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.

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.

Queratodermia aquagénica: reporte de un caso / Aquagenic keratoderma: report of a case

La Queratodermia Aquagénica (QA) es una enfermedad adquirida poco frecuente de tipo transitoria que se localiza de preferencia en palmas de manos y raramente en la planta de los pies. Mujer de 20 años, portadora de Fibrosis Quística (FQ) que consulta por lesiones en palmas de manos de aspecto blanquecino macerado que aparecen al tener contacto con el agua y que desaparecen en pocos minutos del secado. Se realiza estudio histológico cuyo resultado confirmo el diagnóstico de Queratodermia Aquagénica. Esta enfermedad se relaciona con Fibrosis Quística, Raynaud, entre otros. Se manifiesta al humedecer las manos y pies. Presentamos el caso por ser inusual y la importancia de sus asociaciones con otras enfermedades.

Aquagenic Keratoderma is a rare acquired disease of a transitional type, which is preferably located in the palms of the hands and very rarely in the soles of the feet. The case of a twenty-year-old woman with Cystic Fibrosis, who consulted for lesions in her palms with a whitish macerated aspect that appeared with the contact of water and disappeared a few minutes after drying. Histological studies have been done confirming the Aquagenic Keratoderma diagnostic. This disease is related to Cystc Fibrosis and Raynaud, among others. It manifests when the palms of the hands and the soles of the feet get wet. We present this case because it is unusual and because of the important association with other diseases.

Clouston Syndrome: 25-year follow-up of a patient

Abstract: Clouston syndrome is a rare genodermatosis that affects skin and annexes. It is a form of ectodermal dysplasia characterized by generalized hypotrichosis, palmoplantar hyperkeratosis and nail dystrophy. This paper reports a 25-year follow-up of a patient with Clouston syndrome, from childhood to adulthood, monitoring diagnosis and clinical course of the disease.

Syphilis associated with paretic neurosyphilis mimicking Reiter’s syndrome in HIV-infected patients

HIV/syphilis co-infection is common because both conditions affect similar risk groups. HIV interferes with the natural history of syphilis, which often has atypical clinical features and nervous system involvement in the early stage of disease. We report the case of an HIV-positive patient with secondary syphilis, scaling palmoplantar keratoderma, scrotal eczema, balanitis and urethritis mimicking Reiter’s syndrome. Immunohistochemistry using polyclonal antibodies against Treponema pallidum revealed the presence of spirochetes, associated with the paretic form of parenchymal neurosyphilis. The patient was given crystalline penicillin, with complete resolution of dermatological and neurological symptoms, and no sequelae.

A case of secondary syphilis mimicking palmoplantar psoriasis in HIV infected patient

Due to diverse clinical and histopathological presentations, diagnosis of secondary syphilis can occasionally prove challenging. Variable clinical presentations of secondary syphilis in HIV disease may result in an incorrect diagnosis and an inappropriate treatment regimen. Similarly, the histology of secondary syphilitic lesions may show considerable variation, depending on the clinical morphology of the eruption. We report a case of secondary syphilis in an HIV infected patient with cutaneous palmoplantar lesions simulating palmoplantar psoriasis.

Syndrome in question

Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.

Exuberant clinical picture of Buschke-Fischer-Brauer palmoplantar keratoderma in bedridden patient

Buschke-Fisher-Brauer keratoderma is a rare hereditary autosomal dominant disease of incomplete penetrance. Important differential diagnoses include other palmoplantar keratinization disorders, acquired or hereditary, which is done based on the histopathological findings. This diagnosis alerts especially about the possibility of associated neoplasms. Treatment involves topical keratolytic agents, usually with little efficacy, or with long-term systemic retinoids with follow-up of exuberant collateral effects.

Case for diagnosis

Focal acral hyperkeratosis is a rare genodermatosis with an autosomal dominant pattern of inheritance. It is characterized by usually asymptomatic keratotic papules along the borders of the hands and/or feet. The main differential diagnosis is acrokeratoelastoidosis of Costa, which differs from the former only by not presenting elastorrhexis in histopathological examination, thus requiring this exam for a correct diagnosis.

