Postoperative chronic pain in arthroplasty papillon-lefèvre syndrome: 17-year dental follow-up: case report / Síndrome de papillon-lefèvre: seguimiento dental de 17 años: reporte de caso

Introduction: The present report describes the case of a 12-year-old patient with 17-year follow-up who was previously diagnosed with Papillon-Lefèvre Syndrome (PLS), which is a rare autosomal recessive irregularity in the cathepsin C gene (CTSC) characterized by palmoplantar hyperkeratosis and premature loss of primary and permanent teeth. Case Report: A specific mutation in the c.203 T > G gene inducing loss of function leading to PLS was detected, as was a mutation in the HLA-DRB1*11 allele, which is associated with this syndrome. There is no consanguinity of the parents, and the siblings are entirely healthy. Early identification of the main characteristics of this syndrome is imperative. Accurate diagnosis by genetic analysis allows differential diagnoses and timely comprehensive dental treatment. Conclusions: Additionally, it allows consultation with a dermatologist to maintain or improve the quality of life of patients with this condition due to progressive worsening and severity of the main physical manifestations. Keywords: Papillon-Lefevre Disease; Keratoderma, Palmo-plantar; Cathepsin C; Periodontitis; Skin Diseases, Genetic; Case reports

Introducción: El presente reporte describe el caso de un paciente de 12 años de edad con 17 años de seguimiento a quien previamente se le diagnosticó Síndrome de Papillon-Lefèvre (PLS), el cual es una rara irregularidad autosómica recesiva en el gen de la catepsina C (CTSC) caracterizada por hiperqueratosis palmoplantar y pérdida prematura de dientes primarios y permanentes. Reporte de Caso: Se detectó una mutación específica en el gen c.203 T > G que induce pérdida de función que conduce a PLS, así como una mutación en el alelo HLA-DRB1*11, que se asocia a este síndrome. No presenta consanguinidad de los padres, padres y hermanos totalmente sanos. La identificación temprana de las principales características de este síndrome es imperativa. El diagnóstico certero por análisis genético permite diagnósticos diferenciales y tratamientos odontológicos integrales oportunos. Conclusiones: Adicionalmente, permite la consulta con un dermatólogo para mantener o mejorar la calidad de vida de los pacientes con esta condición debido al progresivo empeoramiento y severidad de las principales manifestaciones físicas.

A case of classical Vohwinkel syndrome caused by the mutation p.N54H in the GJB2 gene / 中华皮肤科杂志

Objective:To detect gene mutations in 1 patient with Vohwinkel syndrome who presented with palmoplantar keratoderma, pseudo-ainhum and deafness.Methods:Clinical data were collected from the proband, and a genetic test was performed to identify mutation sites.Results:Clinical manifestations of the proband were consistent with classical Vohwinkel syndrome. The genetic test revealed a heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene, which was not detected in her parents or healthy controls.Conclusion:The heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene was first identified in a patient with classical Vohwinkel syndrome, and there were overlaps in mutation sites between classical Vohwinkel syndrome and palmoplantar keratoderma with deafness.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Abstract Background Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. Objective The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. Methods In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers. Results The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost. Study limitation Gene expression studies are absent that would have strengthened the findings of computational analysis. Conclusion The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

Queratodermia acuagénica / Aquagenic keratoderma

Resumen Introducción: La queratodermia acuagénica se desencadena tras el contacto de las palmas de las manos y las plantas de los pies con el agua. Se caracteriza por la aparición de pápulas translúcidas que forman placas de aspecto macerado. Puede asociarse con el consumo de ciertos medicamentos y con afecciones como la fibrosis quística, la atopia y la desnutrición, o ser idiopática. Caso clínico: Se describe el caso de una paciente de 17 años con dolor abdominal crónico funcional. Presentó una dermatosis de 2 meses de evolución que afectaba las palmas con «arrugamiento¼ después del contacto con el agua. Tras el estímulo con el agua, se observaron hiperlinealidad palmar y pápulas blanquecinas y translúcidas que formaban placas de aspecto macerado con una depresión central. Dermatoscópicamente se observaron estructuras blanquecinas anfractuosas de apariencia coraliforme y microgotas de agua. En el estudio histológico se observaron hiperqueratosis continua y dilatación del acrosiringio desde la dermis media hasta el estrato córneo. Con el cuadro clínico y los hallazgos histológicos, se confirmó el diagnóstico de queratodermia acuagénica y se inició el tratamiento, con el que se observó una mejoría parcial. Conclusiones: La queratodermia acuagénica es una afección subdiagnosticada y poco reportada. A pesar de cursar de forma indolente, puede considerarse como un marcador de enfermedad sistémica como la fibrosis quística. Ya que existe discusión sobre la nomenclatura de la enfermedad, consideramos ajustarnos a una nomenclatura descriptiva, como «placas blanquecinas y maceradas acuagénicas del acrosiringio¼. Es necesario continuar reportando estos casos para comprender mejor la enfermedad, ofrecer un manejo adecuado y dar seguimiento integral a los pacientes.

