ABSTRACT
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
Subject(s)
Humans , Male , Adolescent , Chromosome Disorders , Darier Disease , Abnormalities, Multiple , Chromosomes, Human, Pair 18 , Chromosome Deletion , Eyebrows/abnormalitiesABSTRACT
Objective To investigate the clinicopathological characteristics of established genital and extragenital lichen sclerosus(LS)and compare the differences between them. Method The clinicopathological data of 55 patients with established genital and extragenital LS diagnosed by pathological examination in the Department of Dermatology of Beijing Hospital were retrospectively analyzed. Results The 55 patients included 11 males and 44 females.Among them,38,15,and 2 patients had genital lesions,extragenital lesions,and both genital and extragenital lesions,respectively.Extragenital LS mainly involved the back(14.55%)and extremities(7.27%).Among the patients,28.30% were asymptomatic,and 73.58% and 24.53% felt itchy and painful,respectively.The asymptomatic patients had a higher proportion in extragenital cases(
Subject(s)
Female , Humans , Male , Darier Disease , Extremities , Genitalia , Lichen Sclerosus et Atrophicus/epidemiology , Retrospective StudiesABSTRACT
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)
Subject(s)
Humans , Male , Aged, 80 and over , Kaposi Varicelliform Eruption/diagnosis , Darier Disease/diagnosis , Acyclovir/administration & dosage , Foscarnet/therapeutic use , Herpesvirus 1, Human/pathogenicity , Fluorescent Antibody Technique, Direct , Herpes Simplex/complications , Kaposi Varicelliform Eruption/etiology , Kaposi Varicelliform Eruption/pathology , Kaposi Varicelliform Eruption/drug therapy , Darier Disease/etiologyABSTRACT
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).
Subject(s)
Humans , Male , Adult , Trichloroacetic Acid/therapeutic use , Diagnosis, Differential , Ear Canal/pathology , Darier Disease/surgery , Darier Disease/therapyABSTRACT
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.
Subject(s)
Humans , Female , Dermoscopy/methods , Darier Disease/pathology , Darier Disease/diagnostic imaging , Biopsy , Keratinocytes/pathology , Reproducibility of Results , Middle AgedABSTRACT
OBJECTIVE@#To explore the molecular basis for a pedigree affected with Darier-White disease.@*METHODS@#Genomic DNA was isolated from 3 patients and 1 unaffected member from the pedigree, as well as 80 healthy controls. Targeted sequence capture and next-generation sequencing were used to screen mutations of skin disease-related genes. Candidate mutations were verified by Sanger sequencing, and co-segregation analysis was carried out to confirm the pathogenicity of mutation. Conservation analysis and protein structure and function were also predicted with Bioinformatic tools.@*RESULTS@#A heterozygous mutation c.2246G>T (p.G749V) was identified in exon 15 of ATP2A2 gene in all 3 patients from the pedigree, but not in the unaffected member or 80 healthy controls. The corresponding amino acid was highly conserved, and mutation of which can lead to structural and functional changes of the protein.@*CONCLUSION@#The c.2246G>T missense mutation of the ATP2A2 gene probably underlies the Darier-White disease in this pedigree by causing damages to the structure and function of sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2).
Subject(s)
Humans , Darier Disease , Genetics , Heterozygote , Mutation, Missense , Pedigree , Sarcoplasmic Reticulum Calcium-Transporting ATPases , GeneticsABSTRACT
BACKGROUND: Kaposi varicelliform eruption (KVE) is a disseminated viral infection primarily caused by the herpes simplex virus in the setting of an underlying chronic skin disease. Few studies have reported the clinical characteristics and predisposing factors for recurrent KVE.OBJECTIVES: To characterize the clinical features and predisposing factors for recurrent KVE.METHODS: This retrospective comparative study of recurrent vs. single-episode KVE was performed at the Pusan National University Hospital between 2004 and 2017.RESULTS: A total of 84 episodes occurred in 60 patients, and of these, 13 patients developed recurrence (21.7%). No statistically significant intergroup difference was observed in the mean age and sex distribution. The face was the most common site of involvement in both groups, followed by the trunk and the upper and lower extremities. Atopic dermatitis was the most common pre-existing disease in both groups; however, Darier's disease was more common in the recurrent KVE group, and this difference was statistically significant. Most patients with KVE (66.7%) showed aggravation of the underlying skin disease within 3 months of KVE onset. This finding was more prominent in patients with recurrent episodes (91.7%) than in those with single-episode KVE (58.3%), (p=0.040).CONCLUSION: This study can contribute to a better understanding of recurrent KVE and guide clinicians in treating patients with conditions predisposing to KVE.
