Acroqueratoelastoidosis de Costa / Acrokeratoelastoidosis of Costa

La acroqueratoelastoidosis de Costa es una genodermatosisde herencia autosónimica dominante con penetrancia incompleta. Es un trastorno de las fibras elásticas exclusivamente cutáneo y a nivel acral. Se caracteriza por la presencia de pápulas eritematosas, amarillentas o del color de la piel normal en la cara marginal de los dedos de las manos o de los pies, que se agrupan, forman placas con aspecto de empedrado y se extienden de forma simétrica al dorso, las palmas y las plantas. El hallazgo histológico patognomónico es la elastorrexis. Se presenta el caso de un niño de 7 años con una acroqueratoelastoidosis que comprometía las manos y los pies, asociada a prurito.

Acrokeratoelastoidosis of Costa is a genodermatosis of autosomal dominant inheritance with incomplete penetrance.It is a cutaneous disorder of the elastic fibers at the acral level.The clinical feature is the presence of erythematous, yellowish or normal skin-colored papules on the marginal aspect of the fingers and/or toes, which agminate to form cobblestone-like plaques and extend symmetrically to the dorsum and palms and soles. The pathognomonic histologic finding is elastorrhexis. We present a 7-year-old boy with acrokeratoelastoidosis involving hands and feet, associated with pruritus.

Síndrome de piel indurada en un paciente pediátrico: un desafío terapéutico. Presentación de un caso / Stiff skin syndrome in a pediatric patient: a therapeutic challenge. Clinical case

El síndrome de la piel indurada es un trastorno esclerosante crónico, infrecuente, que se presenta en la infancia, caracterizado por la induración progresiva de la piel. Esta afección puede provocar restricciones torácicas y dificultad respiratoria, limitaciones en la movilidad articular y trastornos en la marcha, con importante deterioro de la calidad de vida. Debido a que sus opciones terapéuticas son escasas y poco eficaces, es fundamental que el paciente inicie precozmente una terapia física para prevenir estas complicaciones y que se continúe estudiando esta enfermedad a fin de poder ofrecer a los pacientes más y mejores tratamientos. Se presenta el caso de una paciente de 9 años con síndrome de la piel indurada y su desafío terapéutico.

Stiff skin syndrome is a chronic, rare sclerosing disorder that occurs in childhood, characterized by progressive induration of the skin that can cause thoracic restrictions and respiratory distress, limitations in joint mobility and gait difficulties, with significant deterioration of the quality of life. Because their therapeutic options are scarce and ineffective it is essential to start an early physical therapy to prevent these complications and to continue studying this condition to be able to offer patients more and better treatments. We present the case of a 9-year-old patient with indurated skin syndrome and its therapeutic challenge.

Osteonevus of Nanta: a case report in a combined melanocytic nevus

Abstract Secondary osteoma cutis is a phenomenon that may occur in several conditions. When it occurs in a melanocytic nevus it is named osteonevus of Nanta, an event considered uncommon and characterized by the presence of bone formation adjacent or interposed with melanocytic cells. There are reports of its occurrence in various melanocytic lesions, being more frequently associated with intradermal nevus. We report a case of osteonevus of Nanta in combined nevus, possibly the first description of this association.

Trichoscopy findings in dissecting cellulitis

Abstract Dissecting cellulitis is an inflammatory, chronic, and recurrent disease of the hair follicles that mainly affects young Afro-descendent men. Trichoscopy is a method of great diagnostic value for disorders of the scalp. Clinical and trichoscopic findings of dissecting cellulitis are heterogeneous and may present features common to non-cicatricial and scarring alopecia. This article presents the trichoscopic findings of dissecting cellulitis that help in the diagnosis and consequent institution of the appropriate therapy and better prognosis of the disease.

Treatment of ligneous conjunctivitis with heterologous serum / Tratamento de conjuntivite lenhosa com soro heterólogo

ABSTRACT Ligneous conjunctivitis is a rare form of chronic and recurrent bilateral conjunctivitis, in which thick membranes develop on the tarsal conjunctiva and on other mucosae. We report the case of a 55-year old female patient with bilateral ligneous conjunctivitis who was successfully treated with 50% heterologous serum. There was no recurrence or side effects after one-year follow-up. We suggest the use of 50% heterologous serum should be further studied to better determine its efficacy as a treatment option for ligneous conjunctivitis.

