Acrodermatitis enteropática en lactante femenina de 6 meses de edad / Acrodermatitis enteropathica in 6- months-old female infant

Introducción: La acrodermatitis enteropática es una dermatosis nutricional heredada o adquirida por deficiencia de zinc que clínicamente se caracteriza por eritema, escamocostras y erosiones, especialmente en la región perioral, en zonas acras y en la región anogenital. Además de una ingesta oral inadecuada, hay causas secundarias de esta deficiencia nutricional. Objetivo: Referir una dermatosis nutricional secundaria infrecuente en lactante femenina. Presentación de caso: Pequeñita de 6 meses de edad, fototipo III, alimentada con lactancia materna exclusiva, que acude a consulta especializada de dermatología en el hospital William Soler por cuadro clínico de 3 meses de evolución caracterizado por lesiones eritematocostrosas en regiónes acrales y periorificiales. Los padres refirieron lactancia materna exclusiva. Se realizaron complementarios Conclusiones: Las deficiencias de vitaminas y oligoelementos pueden ocasionar un amplio rango de hallazgos mucocutaneos. En el caso presentado diagnosticado como acrodermatitis enteropática adquirida, hay un aporte inadecuado de zinc en la leche materna(AU)

Introduction: Acrodermatitis enteropathica is an inherited or acquired nutritional dermatosis by zinc deficiency that is clinically characterized by erythema, squamous crusts and erosions, especially in the perioral region, in acral areas and in the anogenital region. In addition to inadequate oral intake, there are secondary causes of this nutritional deficiency. Objective: To refer a nutritional dermatosis uncommon in female infants. Case presentation: 6-months-old baby girl, skin phototype III, fed with exclusive breastfeeding whom was attended in the specialized consultation in Dermatology of William Soler Pediatric Hospital due to clinical framework of 3 months of evolution characterized by eritemato crusty lesions in acral and periorifices´ regions. Parents commented on exclusive breastfeeding. There were made complementary blood tests. Conclusions: The deficiencies of vitamins and trace elements may cause a wide range of mucocutaneous findings. In the presented case diagnosed as adquired acrodermatitis enteropathica, there is an inadequate intake of zinc in breast milk(AU)

Acrodermatitis enteropática ampollosa / Bullous Acrodermatitis Enteropathica

La acrodermatitis enteropática (AE) es una genodermatosis autosómica recesiva causada por la mutación del gen responsable de codificar a la proteína transportadora de Zinc (Zn) SLC39A4. A pesar de ser una rara enfermedad es de fácil manejo y gran relevancia clínica. Se caracteriza por la siguiente tríada: dermatitis acral y periorificial, diarrea y alopecia. Comunicamos un caso de presentación atípica en una lactante de 6 meses de edad con lesiones periorificiales y ampollas acrales que resolvió rápidamente con la terapia suplementaria con Zinc (AU)

Enteropathic acrodermatitis is an autosomal recessive genodermatosis caused by the mutation of the gene responsible for encoding the Zinc transporter protein SLC39A4. Despite being a rare disease, it is easy to manage and of great clinical relevance. It is characterized by the following triad: acral and periorificial dermatitis, diarrhea and alopecia. We report a case of atypical presentation in an almost 6-month-old infant with periorificial lesions and acral blisters that quickly resolved with supplemental Zinc therapy (AU)

Acrodermatitis continua de Hallopeau y artritis psoriática: reporte de caso / Acrodermatitis continua of Hallopeau and psoriatic arthritis: a case report

Un hombre de 44 años, previamente sano, consultó por poliartralgias asimétricas de características inflamatorias de tres meses de evolución, que comprometió pequeñas y grandes articulaciones. Poco tiempo después desarrolló pústulas periungueales sobre una base eritematosa y degeneración progresiva de la lámina ungueal del pulgar izquierdo, limitando severamente su funcionalidad. Destacó al examen físico la presencia de placas eritemato-escamosas y pustulosas bien delimitadas en el primer y tercer dedo de la mano izquierda con onicodistrofia severa, que fue un aspecto clave para establecer el diagnóstico de acrodermatitis continua de Hallopeau. Adicionalmente, se observaron otros hallazgos del espectro psoriático: parches eritematosos en el escroto, placas eritemato-escamosas con costras hemorrágicas en ambas rodillas y dactilitis. Se confirmó histológicamente el diagnóstico de psoriasis inversa, psoriasis en placas y psoriasis pustular, respectivamente y con los criterios de Classification Criteria for Psoriatic Arthritis, CASPAR, el diagnóstico de artritis psoriática.