Abstract Background: Aquagenic keratoderma is triggered in the palms and soles after contact with water, and is characterized by the appearance of translucent papules forming macerated plaques. It may be associated with medications and diseases such as cystic fibrosis, atopy, and malnutrition, or be idiopathic. Case report: We describe the case of a 17-year-old female patient with chronic functional abdominal pain. She presented with a 2-month history of "wrinkling" of palms after contact with water. After stimulation with water, palmar hyperlinearity and whitish, translucent papules forming macerated-looking plaques with a central depression were observed. Dermoscopically, we observed whitish and anfractive structures with coral appearance and microdroplets of water. In the histological study, we observed continuous hyperkeratosis and acrosyringium dilation from the middle dermis to the stratum corneum. With the clinical presentation and histological findings, aquagenic keratoderma was diagnosed, and treatment was started with partial improvement. Conclusions: Aquagenic keratoderma is an underdiagnosed entity. Despite its indolent course, it could be considered as a marker of a systemic disease such as cystic fibrosis. Since the discussion about the terminology of the disease has arisen, we considered adjusting to a descriptive nomenclature, proposing the term whitish macerated aquagenic plaques of the acrosyringium. It is necessary to continue reporting these cases to understand the disease better and offer adequate management and comprehensive follow-up to the patients.

A preliminary study on the relationship between in vivo metal implants and acquired palmoplantar keratodermas / 中华皮肤科杂志

Objective:To investigate clinical characteristics of acquired palmoplantar keratodermas (PPK) and the effect of metal implants (MIs) on plasma cytokines in patients with PPK.Methods:An observational study was conducted. Patients with acquired PPK were collected from Department of Dermatology, General Hospital of Eastern Theater Command from June 2020 to December 2021, and health checkup examinees during the same period served as controls. The PPK area and severity index was evaluated according to the eczema area and severity index, metal allergens were detected by metal patch test (MPT) , and plasma levels of cytokines, including tumor necrosis factor (TNF) -α, interferon (IFN) -γ, interleukin (IL) -4, IL-13, IL-17A and IL-8, were detected by enzyme-linked immunosorbent assay. Non-normally distributed measurement data were expressed as median (quartile 1, quartile 3) , and analyzed by rank sum test; intergroup comparisons of enumeration data were performed by chi-square test.Results:A total of 81 PPK patients were collected, including 42 males and 39 females, and their average age was 48 years (range, 21 - 65 years) . In vivo MIs were found in 37 (45.7%) patients, including dental implants in 34, orthopedic implants in 2, and cardiac implants in 1. During the same period, 36 healthy subjects were included in the control group, and there was no significant difference in the age and gender composition between the two groups ( P > 0.05) . No significant difference was observed in the PPK area and severity index between the MI group (37 cases, 0.40 [0.27, 0.75] points) and non-MI group (44 cases, 0.38 [0.19, 0.70] points; Z = 1.21, P = 0.225) . Forty-six patients in the PPK patient group and 30 in the control group were subjected to MPT, and the positive rate of MPT was significantly higher in the patient group (14/46) than in the control group (2/30, χ2 = 6.17, P = 0.013) , and was significantly higher in the patients with in vivo MIs (10/25) than in the patients without (4/21, adjusted P < 0.017) . Plasma cytokines were detected in 36 cases in the patient group and 36 in the control group. The plasma levels of TNF-α and IFN-γ were significantly lower in the patient group (66.2 [58.7, 69.3] pg/ml, 645.0 [571.5, 681.1] pg/ml, respectively) than in the control group (71.5 [64.5, 73.9] pg/ml, 716.5 [620.4, 785.0] pg/ml, respectively; both P < 0.05) , but there was no significant difference in the levels of plasma IL-4, IL-13, IL-17A and IL-8 between the two groups (all P > 0.05) . Conclusions:Positive MPT reaction is more common in acquired PPK patients, especially in patients with in vivo MIs. There may be a correlation between metal and acquired PPK, and changes in plasma TNF-α and IFN-γ levels may be related to the onset of some acquired PPK.

