Uleritema ofriógenes como entidad asociada al síndrome 18p- en un paciente pediátrico / Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient

El uleritema ofriógenes es un trastorno cutáneo benigno y poco frecuente que se presenta habitualmente en la infancia. Se caracteriza por pápulas foliculares eritematosas y queratósicas en el lateral de las cejas, que con el tiempo suelen evolucionar a alopecia cicatricial. Dicha entidad puede aparecer como manifestación clínica aislada o asociada a varios síndromes congénitos (18p-, Cornelia de Lange, Noonan y Rubinstein- Taybi, entre otros). Presentamos el caso de un paciente de 13 años con síndrome 18p- que consultó por lesiones puntiformes rugosas al tacto y pérdida de pelo en ambas cejas (uleritema ofriógenes), así como por hiperqueratosis pilar en brazos. Esta tríada, conocida como síndrome de Zouboulis, ha sido poco descrita en la literatura. Se considera que el reconocimiento del uleritema ofriógenes es de crucial importancia ya que, ante su presencia, debería realizarse una anamnesis y una exploración física exhaustivas en búsqueda de otras alteraciones que pudieran orientar a la existencia de un trastorno genético subyacente.

Ulerythema ophryogenes is a benign and rare skin disorder commonly presenting in childhood. It is characterized by erythematous and keratotic follicular papules located on the side of the eyebrows, and which over time tends to evolve into scarred alopecia. This entity may appear as an isolated clinical manifestation or associated with several congenital syndromes (18p-, Cornelia de Lange, Noonan, Rubinstein-Taybi, among others). We present a 13-year-old male with 18p- syndrome who consults for rough lesions and hair loss in both eyebrows (ulerythema ophryogenes), as well as for hyperkeatosis pilaris in both arms. This triad, known as Zouboulis syndrome, has been rarely reported in the literature. We consider that the recognition of ulerythema ophryogenes is of crucial importance since, in view of its presence, comprehensive anamnesis and physical examination should be performed in search of other alterations that could guide the existence of an underlying genetic disord

Erupción variceliforme de Kaposi y enfermedad de Darier / Kaposi's varicelliform rash and Darier's disease

La erupción variceliforme de Kaposi es una infección cutánea diseminada, causada en la mayor parte de los casos por el virus Herpes simple tipo 1. Se suele presentar en pacientes con alteraciones preexistentes de la barrera cutánea, especialmente en niños con dermatitis atópica. Se comunica el caso de un paciente de 84 años, quien negaba enfermedades cutáneas previas, que consultó por lesiones dolorosas y pruriginosas, en la piel del tórax y el abdomen, de 3 semanas de evolución. Con sospecha de una enfermedad infecciosa viral, bacteriana, ampollar o neutrofílica, se realizó inmunofluorescencia directa para herpes, cultivo y biopsia de piel para estudio histológico. La inmunofluorescencia fue positiva para Herpes simple tipo 1 y el estudio histopatológico mostró cambios compatibles con infección herpética y enfermedad de Darier. La enfermedad de Darier es una genodermatosis infrecuente que se suele manifestar en la adolescencia. Si bien su diagnóstico en la ancianidad es excepcional, este caso ilustra que se debe considerar en todos los pacientes que presenten erupción variceliforme. (AU)

Kaposi's varicelliform rash is a disseminated cutaneous infection, caused by Herpes virus 1. It usually presents in patients with pre-existing skin barrier disorders, especially in children with atopic dermatitis. We report the case of an 84-year-old patient, who reported having no previous skin diseases, who consulted for painful, itchy, 3-week-old skin lesions. As we suspected viral, bacterial, bullous or neutrophilic disease, direct immunofluorescence, culture, and skin biopsy for histological study were performed. Immunofluorescence was positive for Herpes simplex type 1 and the histopathological study showed changes compatible with herpetic infection and Darier's disease. Darier's disease is a rare genodermatosis that usually manifests in adolescence. Although its diagnosis in old age is anecdotal, it should be considered in patients with a varicelliform rash. (AU)

Queratosis folicular invertida del conducto auditivo externo: Una patología benigna poco frecuente y de localización inusual / INVERTED FOLLICULAR KERATOSIS OF THE EXTERNAL AUDITORY CANAL