Abordagem cirúrgica de faixas constritivas em Síndrome de Vohwinkel / Surgical correction of constrictive bands in Vohwinkel syndrome

A Síndrome de Vohwinkel ou ceratodermia hereditária mutilante é uma ceratodermia palmoplantar rara, que se manifesta na infância e se torna mais evidente nas fases de adolescência e idade adulta. Doença de herança preferencialmente autossômica dominante, acomete mais mulheres e caucasianos. A hiperceratose palmoplantar difusa, com aparência de favo de mel; as faixas constritivas digitais conhecidas como pseudoainhum, e as placas ceratósicas em forma de estrela-do-mar no dorso de mãos e pés, podendo acometer cotovelos e joelhos, são os achados clínicos característicos da Síndrome. O presente trabalho trata de um relato de caso de uma paciente com Síndrome de Vohwinkel e a terapêutica cirúrgica realizada nas faixas constritivas.

Vohwinkel syndrome, also known as hereditary mutilating keratoderma, is a rare palmoplantar keratoderma that manifests in childhood and becomes more evident in adolescence and adulthood. This preferential autosomal dominant disease affects more women and Caucasians. Its clinical features are diffuse palmoplantar keratoderma with the appearance of honeycomblike constricting rings in the fingers and toes known as pseudo-ainhum, and starfish-shaped keratotic plaques on the dorsal aspect of the hands and feet that can affect the elbows and knees. The present report describes a case report of a patient with Vohwinkel syndrome and surgical correction of the constrictive bands.

Clouston syndrome associated with eccrine syringofibroadenoma

Eccrine syringofibroadenoma is a rare benign neoplasia derived from acrosyryngium cells of the eccrine sudoriferous glands. It affects the extremities of elderly individuals as solitary tumors, or may also present as multiple lesions. There are controversies about the pathogenesis and differentiation of the tumor. Eccrine syringofibroadenoma has been associated with subjacent conditions, such as for example, hypohidrotic ectodermic dysplasias. The authors describe a case report of a patient with Clouston Syndrome, who presented papules and nodules in extremities, clinically and histologically compatible with eccrine syringofibroadenoma. There are only three cases described in the literature, associated with Clouston Syndrome, and this is the fourth case.

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.

Circumscribed palmoplantar hypokeratosis: report of two brazilian cases / Hipoqueratose circunscrita palmoplantar: relato de 2 casos brasileiros

Circumscribed palmoplantar hypokeratosis is a recently recognized dermatosis and rarely reported. It was first described in 2002 and is characterized by localized loss of the horny layer in the palmoplantar area. This dermatosis is clinically presented with a sharply circumscribed, reddish and asymptomatic plaque with slightly depressed surface localized on the palms or the soles. The clinical differential diagnosis includes mainly porokeratosis and Bowen's disease. Its pathogenesis remains unknown, but studies have proposed a human papillomavirus induced disease or a localized keratinization disorder in the palmoplantar area. We report herein two cases of patients with lesions clinically and microscopically compatible with the diagnosis of circumscribed palmoplantar hypokeratosis. We also present a brief literature review of the etiopathogenic hyphoteses of this dermatosis.

A hipoqueratose palmar circunscrita é uma condição rara e pouco conhecida que foi caracterizada apenas em 2002. Caracteriza-se por uma perda circunscrita e focal da camada córnea das regiões palmares ou plantares. Clinicamente, observam-se lesões avermelhadas, circunscritas, arredondadas, discretamente deprimidas e assintomáticas, nas palmas ou, mais raramente, nas plantas. A diagnose diferencial clínica é feita principalmente com a poroqueratose palmoplantar e com a disqueratose de Bowen. Sua patogênese é desconhecida, havendo especulações sobre possível origem viral ou de alteração localizada da expressão de citoqueratinas das regiões palmoplantares. Relatamos os casos clínicos de duas doentes femininas com lesões clínicas e alterações histopatológicas características de hipoqueratose palmar circunscrita de evolução crônica, além de uma breve revisão da literatura sobre as hipóteses etiopatogênicas desta dermatose.

