Hiperqueratosis plantar / Plantar hyperkeratosis

RESUMEN La hiperqueratosis es un trastorno caracterizado por el engrosamiento de la capa externa de la piel, que está compuesta de queratina, una fuerte proteína protectora. Puede ser causada por fricción, conllevando la aparición de callosidades, inflamación crónica, eccema o trastornos genéticos, como la ictiosis ligada al cromosoma X. Se presentó el caso de un paciente de 47 años, que acudió al Servicio de Ortopedia por lesión escamosa a nivel de ambas regiones plantares con dificultad para la marcha. El tratamiento quirúrgico fue el empleado en este paciente para la obtención de la biopsia exerética. La evolución fue favorable en el postoperatorio mediato e inmediato, y el paciente se incorporó de forma rápida a su vida normal. Con este caso se identificaron las características clínicas de la hiperqueratosis plantar, así como el uso de la biopsia exerética como estándar de oro para el diagnóstico positivo en los tumores periféricos. Un diagnóstico adecuado por el médico inicial, la interrelación del Servicio de Ortopedia con la consulta de tumores periféricos, y el tratamiento quirúrgico seleccionado, constituyen factores determinantes en la evolución favorable de los pacientes con este diagnóstico (AU).

ABSTRACT Hyperkeratosis is a disorder characterized by thickening of the outer layer of the skin, which is composed of keratin, a strong protective protein. It can be caused by friction, leading to callosities, chronic inflammation, eczema or genetic disorders such as X chromosome-linked ichthyosis. We presented the case of a patient, aged 47 years, who attended the Orthopedic Service for scaly lesion at the level of both plantar regions with difficulties to walk. Surgical treatment was used in this patient to obtain an exeretic biopsy. The evolution was favorable in both the mediate and immediate postoperative period, and the patient quickly returned to his normal life. This case identified the clinical characteristics of plantar hyperkeratosis and the use of exeretic biopsy as a gold standard for positive diagnosis in the peripheral tumors. An adequate diagnosis by the initial physician, the interrelation of the orthopedic service with the consultation of peripheral tumors, and the chosen surgical treatment are determining factors in the favorable evolution of patients with this diagnosis (AU).

Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient featuring autosomal dominant Olmsted syndrome.@*METHODS@#Clinical features of the patient was reviewed. High-throughput sequencing was carried out to detect potential genetic variants.@*RESULTS@#The proband, a 12-year-old girl, featured excessive keratinization on hands and feet, contracture of finger joints, and abnormal position and residual contraction of the fifth toes. Skin biopsy showed significant hyperkeratosis, epidermal hyperplasia, and mild interepidermal cell edema. A de novo heterozygous missense variant c.2016G>T(p.Met672Ile) was identified in the TRPV3 gene by high-throughout sequencing. The result was verified by Sanger sequencing.@*CONCLUSION@#The destructive palmoplantar keratosis in the child may be attributed to the c.2016G>T(p.Met672Ile) variant of the TRPV3 gene. Aboving finding has provided new evidence for the correlation of genetic variants with clinical phenotypes of Olmsted syndrome.

Vohwinkel syndrome: ichthyosiform variant in a family

Abstract: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear. We report a case of OS in a 3-year-old Korean girl and its underlying gene mutation. The patient presented with a disabling, bilateral palmoplantar keratoderma with onychodystrophy. She also exhibited pruritic eczematous skin lesions around her eyes, ears and gluteal fold. Genetic analysis identified a heterozygous p.Gly568Val missense mutation in the exon 13 of TRPV3. To our knowledge, this is the first case of OS in the Korean population showing a missense mutation p.Gly573Ser.

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations

Abstract Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous family. The patients presented unique clinical features that were different from other known Inherited Palmoplantar Keratodermas -hearing loss syndromes. Mutations in GJB2 or GJB6 and the mitochondrial A7445G mutation, known to be the major causes of diverse Inherited Palmoplantar Keratodermas -hearing loss syndromes were not detected by Sanger sequencing. Moreover, the pathogenic mutation could not be identified using whole exome sequencing. Other known Inherited Palmoplantar keratoderma syndromes were excluded based on both clinical criteria and genetic analysis.

Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report / Sindrome de Vohwinkel, variante ictiosiforme - de Camisa - Relato de caso

Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.

A síndrome de Vohwinkel ou queratodermia hereditária mutilante é uma queratose palmo-plantar rara, autossômica dominante, que se manifesta em crianças e se torna mais evidente na vida adulta. Seu modo de herança é autossômica dominante com mutação na loricrina e no gen da Conexina 26. Os pacientes com esta mutação apresentam hiperqueratose das palmas das mãos e plantas dos pés, com bandas constritivas dos dígitos, normalmente no quinto dedo e hiperqueratose em forma de estrela do mar nas regiões dorsais das mãos e dos pés. A doença ocorre principalmente em mulheres brancas, onde as bandas constritivas fibrosas aparecerem nos dígitos e podem levar ao estrangulamento progressivo e auto-amputação (pseudo-ainhum).Os autores relatam o caso de uma variante ictiosiforme da síndrome de Vohwinkel.

Hiperqueratosis epidermolítica: variabilidad clínica de un mismo sustrato histopatológico. Comunicación de 5 casos / Epidermolytic hyperkeratosis: clinical variability of the same histopathological substrate. Report of five patients

El término histológico de hiperqueratosis epidermolítica hace referencia a la presencia de hiperqueratosis, hipergranulosis y epidermolisis. Su expresión clínica es variable, e incluye a la ictiosis epidermolítica, su variedad en mosaico y la queratodermia palmoplantar epidermolítica, entre otros. Presentamos 5 casos con diagnóstico histológico de hiperqueratosis epidermolítica y diferentes cuadros clínicos de presentación. Casos clínicos. Dos casos presentaron la variedad en mosaico con aspecto de nevo verrugoso que sigue las líneas de Blaschko, uno con manifestación unilateral y el otro bilateral; un tercer paciente presentó queratodermia palmoplantar y los dos pacientes restantes, las variedades generalizadas: uno de ellos con eritrodermia y ampollas en etapa neonatal y el otro en el estadio hiperqueratósico. Conclusión. La hiperqueratosis epidermolítica representa un patrón histopatológico que se expresa con variadas formas clínicas, lo cual repercute en la calidad de vida de los pacientes y hace necesario el asesoramiento genético.

Enfermedad de Darier palmoplantar / Palmoplantaris Darier disease

Presentamos un paciente de 22 años de edad que consulta por queratodermia palmoplantar difusa. A pesar de que las características clínicas son comunes a otras queratodermias, las imágenes histopatológicas nos permiten arribar al diagnóstico de enfermedad de Darier palmoplantar. Nos referimos a un nuevo caso de esta rara entidad y realizamos una revisión de tema.

Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma.

Naxos disease is a rare genodermatosis with woolly hair, keratoderma of palms and soles and cardiomyopathy. A seven-year-old boy presented with woolly hair and hyperkeratotic lesions on the palms and soles since birth. His cardiac status was evaluated and echocardiography revealed early cardiomyopathy. Scalp biopsy revealed hair shaft in an angulated outline suggestive of woolly hair. So the diagnosis of Naxos disease was made. Since he was asymptomatic no treatment was offered but a regular follow-up of the patient and treatment of emergent symptoms should prevent sudden death.

Variant of Vohwinkel's syndrome.

A 28-year-old female born to consanguineous parents, presented with progressive palmoplantar keratoderma since the age of six months and a constricting band on right fourth finger of one year duration. There was history of similar complaints being present in two other family members. Associated clinical findings included starfish-shaped cornified plaques on knuckles, resorption of distal phalanges and keratotic plaques on elbows, groins and knees. The patient was mentally sound and had normal audiometry. Biopsy from hyperkeratotic plaque showed hyperkeratosis, parakeratosis, increased granular layer and papillomatosis. Gene mapping for loricrin mutation was found to be negative.

Papillon Lefevre syndrome.

Papillon Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one-third of cases. Pyogenic liver abscess is an increasingly recognized complication. We report a new case of this association and review the current literature.