Acroqueratoelastoidosis: reporte de un caso clínico / Acrokeratoelastoidosis: reportof a clinical case

Resumen La acroqueratoelastoidosis es una rara genodermatosis de herencia autosómica dominante, familiar o esporádica, siendo esta última la forma más frecuentemente reportada en la literatura. Fue descripta por el dermatólogo de origen brasileño Oswaldo Costa en el año 1953. Así las acroqueratodermias marginales son un subgrupo de queratodermiaspalmoplantares caracterizadas por la presencia de pápulas y placas queratósicas, con una disposición lineal, que asientan sobre el margen de transición entre la piel dorsal y palmar o plantar.Suelen iniciarse en la infancia, en la adolescencia o en la vida adulta temprana y tienen un curso crónico. Su diagnóstico diferencial con el resto de las acroqueratodermias es un gran desafío, siendo el hallazgo histológico de elastorrexis lo primordial para su correcto diagnóstico. Presentamos el caso de una mujer de 22 años con un cuadro compatible clínica e histopatológicamente con Acroqueratoelastoidosis.

Abstract Acrokeratolastoidosis is a rare genodermatosis of dominant autosomal, familial or sporadic inheritance, the latter being the most frequently reported form in the literature. It was described by the Brazilian dermatologist Oswaldo Costa in 1953. It is characterized by the presence of multiple hyperkeratotic papules, usually asymptomatic, located in the marginal area of the hands, feet or both. It usually begins in childhood, adolescence or early adult life and has a chronic course. Its differential diagnosis with the rest of the acrokeratosis is a great challenge, being the histological finding of elastorrexis the primary for its correct diagnosis. We present the case of a 22-year-old woman with a clinical and histopathology compatible with Acroqueratoelastoidosis.

Pityriasis rubra pilaris post-infection due COVID-19: case report / Pitiriasis rubra pilaris post-infección por COVID-19: reporte de un caso

Abstract Case description: 32-month-old boy, IgG positive for SARS-CoV-2, presented to the emergency department with dermatologic lesions. Clinical findings: Four days before admission, he presented skin eruptions with redness and pruritus on hands and feet. Generalized papular erythema was evidenced, upper extremities with diffuse erythematosquamous plaques, palmoplantar keratoderma, so he was evaluated by a dermatologist who diagnosed pityriasis rubra pilaris. Treatment and outcome: rehydrating cream, cetirizine 0.5 mg/kg/day every two days, and prednisolone 2 mg/kg/day in the morning. He was discharged after 14 days, the patient presented clinical improvement, but the erythematous lesion persisted on the trunk and extremities. In the evaluation, after three months, the patient did not show the described lesions, evidencing an improvement and clinical resolution of the dermatological problems. Clinical relevance: We report a patient with pityriasis rubra piloris associated with a post-infection by SARS-CoV-2 that had not been described before.

Resumen Descripción del caso: Niño 32 meses de vida, con IgG positivo para SARS-CoV-2, acude al servicio de emergencia por presentar lesiones dermatológicas. Hallazgos clínicos: Cuatro días antes del ingreso presentó erupciones en la piel, con enrojecimiento y prurito en manos y pies. Se evidenció eritema papular generalizado, extremidades superiores con placas eritematoescamosas difusas, queratodermia palmo-plantar por lo que es evaluado por dermatólogo quien diagnostica pitiriasis rubra pilaris. Tratamiento y resultado: Crema rehidratantes, cetirizina 0.5 mg/kg/día cada 2 días y prednisolona 2 mg/kg/día por la mañana. Fue dado de alta a los 14 días, el paciente presenta mejora clínica, pero aún persiste la lesión eritematosa en tronco y extremidades. En la evaluación a los tres meses el paciente no mostró las lesiones descritas, evidenciando una mejoría y resolución clínica de los problemas dermatológicos. Relevancia clínica: Se reporta un paciente con afectación por pitiriasis rubra piloris asociado a una post-infección por SARS-CoV-2 que no se había descrito antes.