A 44-year-old man, previously healthy, consulted for a three-month history of asymmetrical polyarthralgia with inflammatory features involving small and large joints. A few days later, he developed erythema covered by pustules in the nail folds and progressive degeneration of the nail plate of the left thumb, with severe functional limitation. The physical exam showed well-defined erythematous scaly and pustular plaques in the first and third fingers of the left hand, with severe onychodystrophy, which was a key aspect in the diagnosis of acrodermatitis continua of Hallopeau. Other signs of the psoriatic spectrum were observed: erythematous patches of the scrotum, erythematous scaly plaques with hemorrhagic crusts on both knees, and dactylitis. The diagnosis of inverse psoriasis, plaque psoriasis, and pustular psoriasis, respectively, were confirmed by histopathology and, with the CASPAR criteria, psoriatic arthritis. This case is of particular dermatological interest due to the variety of psoriatic manifestations recognized in a single patient and because of the poorly described association between acrodermatitis continua of Hallopeau with psoriatic arthritis.

Escabiasis costrosa imitando una acrodermatitis continua de Hallopeau / Crusted scabies mimicking an acrodermatitis continua of Hallopeau

Resumen Introducción: La escabiasis costrosa (EC) es una variante poco común de sarcoptiosis clásica, altamente contagiosa. Las lesiones poseen una elevada concentración del ácaro Sarcoptes scabiei var hominis, lo que conlleva a un cuadro clínico más extenso que en la escabiasis clásica. Se observa principalmente en pacientes con algún tipo de inmunocompromiso y se relaciona con el síndrome de Down. Caso clínico: Se describe una paciente pediátrica con síndrome de Down quien presentó placas escamosas que afectaron la porción distal de los dedos, asociadas con distrofia ungueal e hiperqueratosis subungueal, por lo que se consideró acrodermatitis continua de Hallopeau como diagnóstico diferencial. Se realizó una biopsia tipo punch con lo que se llegó al diagnóstico de EC. La paciente recibió tratamiento sistémico con ivermectina vía oral y tratamiento tópico con crema hidratante y desonida al 0.1%. Mostró mejoría clínica notoria dos semanas después de finalizar el tratamiento. Conclusiones: La EC es una variante prevalente en pacientes inmunocomprometidos y con síndrome de Down que fácilmente puede confundirse con patologías inflamatorias con alteración de la queratinización epidérmica. Este caso se considera una presentación atípica debido a la afección localizada en los dedos de las manos asociada con distrofia ungueal. El estudio histopatológico fue necesario para realizar el diagnóstico y descartar diagnósticos diferenciales.

Abstract Background: Crusted scabies (CS) is an uncommon, highly contagious, variant of classic scabies. Elevated concentrations of the mite Sarcoptes scabiei var. hominis are found in the skin lesions, which lead to a more exaggerated clinical picture than in classic scabies. This disease is mainly observed in patients with any kind of immunosuppression and relates to Down syndrome. Case report: A pediatric female patient with Down syndrome, who presented a crusty white plaque associated with nail dystrophy and subungual hyperkeratosis affecting the distal portion of the fingers is described. Because of these findings, the diagnosis of acrodermatitis continua of Hallopeau was considered. A punch biopsy was performed, attaining the diagnosis of CS. She received systemic treatment with oral ivermectin, topical treatment with emollient cream and desonide 0.1%. Notorious clinical improvement was observed two weeks after finalizing treatment. Conclusions: CS is variant of scabies prevalent in immunocompromised patients and Down syndrome that can be easily confused with inflammatory pathologies with abnormal epidermal keratinization. This case is considered as an atypical presentation of the disease because of local affection of the fingers and nail dystrophy. The histopathological study was necessary to obtain the diagnosis and rule out differential diagnosis.

Acrodermatite enteropática: manifestações clínicas e diagnóstico pediátrico / Acrodermatitis enteropathica: clinical manifestations and pediatric diagnosis

RESUMO Objetivo: Relatar um caso de acrodermatite enteropática, doença rara com herança autossômica recessiva. Relato de caso: Menino de 11 meses de idade apresentava lesões eritematosas simétricas na face, pés, mãos e joelhos, diarreia intermitente, febre e infecções recorrentes desde os seis meses de idade. Ele estava emagrecido e tinha cabelos escassos no couro cabeludo. Foi solicitada a avaliação da concentração sérica de zinco e identificado um nível reduzido de 27,0 mcg/dL (valores de referência: 50,0-120,0). Foi iniciada a suplementação oral com 2,0 mg/kg/dia de sulfato de zinco. Houve melhora rápida e progressiva dos sintomas. Os sintomas reapareceram quando houve uma tentativa de descontinuar a suplementação. Comentários: Reconhecer e tratar adequadamente a acrodermatite enteropática é importante para evitar as complicações da doença.

