Porfiria hepato eritropoyética asociada a diabetes mellitus tipo 1: a propósito de un caso clínico / A clinical case of hepato-erythropoietic porphyria associated with type 1 diabetes mellitus / Relato de caso de porfiria hepato-eritropoiética associada a diabetes mellitus tipo 1

Las porfirias son un grupo complejo y heterogéneo de defectos en la vía de la síntesis del hemo. La porfiria hepato eritropoyética es un subtipo muy poco frecuente y de presentación en la infancia, con compromiso cutáneo predominante. Describimos el caso clínico de una paciente de 5 años, que se presenta con lesiones cutáneas e hipertricosis, se confirma el diagnóstico por elevación de uroporfirinas en orina y secuenciación del gen UROD.

Porphyria is a complex and heterogeneous group of heme synthesis disorder. Hepato-erythropoietic porphyria is a very rare subtype that onsets in childhood, and shows predominant skin involvement. We describe the clinical case of a 5-year-old patient who showed skin lesions and hypertrichosis and whose diagnosis was confirmed due to increased uroporphyrins in urine and UROD gene sequencing

A porfiria é um grupo complexo e heterogêneo de distúrbios da síntese do grupo heme. A porfiria hepato-eritropoiética é um subtipo muito raro que se inicia na infância e mostra envolvimento predominante da pele. Descrevemos o caso clínico de uma paciente de 5 anos que apresentou lesões cutâneas e hipertricose e cujo diagnóstico foi confirmado por aumento de uroporfirinas na urina e sequenciamento do gene UROD.

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report / Síndrome de Wiedemann-Steiner por una nueva variante patogénica en KMT2A: reporte de un caso

Abstract Case Description: We report the case of a one-year-old girl who was diagnosed with Wiedemann-Steiner Syndrome based on the identification of a novel de novo frameshift mutation in the KMT2A gene by whole exome sequencing and supported by her clinical features. Clinical Findings: KMT2A mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital hypertrichosis, short stature, intellectual disability, and distinct facial features. Treatment and Outcome: Whole exome sequencing identified a novel frameshift variant: c. 4177dupA (p.Ile1393Asnfs * 14) in KMT2A; this change generates an alteration of the specific binding to non-methylated CpG motifs of the DNA to the protein. The genotype and phenotype of the patient were compared with those of earlier reported patients in the literature. Clinical Relevance: In diseases with low frequency, it is necessary to establish a genotype-phenotype correlation that allows the establishment of therapeutic and follow-up goals. The phenotype comparation with other reported cases did not show differences attributable to sex or age among patients with Wiedemann-Steiner Syndrome. Whole exome sequencing allows identifying causality in conditions with high clinical and genetic heterogeneity like hypertrichosis.

Resumen Descripción del caso: Se reporta el caso de una paciente femenina de un año de edad, diagnosticada con Síndrome de Wiedemann-Steiner basado en la identificación de una nueva variante patogénica de novo de tipo frameshift en el gen KMT2A Mediante secuenciación de exoma usando el enfoque de trio, sumado a sus características clínicas. Hallazgos clínicos: las mutaciones en KMT2A causan el Síndrome de Wiedemann-Steiner, un desorden genético muy raro caracterizado por hipertricosis congénita, talla baja, retardo mental variable y fenotipo facial distintivo, los cuales se encuentran en la paciente reportada. Resultado: La Secuenciación de exoma completo encontró una variante de tipo frameshift: c.4177dupA (p. Ile1393Asnfs * 14) en KMT2A, este cambio a nivel génico genera una alteración de la unión específica a motivos CpG no metilados del DNA a la proteína. El genotipo y el fenotipo de la paciente fue comparado con los pacientes reportados previamente en la literatura. Relevancia clínica: En enfermedades con baja frecuencia como la aquí reportada es necesario establecer correlaciones genotipo-fenotipo que permitan establecer planes terapéuticos y de seguimiento. El análisis realizado no evidenció diferencias atribuibles a sexo o edad entre los pacientes diagnosticados con Síndrome de Weidemann-Steiner. La secuenciación de exoma permitió identificar causalidad en este caso, cuya característica principal de hipertricosis se asocia con alta heterogeneidad clínica y genética.

Hipertricosis cubital en una paciente con pubarquia precoz: Caso clmico / Hypertrichosis cubiti in a girl with precocious puberty: Case report

La hipertricosis cubital es un aumento localizado de la densidad, longitud y espesor del vello. Es una entidad benigna con muy escasos pacientes descritos en la literatura médica (alrededor de medio centenar). La mitad de los casos descritos asocian otros defectos o malformaciones, y la otra mitad son problemas puramente estéticos. La pubarquia precoz en niñas se define como el inicio del vello púbico antes de los 8 años de edad. Se presenta a una paciente de 6 años con la asociación no descrita previamente de hipertricosis cubital y pubarquia precoz.