La queratosis folicular invertida es una neoplasia benigna poco frecuente originada en el epitelio folicular a nivel del infundíbulo. Si bien no posee una clínica característica ni patognomónica, suele presentarse como una lesión solitaria, asintomática, de crecimiento lento, en la cara. El diagnóstico de certeza se realiza con el estudio histopatológico, que evidencia una proliferación de células basaloides y de células escamosas queratósicas con remolinos escamosos, que se extienden a la dermis. El tratamiento de elección es la extirpación quirúrgica, con buen pronóstico y escasa tendencia a la recurrencia. La localización en conducto auditivo externo es extremadamente infrecuente (en la literatura revisada hemos encontrado sólo tres casos comunicados) y representa un desafío tanto diagnóstico como terapéutico. Se presenta un paciente con una queratosis folicular invertida localizada en conducto auditivo externo izquierdo de 5 años de evolución que comprometía significativamente su calidad de vida por la sintomatología (dolor, otorrea, hipoacusia) y que evolucionó satisfactoriamente con el tratamiento instaurado (extirpación quirúrgica y posterior topicación de la zona con ácido tricloroacético 50%)

Inverted follicular keratosis is a rare benign neoplasm originating from the infundibulum of the follicular epithelium. Although it does not have a characteristic or pathognomonic clinic, it usually presents as a solitary, asymptomatic, slow-growing lesion on the face. The certain diagnosis is made with the histopathological study, which shows a proliferation of basaloid cells and squamous keratotic cells with squamous eddies, which extend to the dermis. The treatment of choice is surgical removal, with a good prognosis and little tendency to recur. Localization in the external auditory canal is extremely rare (in the reviewed literature we have found only three reported cases) and represents both a diagnostic and therapeutic challenge. We present a patient with an inverted follicular keratosis located in the left external auditory canal of 5 years of evolution that significantly compromised his quality of life due to the symptoms (pain, otorrhea, hearing loss) and that evolved satisfactorily with the established treatment (surgical excision and subsequent topication of the area with 50% trichloroacetic acid).

Dermoscopic pattern of Kyrles disease

Abstract The clinical diagnosis of Kyrle's disease may sometimes be challenging, due to the clinical similarity of lesions to other pruritic dermatosis. Although the dermoscopy is being increasingly used in daily practice, there is insufficient data in literature describing the dermoscopic patterns of Kyrle's disease, since only one report has been published to date. Herein we report our dermoscopic observation with additional diagnostic tips in a case who was diagnosed with Kyrle's disease histopathologically.

Enfermedades acantolíticas: caracterización de pacientes con diagnóstico de enfermedad de Hailey-Hailey, enfermedad de Darier y enfermedad de Grover, entre los años 2007 y 2017 en el Hospital Clínico San Borja Arriaran y revisión de la literatura / Characterization of patients diagnosed with Hailey-Hailey disease: Darier's disease and Grover's disease, between 2007 and 2017 at the San Borja Arriaran Clinical Hospital and review of the literature

INTRODUCCIÓN: Las enfermedades acatólicas son un grupo heterogéneo de enfermedades que presentan como característica central histopatológica la acantosis. Generalmente presentan un curso de evolución crónica y recidivante, con variadas manifestaciones clínicas. OBJETIVO: caracterizar los pacientes con diagnóstico de enfermedad acantolítica, bajo 5 criterios clínicos y realizar una revisión de la literatura. MÉTODOS: Se realizó una revisión de la base de datos del Servicio Anatomía Patológica del Hospital San Borja Arriaran (HSBA) entre los años 2007 y 2017 y se complementaron con los antecedentes clínicos extraídos de las fichas clínicas.RESULTADOS: Se obtuvo un total de 13 casos. el 53,8% correspondieron a enfermedad de Darier, 20,6% a enfermedad de Hailey-Hailey y un 20,6% a enfermedad de Grover, obteniendo un promedio de edad al momento del diagnóstico de 22,5 años, 44,3 años y 47,6 años respectivamente. Los antecedentes familiares estuvieron presentes en el 53,8% del total de pacientes, ninguno de ellos presentaba estudio genético. El 61,5% de la muestra correspondió a pacientes de sexo femenino y el promedio de años de evolución previo al diagnóstico fue de 7,4 años para Darier, 8,6 para Hailey-Hailey y para Grover. El 100% de los pacientes con enfermedad de Darier y Grover estaban con terapia sistémica y el 66,6% de enfermedad de Hailey-Hailey con terapia tópica, todos con adecuada respuesta clínica. DISCUSIÓN y conclusiones: las enfermedades acantolíticas corresponden a genodermatosis poco frecuente cuyo diagnóstico y tratamiento constitu-yen un desafío para el dermatólogo