ABSTRACT Objective: To report a case of acrodermatitis enteropathica, a rare disease with autosomal recessive inheritance. Case description: An 11-month-old boy was presenting symmetrical erythematous and yellowish-brownish crusted lesions on his face, feet, hands and knees, intermittent diarrhea, fever, and recurrent infections since the age of six months. He was thin and had scarce hair on the scalp. The serum zinc level was measured and a reduced level of 27.0 mcg/dL (normal range: 50.0-120.0) was identified. Oral supplementation with 2.0 mg/kg/day of zinc sulfate was immediately initiated. A rapid and progressive improvement of symptoms was observed. The symptoms reappeared with an attempt to stop supplementation. Comments: Recognizing and properly treating acrodermatitis enteropathica is important to prevent complications.

Acroqueratoelastoidosis: Presentación de un caso caracterizado por ausencia de fibras elásticas / Acrokeratoelastoidosis: presentation of a case characterized by absence of elastic fibers

En el año 1953, Costa describe un cuadro clínico caracterizado por la aparición de pápulas hiperqueratóticas en márgenes laterales de manos y pies, que se asociaba en el examen histológico a cambios epidérmicos (hiperortoqueratosis y acantosis) y particularmente a la reducción y/o fragmentación de fibras elásticas, motivo por el cual esta entidad, considerada actualmente una genodermatosis, recibió el nombre de acroqueratoelastoidosis (AQE). Presentamos un caso en el que destaca la ausencia de fibras elásticas (AU)

In 1953, Costa described a clinical entity characterized by the appearance of hyperkeratotic papules on the lateral margins of the hands and feet, which was associated with epidermal changes (hyperortokeratosis and acanthosis) and to the reduction and /or fragmentation of elastic fibers at histological examination. This entity was named acrokeratoelastoidosis and is currently considered to be a genodermatosis. A case characterized by the absence of elastic fibers is reported.

Acropigmentación reticulada de Dohi: revisión de genodermatosis con pigmentación reticular a partir de un caso clínico / Reticulated acropigmentation of Dohi: review of genodermatosis with reticular pigmentation

La acropigmentación reticulada de Dohi (ARD) o discromía simétrica hereditaria se encuentra dentro de los desórdenes con pigmentación reticular hereditaria. Es una rara entidad que se describió por primera vez en 1929 en Japón por Toyama. Presenta herencia autosómica dominante y el gen responsable se encuentra en el cromosoma 1q21 que codifica para una proteína ARN-adenosina desaminasa (ADAR1 o DSRAD). A pesar, que es un desorden benigno y no reviste complicaciones suele ser estéticamente desfigurante. A continuación, se presenta un caso clínico y se realizará una revisión de la literatura de los otras genodermatosis con pigmentación reticular.

Hereditary symmetric dyschromatosis, also known as reticulated acropigmentation of Dohi is included within a spectrum of reticulate pigment disorders of the skin. It’s a pigmentary disorder characterized by the presence of hypopigmented and hyperpigmented macules giving a reticular pattern in acral areas. It is a rare entity first described in 1929 by Toyama in Japan. It has autosomal dominant inheritance and the responsible gene codes for an RNA adenosine deaminase protein (ADAR1 or dsRAD) on chromosome 1q21. Although, it`s a benign disorder, it can be aesthetically disfiguring. We present a case report and review of the literature of genodermatosis with reticular pigmentation.

Acrodermatitis enteropática: caso clínico y revisión de la literatura / Acrodermatitis enteropathica: report of one case

Acrodermatitis enteropathica is an uncommon disease caused by hereditary or acquired zinc deficiency. It is characterized by a triad of alopecia, diarrhea and acraland periorificial dermatitis. It is treated with Zinc supplementation. We report a31-year-old indigent and drug addict female with a cutaneous-mucous syndromecharacteristic of acrodermatitis enteropathica. She had a positive clinical evolutionafter Zinc supplementation.