Hypertrichosis cubiti is a localized increase in hair density, length and thickness. It is an uncommon and benign entity with very few patients described in the medical literature (more or less than half a hundred). Half of the described patients associate other defects or malformations and the other half are purely aesthetic cases. Early pubarche in girls is defined as the onset of pubic hair before 8 years of age. We present a six-year-old patient with the association not previously described of hypertrichosis cubiti and precocious pubarche.

Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism

Abstract Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.

Síndrome H: primer caso pediátrico reportado en América Latina / H syndrome: First reported paediatric case in Latin America

Introducción: El síndrome H es una enfermedad genética extremadamente rara de compromiso multisistémico, el cual clínicamente puede ser reconocido de forma precoz, ofreciendo de manera oportuna un seguimiento, tratamiento específico y asesoramiento genético. Objetivo: Presentar un caso con características «típicas del síndrome H¼ para favorecer su identificación precoz. Caso clínico: Varón de 8 años de edad, evaluado por tumoraciones testiculares, lesiones dérmicas tipo hiperpigmentación con hipertricosis, retraso del lenguaje, talla baja, deformidades articulares, hipoacusia neurosensorial bilateral, anemia, hipergammaglobulinemia y alteraciones óseas. En los estudios histológicos de la piel y las masas testiculares se observó infiltración linfoplasmocitaria. El secuenciamiento del gen SLC29A3 detectó una mutación homocigota c.1087 C>T (p.Arg363Trp; rs387907067) concluyente con el síndrome H, la cual ha sido reportada previamente. Conclusiones: Este es el primer caso reportado en Latinoamérica del síndrome H, cuyas características descritas son parte del espectro clínico. El hallazgo clínico principal, que orienta al diagnóstico, es la hiperpigmentación acompañada de hipertricosis.

Introduction: H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. Objective: To present a clinical case with "typical" characteristics of H Syndrome. Clinical case: The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). Conclusions: These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis.

Hipertricosis cervical anterior: caso dínico / Anterior cervical hypertrichosis: case report

La hipertricosis cervical anterior no sindrómica (OMIM N° 600457) es un desorden genético caracterizado por un parche de pelo a nivel de la prominencia laríngea. Se presenta a un niño de 12 años de edad con hipertricosis cervical anterior e hipertricosis generalizada leve, sin alteraciones neurológicas, oftalmológicas ni esqueléticas, en seguimiento clínico por un lapso de 10 años.

The non-syndromic anterior cervical hypertrichosis (OMIM N° 600457) is a genetic disorder characterized by a patch of hair at the level of the laryngeal prominence. We present a 12-year-old boy with anterior cervical hypertrichosis and mild generalized hypertrichosis. He has no neurological, ophthalmological or skeletal anomalies. The clinical follow up is 10 years.

Infantile generalized hypertrichosis caused by topical minoxidil

Abstract Rare cases of hypertrichosis have been associated with topically applied minoxidil. We present the first reported case in the Brazilian literature of generalized hypertrichosis affecting a 5-year-old child, following use of minoxidil 5%, 20 drops a day, for hair loss. The laboratory investigation excluded hyperandrogenism and thyroid dysfunction. Topical minoxidil should be used with caution in children.

Manifestaciones cutáneas en adultos con trasplante hepático del Hospital Clínico de la Universidad de Chile / Skin manifestations in adults with a liver allograft

Background: Skin manifestations after liver transplantation are increasing due to long term immunosuppressive therapy along with an increase in patient survival. Several studies have reported dermatologic complications following renal transplant, but few have studied dermatologic problems after liver transplantation. Aims: To describe the different types of cutaneous lesions encountered in adults receiving a liver allograft. To evaluate the frequency of cutaneous manifestations of patients in the liver transplant waiting list. Material and Methods: Eighty patients submitted to a liver transplant and 70 patients in the liver transplant waiting list were evaluated with a complete dermatological physical examination. Results: Sixty one percent of patients with a liver allograft had at least one skin manifestation. Of these, 34% had superficial fungal infections, 31% had viral infections, 20% had cutaneous side effects due to immunosuppressive treatment, 10% had malignant lesions, 2% had bacterial infections and one patient had a graft versus host disease. Only 28% of patients in the liver transplant waiting list had dermatologic problems, and the vast majority were lesions linked to liver cirrhosis. Conclusions: Cutaneous infections were the most common skin problems in liver transplant patients. Although neoplastic lesions are the most commonly mentioned lesions in the literature, only a 10% of our liver transplant patients presented these type of lesions.