Progressive symmetric erythematous keratosis with symptoms: a case report and literature analysis / 中国医师杂志

Objective:To analyze the associated symptoms of progressive symmetrical erythema keratosis (PSEK) and the related literature was reviewed.Methods:Two Mongolian PSEK families in the dermatology department of the People′s Hospital of Inner Mongolia Autonomous Region from 2016 to 2017 were collected, and 40 complete PSEK families and 156 sporadic cases at home and abroad published since 1980 to 2020 were searched by using the database to analyze the concomitant symptoms of PSEK.Results:A total of 40 complete PSEK families were included, including 714 cases. The incidence of PSEK was 57.38% in foreign countries and 37.42% in China; The most common concomitant symptoms abroad were palmoplantar keratosis (PPK), followed by nail changes, neurological symptoms, dysplasia, combined with variable erythema keratosis (EKV), and the concomitant symptoms were more serious; The most common concomitant symptoms in China were nail changes, followed by PPK, damp hyperhidrosis, pruritus, pain and some skin diseases, and the concurrent symptoms were mild.Conclusions:PSEK has many associated symptoms and the molecular genetic mechanism is still unclear. It is necessary to conduct a more comprehensive and in-depth study and understanding of the disease through the development of sequencing technology and the expansion of clinical cases.

Pitiriasis rubra pilaris: a propósito de un caso / Pityriasis rubra pilaris: case report

RESUMEN Se presenta caso de paciente masculino de 9 años de edad, fototipo VI acude a consulta especializada de Dermatología en el Hospital pediátrico William Soler por lesiones eritematoescamosas dispuestas en placas localizadas en ambas rodillas, acompañadas de queratodermia palmo plantar. Se realizan exámenes complementarios y biopsia de piel concluyéndose caso como pitiriasis rubra pilaris circunscrita juvenil. Esta dermatosis es de infrecuente presentación, desafío terapéutico por ausencia de estandarización internacional y cursa con una evolución impredecible.

ABSTRACT We present the case of a 9-year-ol, phototype 3, who attended a specialized dermatology consultation at the William Soler pediatric hospital due to erythematosquamous lesions arranged in plaques located on both knees accompanied by palmoplantar keratoderma. Laboratory tests and skin biopsies were carried out, concluding case as a juvenile and circumscribed pityriasisrubra pilaris. This is an infrequent dermatosis, a therapeutic challenge because of the absence of international standardized treatments and it has an unpredictable evolution.

Ictiosis lamelar en una unidad neonatal / Lamellar Ichthyosis: a case study in a neonatal unit

RESUMEN Introducción: en el recién nacido pueden ser evidentes numerosos trastornos hereditarios, que causan afectaciones en la pigmentación, textura, elasticidad e integridad estructural del tegumento. La ictiosis laminar o eritrodermiaictiosiforme congénita es una genodermatosis autosómica recesiva poco frecuente, caracterizada por un cuadro eritrodérmico, queratodermia palmo-plantar, onicosis y otros trastornos. Presentación del caso: recién nacido con ictiosis lamelar, hospitalizado en la unidad de cuidados intensivos neonatal del hospital Ginecobstétrico Fe del Valle Ramos, en el municipio de Manzanillo. El tratamiento se centró en mantener la entereza de la piel mediante humectación y lubricación continua con emolientes, control de la temperatura, nutrición y prevención de infecciones secundarias. Conclusiones: se afirma que la atención multidisciplinaria y la implementación del plan de cuidados, fue esencial para el éxito del tratamiento. Hubo mejora de la piel y mucosas, prevención de infecciones. Se favorecieron las condiciones de supervivencia y autonomía de los padres para los cuidados en domicilio.

ABSTRACT Introduction: in the newborn, numerous hereditary disorders may be evident, which can cause various aberrations of pigmentation, texture, elasticity and structural integrity of the integument. Among these pathologies are ichthyosis, from the Greek ichthys which means fish. Laminar Ichthyosis or Congenital Ichthyosiform Erythroderma (CIE) is a rare autosomal recessive genodermatosis (1/300 000 births worldwide), characterized by an erythrodermic condition, palmoplantar keratoderma (PPK), onicosis, and other disorders. Case report: a newborn with Lamellar Ichthyosis hospitalized in the neonatal intensive care unit at Fe del Valle Ramos Gynecological Obstetric Hospital, in Manzanillo municipality, Granma province. Medical care was based on maintaining the integrity of the skin through moisturizing and continuous lubrication with emollients, temperature control, nutrition and prevention of secondary infections. Conclusions: through the case study, it is stated that the medical appointments with other specialties for the multidisciplinary care and the implementation of the care plan were essential regarding the multidisciplinary success of the treatment. There was improvement of the skin and mucosa, prevention of infections, concluding with favorable conditions of survival and autonomy of the parents for home care.