INTRODUCTION: Atytolic diseases are a heterogeneous group of diseases that present acanthosis as a histopathological central characteristic. They usually present a course of chronic and recurrent evolution, with varied clinical manifestations. OBJECTIVE: to characterize the patients diagnosed with acantholytic disease, with 5 clinical criteria and to carry out a review of the literature. METHODS: A review of the database of the Pathological Anatomy Service of the San Bor-ja Arriaran Hospital (HSBA) between 2007 and 2017 was carried out and complemented with the clinical records extracted from the clinical files. RESULTS: A total of 13 cases were obtained. 53.8% corresponded to Darier's disease, 20.6% to Hailey-Hailey's disease and 20.6% to Grover's disease, obtaining an average age at diagnosis of 22.5 years, 44.3 years and 47.6 years respectively. Family history was present in 53.8% of the to-tal patients, none of them had a genetic study. 61.5% of the sample corresponded to female patients and the average of years of evolution prior to diagnosis was 7.4 years for Darier, 8.6 for Hailey-Hailey and for Grover. 100% of the pa-tients with Darier and Grover's disease were on systemic therapy and 66.6% of Hailey-Hailey's disease with topical therapy, all with adequate clinical response. DISCUSSION AND CONCLUSIONS: acantholytic diseases correspond to rare genodermatosis whose diagnosis and treatment constitute a challenge for the dermatologist.

Case for diagnosis. Linear Darier's disease

Abstract: We present a different and rare manifestation of Darier's disease, namely linear Darier's disease. Only a few cases have been described in the literature. The case report is a male patient, 60 years old, presenting brown to red papules and plaques with hyperkeratosis distributed on the abdomen, following Blaschko's lines, with 6 years' evolution. It was a difficult diagnosis until the dermatological workup and biopsy.

Enfermedad de Darier. Presentación en dos hermanos / Darier's disease. Report in two brothers

La enfermedad de Darier (ED) o disqueratosis folicular fue descripta por Darier y White en 1889. Se trata de una alteración de herencia autosómica dominante, causada por la mutación del gen ATP2A2. Esta mutación interfiere en los procesos de diferenciación y crecimiento celular calcio dependientes. El diagnóstico es clínico e histopatológico. Se manifiesta con pápulas y costras eritematoparduzcas queratósicas, pruriginosas, localizadas principalmente en áreas seborreicas, pápulas blanquecinas en mucosa oral y alteraciones ungueales. Presentamos dos casos de ED en dos hermanos y realizamos una revisión de esta entidad (AU)

Darier's disease (DD) or keratosis follicularis was described by Darier and White in 1889. It is an autosomic dominant inheritance disorder caused by mutation of ATP2A2 gene. This mutation interferes in the processes of cell differentiation and calcium dependent growth. Diagnosis is clinical and histopathological. Clinical features include itchy keratotic papules and crusts, located mainly on seborrheic areas, whitish papules on oral mucosa and nail changes. Two cases of DD in two brothers is reported and a review of this entity is made (AU)

Acrokeratosis verruciformis of Hopf - Case report

Abstract: A 54 year-old woman with a 3-year history of rheumatoid arthritis (RA) consulted us because of weight loss, fever and skin eruption. On physical examination, erythematous plaques with a pseudo-vesicular appearance were seen on the back of both shoulders. Histological examination was consistent with rheumatoid neutrophilic dermatosis (RND). After three days of prednisone treatment, the skin eruption resolved. RND is a rare cutaneous manifestation of seropositive RA, characterized by asymptomatic, symmetrical erythematous plaques with a pseudo-vesicular appearance. Histology characteristically reveals a dense, neutrophilic infiltrate with leucocitoclasis but without other signs of vasculitis. Lesions may resolve spontaneously or with RA treatment. This case illustrates an uncommon skin manifestation of active rheumatoid arthritis.

Síndrome Graham-Little-Piccardi-Lasseur: a propósito de un caso y revisión de la literatura / Graham-Little-Piccardi-Lasseur syndrome: about a case and review of the literature

El Síndrome Graham-Little-Piccardi-Lasseur (GLPLS) corresponde a una variante clínica del llamado Liquen plano pilar y se caracteriza por presentar alopecia cicatrizal progresiva de cuero cabelludo con las características del Liquen plano pilar, alopecia no cicatrizal que compromete axilas y pubis, y erupción folicular liquenoide en tronco, extremidades, cara y/o cejas. Presentamos el caso de una paciente de 19 años que ha sido diagnosticada con GLPLS y cuyo curso ha sido de difícil manejo.

The Graham-Little-Piccardi-Lasseur Syndrome (GLPLS) corresponds to a clinical variant of Lichen planopilaris and is characterized by progressive scarring scalp alopecia with features of flat lichen, non-scarring alopecia localized in the armpits and pubis, and lichenoid follicular eruption in trunk, extremities, face and / or eyebrows. We present the case of a 19-year-old female patient who has been diagnosed with GLPLS and whose course has been difficult to manage.