Do you know this syndrome? / Você conhece esta síndrome?

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

A hipertricose Lanugionsa Congênita é uma desordem genética rara, autossômica dominante, com menos de 50 casos descritos na literatura. É caracterizada por pêlo lanugo excessivo, poupando apenas membranas mucosas, palmas e plantas. Pode estar associada a outras anormalidades orgânicas, devendo ser de conhecimento do dermatologista. Discutiremos aspectos da síndrome em questão a partir do relato de caso de uma paciente do sexo feminino, negra, 02 anos, com apresentação clínica clássica, sem outras anormalidades congênitas associadas.

Essential trichomegaly: case report / Tricomegalia essencial: relato de caso

The present study reports two cases of symptomatic essential trichomegaly. Trichomegaly may develop in various diseases, including anorexia nervosa, hypothyroidism, pregnancy, pretibial myxedema, systemic lupus erythematosus, vernal keratoconjunctivitis, and uveitis. The exact incidence trichomegaly is unknown, and the condition remains sporadically reported. Two cases of symptomatic trichomegaly without any associated systemic disorder are presented in this paper.

O presente estudo tem por objetivo relatar dois casos de tricomegalia essencial com diminuição da acuidade visual. A tricomegalia pode se desenvolver em várias doenças, incluindo anorexia nervosa, hipotireoidismo, gravidez, mixedema pré-tibial, lúpus eritematoso sistêmico, ceratoconjuntivite primaveril, e uveíte. A incidência da tricomegalia essencial é desconhecida e a condição permanece esporadicamente relatada. São apresentados dois casos de tricomegalia sintomática em pacientes sem distúrbios sistêmicos associados.

Marcadores cutáneos de disrafia espinal oculta: reporte de 5 casos / Skin markers of occult spinal dysraphism: report of 5 cases

Las disrafias espinales ocultas son patologías caracterizadas por la fusión incompleta del tubo neural, en las que la lesión se encuentra cubierta por piel y no hay exposición del tejido nervioso. El diagnóstico precoz es de gran importancia, ya que la corrección quirúrgica oportuna puede prevenir daño neurológico irreversible. Existen alteraciones cutáneas que se asocian a la presencia de disrafias espinales ocultas. Debido a que en muchos casos estos marcadores cutáneos son la única manifestación inicial de estas alteraciones, es fundamental que el pediatra esté familiarizado con ellos, para poder realizar un estudio diagnóstico y terapéutico adecuado. Dentro de los marcadores cutáneos descritos en la literatura, una combinación de dos o más alteraciones cutáneas congénitas de la línea media constituye probablemente el predictor más importante de disrafia espinal oculta. Lesiones como el lipoma de la línea media y la cola de fauno son los marcadores aislados de mayor riesgo. Actualmente las disrafias espinales ocultas cuentan con cobertura GES, por lo que todo paciente en el que se sospeche el diagnóstico, debe ser derivado a neurocirujano, quien deberá evaluarlo en un plazo máximo de tres meses.

Occult spinal dysraphism are diseases characterized by the incomplete fusion of the neural tube, where the lesion is covered by skin and there is no exposure of nerve tissue. Early diagnosis is very important, because prompt surgical correction can prevent irreversible neurological damage. There are usually skin changes associated with the presence of occult spinal dysraphism. Because in many cases these skin lesions are the only initial manifestation of the disease, it’s essential for the pediatrician to know them well, for achieving a timely and appropriate diagnosis. Among the skin markers described in the literature, a combination of two or more skin lesions of the midline is probably the best predictor of occult spinal dysraphism. Lesions such as lipoma of the midline and faun tail have the highest risk for these disorders. Occult spinal dysraphism have GES financing, so every patient in whom the diagnosis is suspected should be referred to a neurosurgeon, who will perform an evaluation within three months.

Blefarite e tricomegalia induzidas pelo cetuximabe / Blepharitis and trichomegaly induced by cetuximab

Nós descrevemos uma mulher de 41 anos em tratamento de câncer colorretal avançado que, após a segunda dose de cetuximabe, desenvolveu intensa blefarite e tricomegalia bilateral. A toxicidade ocular decorrente do cetuximabe tem sido relatada, porém ainda tem mecanismos fisiopatogênicos incertos.