Reporte de casos de ictiosis laminar en Honduras; desafío diagnóstico / Cases report of lamellar ichthyosis in Honduras; challenge diagnosis

INTRODUCCIÓN: la ictiosis es una enfermedad de origen genético que afecta principalmente la piel, posee varios tipos dependiendo el patrón de herencia. Dentro de las dominantes encontramos a la ictiosis vulgar, y en las recesivas la Ictiosis laminar, Eritroderma ictiosiforme, arlequín. La ictiosis laminar es una genodermatitis congénita que según datos estadísticos internacionales (EUA) reporta 1:200 000-300 000 recién nacidos, dentro de las bases de datos consultadas en Honduras, no se encontró la incidencia y prevalencia de esta enfermedad. MATERIALES Y MÉTODOS: se analizó el árbol genealógico de 6 pacientes más la valoración de las manifestaciones clínicas propias de cada individuo para determinar el patrón de herencia específico y así identificar el tipo de ictiosis. RESULTADO: el análisis mostró un patrón de herencia autosómico recesivo, consanguinidad en padres de los pacientes. CONCLUSIONES: La realización de un pedigrí es esencial en conjunto con la exploración clínica para el diagnóstico de ictiosis, en ausencia de pruebas genéticas e histopatológicas.

INTRODUCTION: ichthyosis is a disease of genetic origin in which the skin is mainly affected, it has different types depending on the inheritance pattern. Within the dominants we find the ichthyosis vulgaris and on the recessive ones we have the lamellar ichthyosis, harlequin Ichthyosis and Ichthyosiform erythroderma. Lamellar Ichthyosis is a congenital genodermatitis that according to international statistical data (US) it reports 1:200 000-300 000 newborns. Within the databases consulted in Honduras no prevalence and incidence of the disease was found. MATERIALS AND METHODS: it was analyzed the genealogical tree of 6 patients plus the valuation of clinical manifestations of each individual to determine the specific inheritance pattern to identify the type of Ichthyosis. RESULTS: the analysis demonstrated an autosomal inheritance pattern and consanguinity in the patient's parents. CONCLUSIONS: the realization of a pedigree it's essential in conjunction with clinical examination for the diagnosis of ichthyosis in absence of histopathologic and genetical tests.

Paquioniquia congénita tipo I o síndrome de Jadassohn- Lewandowsky: un caso de presentación familiar / Congenital pachyonychia type I or Jadassohn-Lewandowsky syndrome: a familial case

La paquioniquia congénita es una rara genodermatosis de herencia autosómica dominante, que produce alteración de la queratinización a nivel de piel, uñas y mucosas. El primer caso fue descrito por Jadassohn y Lewandowsky en 1906, y actualmente afecta a miles de personas en el mundo. El Registro Internacional de Investigación de Paquioniquia Congénita (IPCRR, del inglés, International PC Research Registry) ha identificado a nivel mundial hasta enero de 2020, 977 individuos en 517 familias con paquioniquia congénita, confirmadas genéticamente. Esta condición es considerada en nuestro país como una enfermedad huérfana, y previamente solo hay un reporte en la literatura de un caso en 2009. Se presenta el caso clínico de un paciente masculino de 23 años de edad procedente del área rural del municipio de Timbío, Colombia, con historia clínica de distrofia ungueal hipertrófica en todas las uñas de manos y pies, queratodermia palmoplantar y dolor plantar moderado a severo. Además, presentaba leucoqueratosis oral, hiperqueratosis folicular en muslos e hiperhidrosis palmoplantar. No presentaba quistes foliculares ni antecedente de dientes natales. Sus manifestaciones clínicas se catalogaron como propias de la paquioniquia congénita tipo I. Sumado a lo anterior, se identificaron características clínicas similares en otros miembros de la familia en tres generaciones, incluidos un hermano, la madre y la abuela materna, lo cual evidenció un patrón de herencia propio de esta enfermedad.

