posterior capsule pigmentation associated with the characteristic clinical features of pigment dispersion syndrome, including a Krukenberg's spindle and dense trabecular pigmentation in both eyes. A history of an old blunt ocular trauma probably caused separation of the anterior hyaloid from the back of the lens, thereby creating an avenue by which pigment could reach the potential space of Berger's from the posterior chamber.

female child with skin lesions and seizures case report of Incontinentia Pigmenti

Incontinentia Pigmenti [IP], [OMIM # 308300], is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system. It is usually lethal in males; the disease has variable expression in an affected female. We report the case of a 6 month old girl who presented at Sultan Qaboos University Hospital, Oman, with neonatal seizures and hypopigemented/hyperpigmented skin lesions. She had multiple ophthalmic abnormalities and neurological manifestations which are discussed in this report

Síndrome de Peutz-Jeghers complicado: reporte de un caso / Intestinal obstruction in a patient with Peutz-Jeghers syndrome: report of one case

El Síndrome de Peutz-Jeghers (SPJ), es una patología poco frecuente, hereditaria, autosómica dominante, caracterizada por la pigmentación de la mucosa oral y de la piel plantar y palmar, junto a una poliposis gastrointestinal de tipo hamartomatoso. En su crecimiento dicho pólipos pueden llegar a complicarse y causar intususcepción, obstrucción y hemorragias intestinales. La mutación genética asociada a éste síndrome es en el cromosoma 19p, en el gen STK 11, y en la enzima LKB 1, que disminuye su función de supresión de tumores. Hay un aumento de la enzima Cox-2, pudiendo llegar a asociarse a una mayor incidencia de cáncer gastrointestinal y extraintestinal, por lo que es importante una pesquisa precoz de los pólipos. El objetivo de este trabajo, es reportar un caso de Íleo mecánico a nivel del yeyuno proximal como una complicación aguda de una poliposis de larga evolución por SPJ, que consultó en nuestro Servicio de Urgencia y que requirió de una laparotomía exploradora.

The Peutz-Jeghers syndrome (PJS) is an uncommon hereditary autosomal dominant disease, characterized by pigmentation of oral mucosa, plantar and palmar skin and gastrointestinal hamartomatous polyposis. When these polyps grow they can cause intussusceptions, intestinal obstruction and hemorrhages. We report a 38 years oíd male admitted for an intestinal obstruction. He had pigmentations of lips and palms of the hands. He was operated, finding a dilatation and thickening of thefirst 50 cm of jejunum. In the zone of obstruction, three intraluminal tumors of approximately 3.5 cm diameter were palpated. Similar tumors were palpated in transverse and descending colon. Approximately 20 cm of dilated proximal jejunum were excised. The pathology report informed the presence of hamartomatous polyps, confirming the diagnosis of Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome in a girl with chronic abdominal pain

It is a report of a seven years old girl with Peutz-Jeghers syndrome. Mode of presentation, various investigations, pattern of family history and management aspect are reported

¿Es curable el cáncer de mama en etapa precoz?: Resultados del tratamiento combinado con cirugía, radioterapia y quimioterapia / Treatment results of early breast cancer: A retrospective review

Background: Breast cancer will develop in one out of ten women during their lifetime. Early diagnosis has increased in recent years. Aim: To describe a population of women with breast cancer stage T1N0M0. To analyze radiation therapy toxicity and to evaluate treatment results. Material and methods: Retrospective review of the medical records of 125 women (aged 35 to 80 years) with breast cancer T1N0M0, that were treated between January 1997 and May 2004, with breast conserving surgery and postoperative radiation therapy at an oncology center. Patients lost from follow up were contacted by telephone. Results: An abnormal screening mammography was the reason for consult in 62 percent of cases. The average tumor size was 11.6 mm. Tumors detected with screening mammogram were smaller than those detected on physical exam. The most common radiotherapy toxicity was erithema, which was severe in 2.5 percent of cases. No patient had to stop the radiation treatment due to toxicity. One patient developed arm edema. Tamoxifen was prescribed for 5 years to 80 percent of patients and 17 patients received chemotherapy. After an average follow up of 40 months, no patient has developed local breast relapse, three patients developed contralateral breast cancer and three developed distant metastasis. Two patients died from breast cancer. Disease free survival was 95 percent. Conclusions: Radiotherapy was well tolerated and had excellent local control. Screening mammography detects small tumors. Survival is excellent for early stage breast cancer.