Síndrome de Gianotti-Crosti: reporte de dos casos y revisión de la literatura / Gianotti-Crosti syndrome: report of 2 cases and literature review

El síndrome de Gianotti-Crosti, también llamado acrodermatitis papular de la infancia, es un exantema infrecuente de la infancia, que se presenta generalmente en niños entre 1 y 6 años de edad. Dado que estos pacientes generalmente son llevados a su pediatra, es fundamental el conocimiento de las características de este síndrome. El cuadro clínico se caracteriza por una reacción pápulo-vesicular asintomática y autolimitada de distribución simétrica en cara, nalgas y superficies extensoras de las extremidades, formando placas o permaneciendo aisladas. El tronco generalmente se encuentra respetado y las lesiones usualmente no son pruriginosas. Se reportan los casos de dos pacientes que consultaron en el Servicio de Dermatología de la Pontificia Universidad Católica de Chile, por un cuadro compatible con síndrome de Gianotti-Crosti. A propósito de los casos, se presentan los aspectos más relevantes sobre esta patología.

The Gianotti-Crosti syndrome, also known as papular acrodermatitis of childhood, is an uncommon rash that usually occurs in children between 1 and 6 years old. Given that these patients are usually brought to their pediatrician, it is essential to know the characteristics of this syndrome. The clinical picture is characterized by a self-limited and asymptomatic papulo-vesicular reaction, symmetrically distributed on the face, buttocks and extensor surfaces of the extremities. The trunk is generally respected and the lesions are usually not itchy. We report the cases of two patients treated at the Dermatology Department at the Pontificia Universidad Católica de Chile, with symptoms consistent with Gianotti-Crosti syndrome. We also present the most relevant aspects of this disease.

Dermatoses neutrofílicas: parte II / Neutrophilic dermatoses: part II

Neste artigo são abordadas as dermatoses neutrofílicas, complementando o artigo anterior (parte I). São apresentadas e comentadas as seguintes dermatoses: pustulose subcórnea de Sneddon-Wilkinson, dermatite crural pustulosa e atrófica, pustulose exantemática generalizada aguda, acroder matite contínua de Hallopeau, pustulose palmoplantar, acropustulose infantil, bacteride pustular de Andrews e foliculite pustulosa eosinofílica. Uma breve revisão das dermatoses neutrofílicas em pacientes pediátricos também é realizada.

This article addresses neutrophilic dermatoses, thus complementing the previous article (part I). The following dermatoses are introduced and discussed: subcorneal pustular dermatosis (Sneddon-Wilkinson disease), dermatitis cruris pustulosa et atrophicans, acute generalized exanthematous pustulosis, continuous Hallopeau acrodermatitis, palmoplantar pustulosis, infantile acropustulosis, Andrews' pustular bacteride and eosinophilic pustular folliculitis. A brief review of neutrophilic dermatoses in pediatric patients is also conducted.

Fulminant candida infection in an infant with acrodermatitis enteropathica.

Acrodermatitis Enteropathica (AE) is an important nutritional disorder of children affecting both innate and cell mediated immunity. It predisposes to secondary bacterial and candida superinfections. We describe an infant with typical features of AE who had candida infection with a fulminant course. Need of early recognition and prompt initiation of therapy for fungal infection in AE is emphasized.

Acroqueratoelastoidosis: caso clínico corto / Acrokeratoelastoidosis: short clinical case

We present a 45 years old woman, with papules traslucent keratotic in lateral margins of hands, non familial, whit diagnosis histologically of acrokeratoelastoidosis, this rare condition

Biotinidase deficiency presenting with dermal manifestations of acrodermatitis enteropathica

Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinidase enzyme is essential for release of biotin from apoenzymes. Absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. Clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impairment and immunodeficiency. With early diagnosis and treatment with biotin supplements, it is possible to prevent clinical manifestations and neurological deficits. We report a case of biotinidase deficiency with seizures, developmental delay, acrodermatitis enthropathica manifestations and mild compensated acidosis

Acrodermatitis Enteropathica-like Eruption Associated with Combined Nutritional Deficiency

We present here a case of acrodermatitis enteropathica-like eruption associated with essential free fatty acid and protein deficiencies as well as borderline zinc deficiency that occurred after Whipple's operation in a 31-yr-old woman. Her eruptions were improved not by zinc supplements alone, but her condition was improved by total parenteral nutrition including amino acids, albumin, lipid and zinc. Although we could not exactly decide which of the nutrients contributed the most to her manifestations, we inferred that all three elements in concert caused her dermatoses. This case shows that even though the patient's skin manifestations and laboratory results are suggestive of acrodermatitis enteropathica, the physicians should keep in mind the possibility that this disease can be associated with other nutritional deficiencies such as free fatty acid or protein deficiency.