Pachyonychia congenita is a rare genodermatosis of autosomal dominant inheritance pattern that affects keratinization at the level of skin, nails and mucous membranes. The first case was described by Jadassohn and Lewandowsky in 1906 and it affects thousands of people around the world. The International Pachyonychia Congenita Research Registry (IPCRR) has identified until January 2020, worldwide, 977 individuals in 517 families with pachyonychia congenita genetically confirmed. This condition is considered in our country as an orphan disease and there has only been one previous case report in 2009. We present a case of a 23-year old male patient from the rural area of Timbio, Colombia, with a history of hypertrophic nail dystrophy in all nails and toenails, palmoplantar keratoderma and moderate plantar pain. In addition, he presented oral leucokeratosis, follicular hyperkeratosis in the thighs, and palmoplantar hyperhidrosis. No follicular cysts were present nor history of natal teeth. Clinical manifestations were classified as typical of congenital pachyonychia type I. Furthermore, similar clinical manifestations were identified in other family members from three generations, including his brother, mother and maternal grandmother, a characteristic inheritance pattern of this illness.

Acroqueratoelastoidosis de Costa: reporte de un caso esporádico / Acrokeratoelastoidosis of Costa: Report of a sporadic case / Acroqueratoelastoidose de Costa: relato de um caso esporádico

La acroqueratoelastoidosis de Costa es una rara genodermatosis autosómica dominante con expresividad variable, que se caracteriza por la presencia de múltiples pápulas hiperqueratósicas en la zona marginal de las manos, los pies o ambas. Debuta predominantemente en la niñez y vida adulta temprana, es de curso crónico y generalmente asintomática. Su diagnóstico diferencial del resto de las acroqueratodermias es un desafío para el clínico, sin embargo, el hallazgo histológico de elastorrexis nos permite categorizarla. Presentamos un caso esporádico de una paciente joven, con características clínicas e histopatológicas típicas de la enfermedad.

The acrokeratoelastoidosis of Costa is a rare genodermatosis of autosomal dominant inheritance with variable expressivity. It is characterized by the presence of multiple hyperkeratotic papules in the marginal zone of the hands and / or feet, which appears predominantly in childhood and early adulthood. It is generally asymptomatic and chronic. Its differential diagnosis from the rest of acrokeratodermias is a challenge for the physician; however, the histological finding of elastorhexis allows us to categorize it. We present a sporadic case of a young female patient, with clinical and histopathological characteristics typical of the disease.

A acroqueratoelastoidose de Costa é uma rara genodermatose autossômica dominante com expressividade variável, que se caracteriza pela presença de múltiplos pápulas hiperqueratósicas na zona marginal das mãos, dos pés ou ambas. Debuta predominantemente na infância e vida adulta precoce, é de curso crónico e geralmente assintomática. Seu diagnóstico diferencial do resto das acroqueratodermias é um desafio para o clínico, mas, a descoberta histológica de elastorrexis nos permite categorizá-la. Apresentamos um caso esporádico de uma paciente jovem, com características clínicas e histopatológicas típicas da doença.

Unna Thost syndrome: a case report

Unna thost syndrome is Palmo Plantar Keratoderma (PPK) of diffuse non epidermolytic type inherited in autosomal dominant fashion. Authors had a seven-year-old boy born to second degree consanguineous parents had palmoplantar keratoderma with hyperhidrosis with positive family history. He was promptly diagnosed and treated with acitretin and showed improvement.

Dermatosis inducida por el agua: queratodermia acuagénica, a propósito de un caso / Water-induced dermatosis: Aquagenic keratoderma. A case report

Resumen La queratodermia acuagénica es una entidad benigna, caracterizada por producir pápulas blanquecinas o traslúcidas pocos segundos después del contacto con el agua. Se presenta el caso de una paciente de 16 años de edad con aparición de múltiples pápulas confluentes y asintomáticas en ambas palmas al contacto con el agua, que desaparecían luego del secado. En el estudio de histopatología se observó dilatación de los conductos ecrinos y cambios en el estrato córneo. Esta rara condición de etiología desconocida se ha relacionado con disfunción neuronal, alteraciones de las glándulas ecrinas y, más recientemente, con alteraciones en las acuaporinas. Se puede diagnosticar con una prueba semiológica sencilla llamada 'la mano en el balde'; la sospecha clínica es fundamental para hacer el diagnóstico, ya que los hallazgos histopatológicos pueden ser sutiles e inespecíficos. El tratamiento tópico incluye mecanismos de barrera y la toxina botulínica.