Profile of systemic sclerosis in a tertiary care center in North India.

AIM: To study the clinical and immunological profile in patients of systemic sclerosis from North India and compare it with other ethnic groups. METHODS: Patients presenting to us between the years 2001 and 2004 and fulfilling the American Rheumatism Association (ARA) criteria for systemic sclerosis were included. There were 84 females and 16 males with the mean age of 32.5 +/-11.62 years and a mean duration of 6.49 +/- 4.34 years. All patients were admitted to the dermatology ward for detailed history and examination including Rodnan score. Investigations including hemogram, hepatic and renal functions, serum electrolytes, urine for albumin, sugar, microscopy and 24h urinary protein estimation, antinuclear antibody, chest X-ray, barium swallow, pulmonary function test, electrocardiogram and skin biopsy were done. RESULTS: The most common presenting symptoms were skin binding-down (98.5%), Raynaud's phenomenon 92.9%, pigmentary changes 91%, contracture of fingers 64.6%, fingertip ulcer 58.6%, restriction of mouth opening 55.5%, dyspnea 51.1%, joint complaints 36.7% and dysphagia in 35.2%. The mean Rodnan score was 25.81 +/- 10.04 and the mean mouth opening was 24.6 +/- 19.01 mm. The laboratory abnormalities included raised ESR in 87.8%, ANA positive in 89.1%, proteinuria in 6.0%, abnormal chest X-ray in 65.3%, abnormal barium swallow in 70.2% and reduced pulmonary function test in 85.8%. CONCLUSION: The clinical and immunological profile of systemic sclerosis in North India is similar to that of other ethnic groups except that pigmentary changes are commoner and renal involvement is relatively uncommon.

Cutaneous manifestations in patients with chronic renal failure on hemodialysis.

BACKGROUND: Chronic renal failure (CRF) presents with an array of cutaneous manifestations. Newer changes are being described since the advent of hemodialysis, which prolongs the life expectancy, giving time for these changes to manifest. AIM: The aim of this study was to evaluate the prevalence of dermatologic problems among patients with chronic renal failure (CRF) undergoing hemodialysis. METHODS: One hundred patients with CRF on hemodialysis were examined for cutaneous changes. RESULTS: Eighty-two per cent patients complained of some skin problem. However, on examination, all patients had at least one skin lesion attributable to CRF. The most prevalent finding was xerosis (79%), followed by pallor (60%), pruritus (53%) and cutaneous pigmentation (43%). Other cutaneous manifestations included Kyrle's disease (21%); fungal (30%), bacterial (13%) and viral (12%) infections; uremic frost (3%); purpura (9%); gynecomastia (1%); and dermatitis (2%). The nail changes included half and half nail (21%), koilonychia (18%), onychomycosis (19%), subungual hyperkeratosis (12%), onycholysis (10%), splinter hemorrhages (5%), Mees' lines (7%), Muehrcke's lines (5%) and Beau's lines (2%). Hair changes included sparse body hair (30%), sparse scalp hair (11%) and brittle and lusterless hair (16%). Oral changes included macroglossia with teeth markings (35%), xerostomia (31%), ulcerative stomatitis (29%), angular cheilitis (12%) and uremic breath (8%). Some rare manifestations of CRF like uremic frost, gynecomastia and pseudo-Kaposi's sarcoma were also observed. CONCLUSIONS: CRF is associated with a complex array of cutaneous manifestations caused either by the disease or by treatment. The commonest are xerosis and pruritus and the early recognition of cutaneous signs can relieve suffering and decrease morbidity.