Severe Darier's disease in a psychiatric patient

Darier’s disease is characterized by dense keratotic lesions in the seborrheic areas of the body such as scalp, forehead, nasolabial folds, trunk and inguinal region. It is a rare genodermatosis, an autosomal dominant inherited disease that may be associated with neuropsichiatric disorders. It is caused by ATPA2 gene mutation, presenting cutaneous and dermatologic expressions. Psychiatric symptoms are depression, suicidal attempts, and bipolar affective disorder. We report a case of Darier’s disease in a 48-year-old female patient presenting severe cutaneous and psychiatric manifestations.

Segmental Darier's disease: a presentation of difficult diagnosis

Darier's disease is a rare autosomal dominant genodermatosis. It has an estimated prevalence of 1 in 55,000 to 100,000 individuals, regardless of gender. It is characterized by multiple keratotic papules on the seborrheic areas of the trunk, scalp, forehead and flexures, and the clinical picture is worsened by heat, sun exposure, perspiration and mechanical trauma. Histopathology observed loss of epithelial adhesion and abnormal keratinization. About 10% of cases present in the localized form of the disease. We report a case of segmental Darier's Disease Type I and discuss the main characteristics of this condition.

Enfermedad de Darier: comunicación de 4 casos / Darier’s disease: a report of four cases

La enfermedad de Darier (o disqueratosis folicular) es una genodermatosis de herencia autosómica dominante poco frecuente,en la que existe una mutación del gen que codifica la enzima calcio ATPasa del retículo endoplásmico, que se expresa en piel y cerebro. Se caracteriza por la pérdida de adhesión entre los queratinocitos epidérmicos suprabasales y una queratinización anormal en piel, uñas y mucosas. Clínicamente se manifiesta con pápulas eritemato parduzcas queratósicas localizadas en áreas seborreicas, pápulas y hoyuelos palmo plantares, pápulas blanquecinas en mucosa oral y alteraciones ungueales. A nivel histopatológico, se observa disqueratosis acantolítica, hendiduras suprabasales, cuerpos redondos y granos. Pueden asociarse a esta entidad trastornos auditivos y neuropsiquiátricos, principalmente en pacientes con antecedentes familiares de enfermedad de Darier. Presentamos 4 pacientes, 2 masculinos y 2 femeninos, de entre 30 y 61 años de edad, que presentaron hallazgos clínicos e histopatológicos de enfermedad de Darier, desde la segunda década de la vida. Sólo uno refirió antecedentes familiares de esta entidad. Una paciente presentó un síndrome depresivo durante su seguimiento. Tres de ellos realizaron tratamientos con retinoides tópicos y sólo uno con retinoides sistémicos con mejoría parcial en todos los casos.

Darier Disease or keratosis follicularis is an uncommon genodermatosis inherited in an autosomal dominant pattern, characterized by mutations in the gene ATP2A2 which encodes the reticulum endoplasmic enzyme calcium ATPase expressed in skin and brain. Clinical features of this disorder are: keratotic papules located in seborrheic areas, palmoplantar papules and pits, white papules on oral mucosa and nail abnormalities. There may be an association with hearing and neuropsychiatric disorders, especially in patients with a family history of Darier disease. This disorder is histologically characterized by loss of adhesion between the suprabasal epidermal keratinocytes (suprabasal clefts), aberrant epidermal keratinization (focal acantholitic dyskeratosis), round bodies and grains. We present 4 patients, 2 male and 2 female, aged between 30 and 61 years old, who had clinical and histopathologic findings of Darier’s disease, since the second decade of their lives. Just one of them referred family history of this condition. One patient presented a depressive syndrome during his follow-up. Three of them were treated with topical retinoids and the other one with systemic retinoids with partial improvement in all of them.

Sarcoidosis subcutánea: reporte de un caso / Subcutaneous sarcoidosis: report of a case

La sarcoidosis subcútanea es un tipo infrecuente de manifestación cutánea específica de la sarcoidosis. Se presenta el caso de una mujer de 44 años que presenta lesiones nodulares, no dolorosas y del color de la piel normal en extremidades. Las biopsias mostraron granulomas sarcoideos no caseificantes en el tejido celular subcutáneo sin componente epidérmico. Se realizaron diversos exámenes de laboratorio y de imágenes, no se encontró afectación en otros sistemas. Como en este caso, la sarcoidosis subcutánea puede ser la primera o única manifestación de la enfermedad o puede preceder en varios años a la afectación sistémica lo que demuestra la importancia de un seguimiento periódico en estos pacientes.