Abstract Aquagenic keratoderma is a benign entity that is characterized by producing whitish or translucent papules a few seconds after contact with water. We present the case of a 16-year-old patient with multiple asymptomatic confluent papules that appeared on both hand palms after contact with water and which disappeared after drying. The histopathological findings in a skin biopsy after water exposure showed changes in the superficial layers of the stratum corneum and dilatation of sweat gland ducts. This entity of unknown etiology has been related to neuronal and eccrine gland dysfunction. Recently it has been associated with alterations of aquaporins. The "hand-in-the-bucket" sign is a simple useful clinical tool for diagnosis, as histopathological findings may be nonspecific. Topical treatments include barrier mechanisms and botulinum toxin.

Severe Keratoderma Blenorrhagicum simulating Psoriasis in reactive Arthritis: A case report

Introduction@#Severe keratoderma blenorrhagicum (KB) is a rare cutaneous manifestation of reactive arthritis (ReA) which can be indistinguishable from psoriasis, making the diagnosis challenging. This is a case of reactive arthritis in a 33-year-old female presenting with disabling, painful oligoarthritis which was accompanied by generalized pustular and scaly rashes simulating psoriasis.@*Case@#A 33-year-old female, Filipino, single with no known co-morbidities presented with disabling, painful oligoarthritis which was accompanied by generalized pustular and scaly rashes of two weeks duration. Her symptoms were preceded a few days earlier with a transient episode of conjunctivitis. She also reported having recently received treatment for “urinary tract infection”. There were generalized hyperkeratotic papules with areas of desquamation overlying erythematous skin involving the scalp, hairline, trunk, and extremities including palms and soles, with onycholysis on all digits. The right wrist and both ankles were warm, swollen and tender, with dactylitis involving most toes. Dermatology consult concurred with the diagnosis of keratoderma blenorrhagicum associated with reactive arthritis, over psoriasis or psoriatic arthritis, and she was started on prednisone 60 mg/day; methotrexate (MTX) 20 mg/week and folic acid were added a week later. With dramatic resolution of both skin and joint involvement, prednisone was tapered to 10 mg/day over the next three weeks and MTX was maintained at 15 mg/week, with no rebound nor recurrence of symptoms.@*Conclusion@#Severe KB is a rare cutaneous manifestation of ReA which can be indistinguishable from psoriasis. The acute onset of symptoms, recent history of eye inflammation and genitourinary tract infection strongly favored ReA over psoriasis. A further hallmark of KB is the presence of sterile pustules on the palms and soles. Histologically, KB has more numerous pustules and massive hyperkeratosis compared to psoriasis. Moreover, the dramatic response to systemic steroids, without rebound nor recurrence upon steroid taper or discontinuation favors KB over psoriasis.

Familial Pityriasis Rubra Pilaris in Siblings / 대한피부과학회지

No abstract available.

A Case of Costello Syndrome with Severe Palmoplantar Keratoderma / 대한피부과학회지

No abstract available.

A Case of Spiny Keratoderma on Both Hands and Feet in a Middle-aged Man / 대한피부과학회지

No abstract available.

A case of Carvajal syndrome caused by a spontaneous mutation in the desmoplakin gene / 中华皮肤科杂志

Objective@#To report a case of Carvajai syndrome caused by a spontaneous mutation in the desmoplakin (DSP) gene.@*Methods@#Clinical data were collected form a patient with Carvajal syndrome in Department of Dermatology, The First Affiliated Hospital of Zhengzhou University. Peripheral blood samples were obtained from the proband, his parents and 100 unrelated healthy controls, and blood genomic DNA was extracted. The ion torrent PGM second-generation sequencing platform was used to detect sequence variations in coding regions of exons in skin disease-related genes in the proband and his parents, and the pathogenic variation was verified by PCR-Sanger sequencing.@*Results@#The proband clinically presented with woolly hair, diffuse palmoplantar keratoderma, onychodysplasia, hypodontia and sinus arrhythmia as shown by electrocardiogram. Gene sequencing revealed a heterozygous missense mutation c.1790C>T (p.Ser597Leu) in exon 14 of the DSP gene in the proband, resulting in the substitution of serine by leucine at amino acid position 597. No mutation was identified in the proband′s parents or the 100 healthy controls, so the mutation in the proband is spontaneous. The patient was finally diagnosed with Carvajal syndrome according to the clinical manifestations, gene detection and auxiliary examination results.@*Conclusion@#The heterozygous missense mutation C.1790C>T (p.Ser597Leu) of the DSP gene may be the pathogenic mutation for the clinical phenotype of the patient.