Urticaria pigmentosa in a 9‐month‐old male: case report

@#Urticaria pigmentosa (UP) is the most common form of cutaneous mastocytosis in children. It can be diagnosed clinically, based on the appearance of numerous brownish macules and papules that are symmetrically distributed, mostly on the trunk and the extremities. Skin biopsy is helpful in establishing the diagnosis. Treatment options generally include antihistamines and/or topical corticosteroids. In most cases, pediatric UP tends to disappear spontaneously before puberty. We present the case of a 9-month-old male with a history of multiple brownish patches and plaques, which started when he was four months old. He was diagnosed with UP based on clinical and histopathologic findings, and was prescribed oral antihistamines and emollients for symptomatic treatment.

Darier disease: the use of dermoscopy in monitoring acitretin treatment

Abstract Darier disease is an uncommon autosomal dominant inherited disease, caused by a mutation in the ATP2A2 gene. The clinical findings are hyperkeratotic papules on the trunk, scalp, face, and neck, maceration of intertriginous areas, palmar pits, whitish papules on the oral mucosa and nail abnormalities. The main histopathologic findings are acantholysis and dyskeratotic keratinocytes. Dermatoscopic features are comedo-like openings with a central polygonal yellowish/brownish structure, surrounded by a whitish halo. First-line treatment includes acitretin. Five reports have been published describing Darier disease dermatoscopic findings. Herein, we report for the first time a patient under acitretin treatment and dermatoscopic follow-up.

Subcutaneous Sarcoidosis (Darier Roussy Sarcoid): A Rare Entity of Cutaneous Sarcoidosis

Summary@#Sarcoidosis is a multisystem disease characterised by granulomatous inflammation possibly due to hyperactivation of the immune system; with unknown etiology. Subcutaneous sarcoidosis (also known as Darier Roussy sarcoid) is a rare type of specific cutaneous lesion of sarcoidosis characterised by multiple firm, asymptomatic to mildly tender, mobile, round to oval, and skin coloured nodules. Herein we report a rare case of subcutaneous sarcoidosis.

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)

caso clínico: enfermedad de darier y sifilis, la gran simuladora

Se presenta un caso clínico con el objetivo de dar a conocer una genodermatosis de baja frecuencia, enfermedad de Darier, que se presentó concomitantemente a una síflis tardía, que al ser tratada con penicilina, provocó una reacción adversa a la misma.

Darier's Disease Of Moderate Severity With Mucosaland Nail Involvement

Darier's disease, also known as keratosis follicularis, dyskeratosis follicularis or Darier-White disease, is a rare, inherited, acantholytic disorder caused by mutation in ATP2A2 gene, which manifests with hyperkeratotic lesions of variable severity. It typically occurs in young age and presents with itching and greasy appearance. The lesions are persistent and disease follows a chronic course with protean prognosis. Extracutaneous involvement may occur in mucosa, nail, eye and salivary gland.We report a case of Darier's disease of teenage onset, and moderate severity with palmoplantar, mucosal and nail involvement.

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.

pt / Presentación clínica de la enfermedad de darier lineal. relato de caso / Clinical presentation of linear darier's disease. a case report

RESUMEN: La enfermedad de Darier es una genodermosis autosómica dominante, caracterizada por acantolisis y queratinización anormal, con hallazgos muco-cutáneos característicos, como pápulas queratóticas en el tronco superior y eritroniquismo longitudinal y que posee una forma localizada, rara, correspondiente a un mosaico genético. Esta forma de presentación envuelve la superficie de la piel de forma lineal, zosteriforme, irregular o con otro formato localizado, siendo el tronco y los miembros los lugares más afectados. En este caso de la enfermedad de Darier, su presentación fue unilateral, siguiendo las líneas de Blaschko, con superficie hipertrófica, configurando la enfermedad de Darier lineal. El paciente presentaba múltiples placas hipocrómicas a lo largo del miembro inferior derecho, de la raíz del muslo hasta la matriz ungueal del primer dedo. En la región inguinal derecha, hubo confluencia de las pápulas, formando una placa condilomatosa, grisácea y pruriginosa. Optamos por realizar un examen histopatológico de una pápula de la pierna y de la placa inguinal.

SUMMARY: Darier's disease is an autosomal dominant genodermatosis, characterized by acatholysis and abnormal keratinization, with characteristic mucocutaneous findings, such as keratotic papules in the upper trunk and longitudinal erythronychia. There is a localized rare presentation that corresponds to a genetic mosaicism, which involves the surfaceof the skin in a linear, zosteriform, irregular or other localized arrangement, being the trunk and limbs the most affected areas. We report amosaicism of Darier's disease, whose presentation was in a linear, unilateral pattern, following the lines of Blaschko, with localized hypertrophic formation, configuring the Linear Darier's disease. The patient presented with multiple hypochromic planes along the right lower limb, from the thigh root to the nail matrix of the first toe. In the right inguinal region, there was confluence of the papules, forming a condylomatous, grayish and pruritic plaque. We chose to perform histopathological examination from a papule on the leg and the inguinal plate. The therapy was directed to improve the patient's quality of life.