Subcutaneous sarcoidosis is an uncommon type specific cutaneous manifestation of sarcoidosis. We present a case about 44 years old woman with painless and flesh color, nodular lesions on extremities. Skin biopsies showed noncaseating granulomasin subcutaneous tissue and normal epidermis and dermis. Investigación included laboratorial exams and scans that ruled systemic involvement out. As this case, subcutaneous sarcoidosiscould be the first manifestation of the entity or could present before of systemic commitment, this shows the importance of periodic following up in these patients.

Keratosis pilaris and prevalence of acne vulgaris: a cross-sectional study

BACKGROUND: Acne vulgaris has an important genetic predisposition, as well as keratosis pilaris. Clinical observations suggest that patients with keratosis pilaris have less frequent or less severe acne breakouts; however, we found no studies on this regard OBJECTIVE: To determine if the presence of keratosis pilaris is associated with lower prevalence and severity of acne. METHODS: A cross-sectional study was conducted with dermatology outpatients aged between 14 and 35 years. We evaluated history and clinical grade of acne, demographic variables, history of atopy, smoking, and use of hormonal contraceptives. Two groups were defined by the presence or absence of moderate to severe keratosis pilaris on the arms and were compared by bivariate analysis and by conditional multiple logistic regression. RESULTS: We included 158 patients (66% women), with a median age of 23±11 years. Twenty-six percent of them had keratosis pilaris, which was associated with a history of atopy (odds ratio [OR]=2.80 [1.36 to 5.75]; p<0.01). Acne was present in 66% of subjects, and was related to family history of acne (OR=5.75 [2.47 to 13.37]; p<0.01). In bivariate and multivariate analysis, the group with keratosis pilaris had a less frequent history of acne (OR=0.32 [0.14 to 0.70]; p<0.01). CONCLUSION: The presence of moderate to severe keratosis pilaris on the arms was associated with lower prevalence of acne vulgaris and lower severity of facial lesions in adolescents and young adults. .

Enfermedad de Darier segmentaria tipo 2 / Segmental Darier’s disease type 2

La enfermedad de Darier-White (EDW) es una genodermatosis que causa una alteración en los niveles de calcio intracelulares, provocando acantólisis y apoptosis de los queratinocitos. La variante segmentaria tipo 2, infrecuente, tiene como máxima expresión de severidad la afectación de una metámera...

Do you know this syndrome? / Voce conhece esta sindrome?

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.

Síndrome de Noonan é uma das mais frequentes síndromes genéticas e importante diagnóstico diferencial em crianças com fácies sindrômica similar ao fenótipo da síndrome de Turner. É caracterizada por dismorfismo facial, defeitos cardíacos congênitos, baixa estatura e uma ampla variação fenotípica. Esse artigo apresenta um caso de uma paciente de 10 anos de idade com síndrome de Noonan que apresentava fácies tiípica além de defeitos cardíacos (dilatação de artéria pulmonar e insufiência mitral), má oclusão dentária, micrognatismo, baixa estatura e dificuldade de aprendizado.

Enfermedad de Darier y acroqueratosis verruciforme de Hopf / Darier disease and acrokeratosis verruciformis of Hopf

La enfermedad de Darier y la acroqueratosis verruciforme de Hopf son disqueratosis cutáneas asociadas, debido a una mutacióndel gen ATP2A2. Se presenta un paciente con ambas patologías y sus opciones de tratamiento.

Enfermedad de Darier-White tratada con isotretinoína oral / Darier-White disease treated with oral isotretinoin

La enfermedad de Darier-White (EDW) es un trastorno autosómico dominante; descrita por Darier y White en 1889, se caracteriza por alteraciones de la queratinización de la epidermis, uñas y mucosas. Presentamos el caso de un paciente masculino de 16 años con lesiones cutáneas e histológicas características de la EDW, que realizó tratamiento con isotretinoína oral a una dosis de 0,7 mg/kg/día por seis meses, con respuesta favorable. Se plantea una alternativa terapéutica con retinoides orales para las lesiones fjas, resistentes, crónicas y pruriginosas.

Darier-White Disease (DWD) is an autosomal dominant disorder, described by Darier and White in 1889, characterized by abnormal keratinization in the epidermis, nails and mucosae. We present the case of a 16-year-old, male patient, with clinically and histologically confrmed DWD treated with oral isotretinoin (0.7 mg/kg/day) for six months, with good response. We recommend an optional therapeutic treatment for chronic, itchy, recalcitrant lesions with oral retinoids.