RESUMO A conjuntivite lenhosa é uma forma rara de conjuntivite bilateral crônica e recorrente, na qual há formação de membranas espessas na conjuntiva tarsal e em outras mucosas. Relatamos o caso de uma paciente de 55 anos com conjuntivite lenhosa bilateral, que obteve sucesso no tratamento com soro heterólogo em concentração de 50%. Não houve recorrência após um ano de seguimento e nem efeitos colaterais ao tratamento. Dessa forma, o uso de soro heterólogo a 50% poderia ser mais estudado para melhor avaliação de sua eficácia como opção de tratamento para a conjuntivite lenhosa.

Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature

We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 (NF1) due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and NF1. However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for NF1. Besides, it may be suitable that these individuals with piebaldism showing NF1-like clinical phenotypes should be further tested for KIT and SPRED1 gene mutations.

Ictiose lamelar com apresentação na vida adulta: relato de caso / Ichthyosis lamellar with presentation in adult life: case report

Contexto: A ictiose lamelar é uma genodermatose rara, de herança autossômica recessiva. Pode ser causada por diferentes genes, principalmente mutação no gene TGM1 (transglutaminase 1) no cromossomo 14, e tem incidência de 1 caso em cada 200 mil nascidos vivos. A ictiose lamelar é causa de importante impacto na qualidade de vida. Relato da comunicação: Paciente do sexo feminino, 44 anos, procura atendimento médico para investigação de sintomas psiquiátricos, os quais foram avaliados. Foi afastado qualquer quadro psiquiátrico. Encaminhada à dermatologia, devido a evidente descamação lamelar disseminada, queratodermia palmoplantar, onicodistrofias e ectrópio bipalpebral. O exame clínico dermatológico e a avaliação histopatológica, evidenciaram características de ictiose lamelar, nunca tratada. Discussão: A ictiose lamelar é, na maioria das vezes, diagnosticada ao nascimento, com apresentação clínica muitas vezes sob a forma de bebê colódio. Este caso apresentou-se na vida adulta, com história desde o nascimento e, portanto, descartou-se a ictiose adquirida, relacionada a afecções nutricionais, metabólicas ou até paraneoplásicas. Conclusões: Este caso ilustra as manifestações da ictiose lamelar em paciente adulta em sua evolução natural, sem a interferência de tratamento.

Risk factors associated with actinic prurigo: a case control study

Abstract: Background: Actinic prurigo (AP) is an idiopathic photodermatosis. Although its initial manifestations can appear in 6 to 8-year-old children, cases are diagnosed later, between the second and fourth decades of life, when the injuries are exacerbated. Objective: To identify risk factors associated with clinical manifestations of AP such as skin and mucosal lesions. Methods: Thirty patients with AP and 60 controls were included in the study, the dependent variable was the presence of skin or labial mucosal lesions, the independent variables were age, sex, solar exposure, living with pets or farm animals, exposure to wood smoke, smoking habit, years smoking, and hours spent per day and per week in contact with people who smoke. Results: Of the 30 diagnosed AP patients, 66.7% were female. Patients age ranged from 7 to 71 years and the mean age was 35.77 ± 14.55 years. We found significant differences with the age and cohabitation with farm animals. Those who lived with farm animals presented 14.31 times higher probability of developing AP (95% CI 3-78.06). Study limitations: This is a case-control study; therefore, a causal relationship cannot be proven, and these results cannot be generalized to every population. Conclusions: The identification of factors related to the development of AP increases our knowledge of its physiopathology. Moreover, identifying antigens that possibly trigger the allergic reaction will have preventive and therapeutic applications in populations at risk of AP.

Yellow dots in trichoscopy: relevance, clinical significance and peculiarities

Abstract: Yellow dots are follicular ostium filled with keratin and/or sebum. Initially, they were exclusively associated with alopecia areata. Currently they have also been described in androgenetic alopecia, chronic cutaneous (discoid) lupus erythematosus, and dissecting cellulitis. Due to the growing importance of trichoscopy and its findings in the evaluation of the scalp, this article describes the main diseases in which yellow dots are a common trichoscopic finding, highlighting its characteristics in each dermatosis.