Unilateral punctate porokeratosis - Case report / Poroceratose punctata unilateral - Relato de caso

This case report involves a 20-year-old man with unilateral punctate porokeratosis. The patient presented an 8-year history of numerous asymptomatic keratotic papules and pits with linear distribution on his left pal-mar surface and fifth finger of the left hand. Histopathological examination of the keratotic plug revealed findings of distinct epidermal depressions containing cornoid lamellae. This report review draws attention to differential diagnoses of punctate porokeratosis.

Relata-se o caso de um homem de 20 anos de idade com poroceratose punctata, caracterizada por múltiplas pápulas queratósicas e depressões, com disposição linear localizada à região palmar da mão e 5º dedo esquerdos, com cerca de 8 anos de evolução. O estudo histológico mostrou presença de depressão da epiderme, preenchida por característica lamela cornóide. Foi realizada revisão da literatura e ressaltado o seu diagnóstico diferencial.

Mal de Meleda: relato de 2 casos de ocorrência familiar / Mal de Meleda: a report of two cases of familial occurrence

Mal de Meleda é uma ceratodermia palmoplantar transgressiva rara, com prevalência estimada de 1:100.000 habitantes, descrita em 1826 por Stulli, na Ilha de Meleda. A herança autossômica recessiva foi descrita em 1938 e a alteração gênica no lócus 8qter, documentada em 1998. As principais manifestações clínicas decorrem da alteração da ceratinização palmoplantar. Há intensa hiperceratose transgressiva com eritema também no dorso das mãos e pés com distribuição em luvas e botas O aconselhamento genético faz-se necessário, sobretudo nos casos de consanguinidade. Nosso objetivo é relatar 2 casos de ocorrência familiar de pais consanguíneos.

Mal de Meleda is a rare transgressive palmoplantar keratoderma with an estimated prevalence of 1 in 100,000 individuals. It was first described in 1826 by Stulli on the island of Mljet. Its autosomal recessive inheritance was described in 1938, and the defective gene was localized to chromosome 8qter in 1998. Clinical features are the result of abnormal palmoplantar keratinization and include severe symmetrical transgressive hyperkeratosis and erythema of the feet and hands in a glove-and-sock pattern. Genetic counseling is mandatory in cases of consanguinity. We report two cases of familial occurrence in the offspring of consanguineous parents.

Você conhece esta síndrome? / Do you know this syndrome?

A síndrome KLICK é uma genodermatose rara, autossômica recessiva, caracterizada pela associação de queratodermia palmo-plantar difusa e transgressiva, com esclerodactilia, placas hiperqueratóticas lineares localizadas preferencialmente em flexuras e ictiose congênita. Não há alterações em fâneros ou mucosas, assim como sintomas sistêmicos associados. O tratamento consiste no uso de queratolíticos tópicos e retinóides orais.

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare autosomal recessive skin disorder characterized by the association of diffuse, transgressive palmoplantar keratoderma with sclerodactyly, linear hyperkeratotic plaques generally located in flexures, and congenital ichthyosis. The patient is physically and mentally healthy and has no history of any problems related to teeth, nails, hair or mucous membranes. Treatment is based on the use of topical keratolytics and oral retinoids.

Você conhece esta síndrome? / Do you know this syndrome?

A Síndrome de Huntchinson-Gilford (Progeria) é uma rara doença autossômica dominante, caracterizada pelo envelhecimento precoce. Relata-se caso de uma criança, que aos 6 meses iniciou alopecia na região occipital e placas esclerodermiformes no abdome. Esta síndrome apresenta alterações em vários órgãos e sistemas como a pele, esquelético e sistema cardiovascular. O diagnóstico é clínico e não possui tratamento, porém seu reconhecimento é necessário para minimizar a aterosclerose precoce através do controle da dislipidemia.

Huntchinson-Gilford Syndrome (Progeria) is a rare autosomal dominant disease characterized by premature aging. It is reported the case of child whose alopecia started at the age of 6 months on the occipital region. The child also presented scleroderma plaques on the abdomen. This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems. The diagnosis is clinical and there is no treatment for it but recognition is necessary to minimize early atherosclerosis through the control of dyslipidemia.