Subject(s)
Humans , Causality , Darier Disease , Dermatitis, Atopic , Kaposi Varicelliform Eruption , Lower Extremity , Preexisting Condition Coverage , Recurrence , Retrospective Studies , Sex Distribution , Simplexvirus , Skin DiseasesABSTRACT
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.
Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Aged , Acantholysis/epidemiology , Pemphigus, Benign Familial/epidemiology , Ichthyosis/epidemiology , Darier Disease/epidemiology , Chile , Retrospective Studies , Acantholysis/diagnosis , Pemphigus, Benign Familial/diagnosis , Ichthyosis/diagnosis , Darier Disease/diagnosisABSTRACT
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.
Subject(s)
Humans , Male , Middle Aged , Darier Disease/diagnosis , Photography , Acitretin/administration & dosage , Keratolytic Agents/administration & dosage , Darier Disease/pathology , Darier Disease/drug therapy , Medical IllustrationABSTRACT
Papular acantholytic dyskeratosis is a collection of papular skin lesions that occur in the intertriginous and genital area. They show a characteristic histology of focal suprabasal acantholysis that distinguishes it from Hailey-Hailey disease or Darier disease. We describe a 50-year-old man with an asymptomatic papular eruption on the perianal area for several years. Histologically, a biopsy specimen showed diffuse hyperkeratosis and irregular acantholysis throughout the epidermis. We used carbon dioxide laser therapy as a therapeutic option. Despite causing a long and painful healing process, a considerable reduction of the symptoms was achieved. Although we do not know the precise nature or the incidence of this disease, papular acantholytic dyskeratosis should be included in the differential diagnosis of verrucous papules in perineal or perianal areas and carbon dioxide laser may represent a good therapeutic option.
Subject(s)
Humans , Middle Aged , Acantholysis , Biopsy , Carbon Dioxide , Carbon , Darier Disease , Diagnosis, Differential , Epidermis , Incidence , Lasers, Gas , Pemphigus, Benign Familial , SkinABSTRACT
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)
Subject(s)
Humans , Male , Female , Middle Aged , Acitretin/therapeutic use , Keratolytic Agents/therapeutic use , Darier Disease/pathology , Darier Disease/drug therapyABSTRACT
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.
Subject(s)
Humans , Male , Middle Aged , Papilloma/pathology , Darier Disease/pathology , Acitretin/therapeutic use , Keratolytic Agents/therapeutic use , Darier Disease/drug therapy , Nail Diseases/pathologyABSTRACT
<p><b>OBJECTIVE</b>To detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism.</p><p><b>METHODS</b>Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was performed to amplify all coding exons of the ATP2A2 gene. And the products were directly sequenced to detect mutations.</p><p><b>RESULTS</b>A missense mutation c.1484C>T (p.S495L) in exon 12 was detected in all patients of the pedigree. For the sporadic case, a novel splicing mutation c.325-2A>G was detected at the junction between intron 4 and exon 5. The same mutations were not found in the 100 healthy controls.</p><p><b>CONCLUSION</b>Mutations of the ATP2A2 gene may lead to the occurrence of DD in both familial and sporadic cases with DD.</p>
Subject(s)
Aged , Child , Female , Humans , Male , Alternative Splicing , Genetics , Base Sequence , DNA Mutational Analysis , Darier Disease , Genetics , Family Health , Genetic Predisposition to Disease , Genetics , Mutation, Missense , Pedigree , Point Mutation , Sarcoplasmic Reticulum Calcium-Transporting ATPases , GeneticsABSTRACT
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.
Subject(s)
Humans , Female , Adult , Cicatrix/diagnosis , Alopecia/diagnosis , Lichen Planus/diagnosis , Syndrome , Cicatrix/pathology , Alopecia/pathology , Darier Disease/diagnosis , Lichen Planus/pathologyABSTRACT
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.
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