[Mal de meleda. About 16 cases]

Mal de Meleda is a recessive transgressive palmoplantar keratoderma. We report the epidemiological, clinical and progressiveness aspects of the disease in 16 patients of a large consanguineous Tunisian family, the age ranged from 3 to 90 years. Nine were male and 7 female patients. Onset in early infancy was characterized by erythema of the palms and sole, followed by a diffuse yellowish hyperkeratosis. Thickness of the dorsal aspect of the fingers started in childhood. Extension of hyperkeratosis to the dorsa of the hand were reported only in adults and usually precede the involvement of the feet Palmoplanatar hyperhidrosis with fetid odor between the toes was frequently seen as well as conical distal phalanges. In some adults, keratoderma gave contracture of the fingers leading to limitation of movementsMal de Meleda must be differentiated from other recessive plamoplantar keratodermas such as Papillon le fever syndrome and male de Naxos the remaining inherited pal moplantar keratodermas being autosomal dominant. Mal de meleda is rare disease but is still relatively frequent in some Tunisian regions, due to the high rare of consanguinity Mal de Meleda remains an afflicting and disabling disease

Keratoderma palmoplantaris transgrediens [Mal de Meleda]: a case report

Mal de Meleda [keratoderma palmoplantaris transgrediens] is a rare autosomal recessive form of palmoplantar keratoderma with hyperkeratosis of palms and soles, which appears soon after birth and progressively involves other areas [transgrediens] of the skin especially dorsal aspects of hands and feet. We report a 20-year-old woman with Mal de Meleda with some unusual clinical features, i.e. peculiar finger nail anomalies and pseudoainhum on all her fingers

Ceratodermia poroceratótica espiculada / Porokeratotic keratodermis

Trata-se, provalvelmente, do primeiro caso brasileiro de uma forma peculiar de ceratodermia palmoplantar assemelhada a 'espículas de caixinha de música'. O exame histopatolágico revelou coluna compacta de paraceratose semelhante à lamela cornóide encontrada nas poroceratoses

Callosidades dolorosas constitucionales: tratamiento con etritinato / Constitutional painful callosities: treatment with etretinate

Se describe un caso de queratodermia palmoplantar circunscripta, bilateral, con paquioniquia e hiperhidrosis, en una paciente de sexo femenino, de 32 años de edad, sin antecedentes heredofamiliares de la afección. Se la trató con etretinato durante 3 meses , obteniéndose la remisión de las lesiones y su sintomalogía hasta la actualidad. Proponemos, de acuerdo a la revisión realizada, la clasificación de los cuadros de callosidades dolorosas en constitucionales o hereditarias. Nuestro caso constituye la segunda observación en la bibliografía de callosidades dolorosas constitucionales (CDC).

Poroqueratosis plantaris, palmaris et disseminata / Porokeratosis plantaris, palmaris et disseminata

La paroqueratosis plantaris, palmaris et disseminata es una rara forma de poroqueratosis descrita por primera vez por Guss, Osbourn y Lutzner en 1971. A nuestro conocimiento hay 18 casos publicados en la literatura. Es una genodermatosis autosómica dominante de penetración variable. Se ha señalado un predominio por el sexo masculino. Habitualmente se inicia entre los 15-23 años. Presenta localización electiva palmo-plantar con diseminación a tronco, extremidades y zonas no expuestas. Histológicamente comparte un nexo común con las otras formas de poroqueratosis: la lámina cornoide. Se ha señalado la posibilidad de transformación maligna como lo indican Guss, Osbourn y Lutzner (2 epiteliomas espinocelulares en un mismo paciente); Constandt, De Kaiser y Kinta (una enfermedad de Bowen y Von Tausch, Audring y Klug (atipías celulares). No existe tratamiento definitivo hasta la fecha, obteniéndose los mejores resultados con los ritinoides por vía oral. Presentamos el caso de un paciente de 73 años, que comienza su dermatosis a la edade de 35 años y cuyas características clínicas e histopatológicas concluyen en poroqueratosis plantaris, palmaris et disseminata. Destacamos los antecedentes familiares (hermano y primo-hermano con la misma dermatosis). Presentó a nivel de cara anterior de antebrazo izquierdo una lesión excoriada que histológicamente presentó características de lesión preepiteliomatosa. Concluímos en la importancia de la vigilancia estrecha de estos pacientes por el posible potencial de malignización de la poroqueratosis plantaris, palmaris et disseminata