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 white: Reporte de caso y relación con enfermedades neuropsiquiátricas / Darier white disease: Case report and relationship with neuropsychiatric diseases

La enfermedad de Darier White es una enfermedad autosómica dominante, de penetrancia completa con expresividad variable que afecta al cromosoma 12q23-24.1. Se caracteriza por manifestaciones dermatológicas como: placas o pápulas no foliculares en zonas seborreicas, que tienen un olor característico. La presente investigación busca presentar reportes de casos de dos pacientes, en un Hospital Universitario en Bogotá-Colombia y la relación que existe con enfermedades psiquiátricas, tales como: trastorno afectivo bipolar y retraso mental. Se realizó una historia clínica y examen físico completo. Posteriormente, se firmó un consentimiento informado para toma de fotos y uso de las mismas, con fines educativos. Con estos elementos, se buscó información en las bases de datos más requeridas hoy en día, como: Pubmed, Science Direct, Embase y Scielo utilizando búsquedas con palabras claves, relacionando enfermedad de Darier White y enfermedades psiquiátricas en general. Consecutivamente, se buscó información de trastorno afectivo bipolar y retraso mental. En definitiva se enfocó cada uno de los casos descritos, como enfermedad de Darier con la asociación clínica de enfermedades psiquiátricas, en relación con el trastorno afectivo bipolar y retraso mental, con los que esta enfermedad muestra una relación estrecha.

Darier White or dyskeratosis follicularis disease is a genetic disorder of autosomal dominant trait, affecting chromosome 12q23-24.1. It starts at first or second decade of life, it is characterized by cutaneous manifestations due to several hyperkeratotic papules that affect seborrheic areas such as head, neck and thorax. This article seeks to present reports of cases of two patients in a Hospital in Bogotá-Colombia and their relationship with psychiatric illnesses such as bipolar affective disorder and mental retardation. A complete clinical history was made, the patients were examined, and informed consent was signed for taking pictures and using them for educational purposes. With this information, we proceeded to look for bibliography in the most recognized databases such as: Pubmed, Science Direct, Embase using advanced searches with key words, related words like Darier White disease and its relationship with psychiatric illnesses in general. Finally, each of the cases described as Darier's disease was approached with the clinical association of psychiatric illnesses such as bipolar affective disorder and mental retardation, with which this disease shows a close relationship in relation to the percentages of presentation.

Darier's Disease Responding to Minocycline / 대한피부과학회지

No abstract available.

Mutation analysis of the ATP2A2 gene in a Kazakh family with Darier's disease / 中华皮肤科杂志

Objective To analyze mutations in the ATP2A2 gene in a Kazakh family with Darier's disease.Methods Clinical data were collected from 49 members from a family with Darier's disease,and peripheral blood samples were obtained from 44 family members and 100 unrelated healthy people.Genomic DNA was extracted from these blood samples.PCR and DNA sequencing were performed to detect mutations in the ATP2A2 gene.Results Darier's disease was inherited in an autosomal dominant manner in this family.A G→A heterozygous mutation (1288-1G→A) was identified at position 1288-1 at the splice site in exon 12 of the ATP2A2 gene in 11 patients in this family,but not in 33 healthy members or 100 healthy controls.Conclusion Darier's disease in this family may be caused by the heterozygous mutation (1288-1G→A)at the splice site in exon 12 of the ATP2A2 gene.

A Case of Darier Disease with Typical Histopathology in the Nails / 대한피부과학회지

No abstract available.

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)

A Sporadic Case of Verrucoid Cornifying Darier's Disease / 대한피부과학회지

No abstract available.

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.

Mastocitoma cutáneo solitario: A propósito de un caso / Solitary cutaneous mastocytosis: A case report

Se presenta una niña de 16 meses de edad, con una lesión de catorce meses de evolución que consistía en una única placa eritematosa, en forma de L, bien delimitada, localizada en la parte superior de la espalda. El signo de Darier fue positivo. La histopatología mostró edema intersticial y en la tinción con Giemsa, se observaron mastocitos. Se realizó el diagnóstico de un mastocitoma solitario. El mastocitoma solitario es una lesión tumoral benigna, que representa aproximadamente el 15% de la mastocitosis cutánea.

We report a 16 month years old female, with a 14 months history of a single erythematous, L shaped well-delimited plaque located on her upper back. Darier sign was positive. Histopathology revealed interstitial edema. The Giemsa staining showed mast cells. The diagnosis of a solitary mastocytoma was performed. Solitary mastocytoma is a benign tumoral lesion, that represents approximately 15% of cutaneous mastocytosis.

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.

A Case of Localized Darier's Disease / 대한피부과학회지

Localized Darier's disease (DD) is a rare variant of DD. The disease is characterized by multiple hyperkeratotic papules in a unilateral, linear, zosteriform or Blaschkoid distribution with the histological features of classical DD. Unlike DD, which presents as a generalized condition, localized DD lacks family history and other clinical findings suggestive of DD such as distinctive nail abnormalities and keratotic papules on the palms and soles. Herein, we describe a case of localized DD in a 31-year old Korean man on the perianal area that was treated with topical retinoid cream.