This report describes the case of a 41-year old woman in treatment for advanced colorectal cancer who developed severe bilateral blepharitis and trichomegaly after the second dose of cetuximab. Cetuximab-related eyelid toxicity has been described previously; however, its pathogenesis has not yet been clearly established.

Síndrome do nevo de Becker / Becker nevus syndrome

A síndrome do nevo de Becker é considerada um fenótipo caracterizado pela presença fundamental do nevo de Becker associado à hipoplasia mamária unilateral ou a outras alterações cutâneas, esqueléticas e/ou musculares. Geralmente, surge ao nascimento, aumenta significativamente na adolescência e é uma das síndromes que constituem a síndrome do nevo epidérmico. O artigo relata o primeiro caso da literatura brasileira da síndrome do nevo de Becker em uma paciente de 14 anos com associação de nevo de Becker, hipoplasia mamária unilateral e escoliose.

Becker nevus syndrome is a phenotype characterized by the fundamental presence of Becker's nevus with ipsilateral hypoplasia of the breast or other skin, skeletal and/or muscular disorders. This syndrome generally originates at birth, intensifies significantly in adolescence and is one of the syndromes that constitute epidermal nevus syndrome. To the best of our knowledge, this is the first case published in the Brazilian literature of Becker nevus syndrome associated with Becker's nevus, ipsilateral breast hypoplasia and scoliosis in a 14-year-old girl.

Dermatoses paraneoplásicas / Paraneoplastic dermatosis

Esse artigo tem como objetivo correlacionar as principais dermatoses paraneoplásicas com os tumores mais freqüentemente envolvidos, visando à elucidação das lesões elementares presentes, bem como de suas implicações clínicas. Desse modo, torna-se possível o conhecimento do diagnóstico e das recidivas dos tumores envolvidos.

Síndrome de Hurler: a propósito de un caso / Hurler syndrome: clinical case

La mucopolisacaridosis tipo I es una enfermedad de depósito lisosomal, autosómica recesiva, de baja incidencia, aproximadamente 1:100.000 recién nacidos. Su etiología es el déficit de la glicosidasa, -L-iduronidasa (IDUA), que es una enzima que degrada los glicosaminoglicanos (GAG), heparán sulfato y dermatán sulfato. El déficit causa su acumulación progresiva a nivel intralisosomal, y posteriormente desencadena el daño a nivel celular y tisular. La gran heterogeneidad fenotípica depende del tipo de mutación del gen IDUA, ubicado en el cromosoma 4p16.3. Los casos más severos se denominan síndrome de Hurler, los intermedios, síndrome de Hurler-Scheie y el fenotipo más atenuado corresponde al síndrome de Scheie.1 Los pacientes con síndrome de Hurler habitualmente fallecen en la primera década de vida. En el síndrome de Scheie la sobrevida es normal y su sintomatología es más atenuada. El síndrome de Hurler-Scheie tiene un curso intermedio, falleciendo cerca de los 20 años por compromiso cardiorrespiratorio. La fascies tosca, talla baja, retraso del desarrollo psicomotor progresivo, opacidad corneal y hepatomegalia deben plantear la sospecha clínica de la forma más severa de esta enfermedad, que es letal sin tratamiento. El objetivo de esta comunicación es presentar un caso de síndrome de Hurler con manifestaciones cutáneas como motivo de consulta.

Mucopolysaccharidosis type I is an autosomal recessive genetic disorder that has a low incidence of approximately 1:100.000 new born. It is caused by the deficiency of -L- iduronidase (IDUA), a lysosomal enzyme involved in the degradation of the glycosaminoglycans, heparan sulfate and dermatan sulfate. This deficient activity leads to intracellular accumulation and ultimately compromises cellular and organ function. The -L- iduronidase gene (IDUA) is located on chromosome 4p16.3. The phenotypic heterogeneity ranging from the most severe (Hurler syndrome) to the most attenuated phenotype (Scheie syndrome) is related to the different mutations.1 Life expectancy for Hurler disease is less than ten years; Scheie syndrome has a normal survival rate and its symptomatology is less severe; Hurler-Scheie syndrome follows an intermediate line and life expectancy is approximately twenty years due to cardiorespiratory complications. The most appropriate approach to patients with coarse facial features, short stature, hepatosplenomegaly, corneal clouding and progressive mental retardation is to perform a diagnostic test to rule out the presence of a mucopolysaccharidosis. Early diagnosis and adequate treatment prevent its progression, which can otherwise be lethal. We present a case of Hurler syndrome with cutaneous symptoms whose reason for consultation was dermatological.