Association of amyloidosis cutis dyschromica and familial Mediterranean fever

Abstract: Amyloidosis cutis dyschromica is a rare type of primary cutaneous amyloidosis characterized by reticulate hyper-pigmentation with discrete hypopigmented macules. Up to date, about 50 cases of amyloidosis cutis dyschromica have been reported and the majority are familial cases of Asian ethnicity. Various diseases, particularly autoimmune diseases such as systemic sclerosis and systemic lupus erythematosus, have been associated with amyloidosis cutis dyschromica. Herein, we report a case of amyloidosis cutis dyschromica accompanying familial Mediterranean fever with a delayed diagnosis of 40 years. To the best of our knowledge, this is the first report of the association of amyloidosis cutis dyschromica and familial mediterranean fever.

Eosinophilic annular erythema in adults: report of two cases and review of the literature

Abstract We herein report two cases of eosinophilic annular erythema in adults, which is rare. In both patients, lesions developed rapidly in few days and were located mainly on the trunk, buttocks, and extremities. Diagnosis was histopathological, with typical features including acute dermal inflammatory infiltrate with abundant eosinophils. One of the patients recurred after treatment on three occasions and finally cured spontaneously. The second patient recurred once and was then successfully treated with topical clobetasol. Clinical and histopathological features of eosinophilic annular erythema in adults have rarely been reported. A review of the literature and discussion of relationship with Wells syndrome are also included.

Osteoma cutis: rare painful tumor in atypical location

Abstract Osteoma cutis or cutaneous ossification is a rare entity characterized by the formation of bone in the skin. We present an isolated primary osteoma cutis located on the palm, an atypical location.

Dowling-Degos disease: a therapeutic challenge: report of a family with no response to laser treatments

La enfermedad de Dowling-Degos (DDD), conocida también como 'anomalía reticulada y pigmentada de las flexuras' es una rara genodermatosis autosómica dominante. Se caracteriza por la aparición de máculas hiperpigmentadas de configuración reticulada; afectando principalmente los grandes pliegues como las axilas e ingles. Pudiendo, además, comprometer otros pliegues como cervicales, antecubitales, submamarios e interglúteos. Otras características asociadas son las lesiones tipo comedones y los pits palmo-plantares. Presentamos el caso de una familia con enfermedad de Dowling-Degos sin respuesta al tratamiento con laser Nd:YAG y CO2. Se realiza una revisión de la literatura de los tratamientos disponibles.

Dowling-Degos disease (DDD), also known as "reticulate pigmented anomaly of the flexures", is a rare autosomal dominant genodermatosis. DDD is characterized by an acquired reticular skin hyperpigmentation which begins in the axillae and groin. It later involves other body folds, including neck, inner aspects of the arms and thighs, inframammary, and intergluteal folds. Associated features include comedolike lesions on the neck or back, pitted facial or perioral scars, and epidermoid cysts. Herein we present a family (proband, mother, grandmother) with DDD that were treated with Q-switched Nd:YAG laser and CO2 laser without response. Treatment options are discussed and the available literature is reviewed.

Histiocytoid Sweet's syndrome presenting with annular erythematous plaques

Abstract Histiocytoid Sweet's Syndrome is a rare inflammatory disease described in 2005 as a variant of the classical Sweet's Syndrome (SS). Histopathologically, the dermal inflammatory infiltrate is composed mainly of mononuclear cells that have a histiocytic appearance and represent immature myeloid cells. We describe a case of Histiocytoid Sweet's Syndrome in an 18-year-old man. Although this patient had clinical manifestations compatible with SS, the cutaneous lesions consisted of erythematous annular plaques, which are not typical for this entity and have not been described in histiocytic form so far. The histiocytic subtype was confirmed by histopathological analysis that showed positivity for myeloperoxidase in multiple cells with histiocytic appearance.

Elastoma: clinical and histopathological aspects of a rare disease

Abstract Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease.

Primary localized cutaneous amyloidosis with lichen and poikiloderma-like lesions and an excellent response to systemic acitretin

Abstract: Primary localized cutaneous amyloidosis is a skin-limited amyloidosis that does not involve internal organs. It is clinically subclassified into 3 general categories and some rare variants. However, there is considerable overlap within the classification. Though there are a variety of therapeutic measures, the treatment is often unsatisfactory, particularly when the disease is severe and extensive. We describe a rare case of primary localized cutaneous amyloidosis with lichen and poikiloderma-like lesions that showed an excellent response to systemic acitretin.