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.

Nail psoriasis treated with pulsed dye laser

Abstract: Nail changes are present in about 50% of psoriasis patients and tend to be refractory to conventional treatments. Pulsed dye laser has emerged as an alternative therapy. Our aim is to evaluate the efficacy of pulsed dye laser in nail psoriasis and the impact of treatment on quality of life. Fourteen patients were treated in monthly sessions for three months. The outcome assesment was made by the Nail Psoriasis Severity Index (NAPSI). The median improvement in the scores of the overall NAPSI, nail bed NAPSI, and nail matrix NAPSI were 44.2% (P = 0.002), 50% (P = 0.033) and 65.1% (P = 0.024), respectively.

Prevalence and characterization of neonatal skin disorders in the first 72 h of life / Prevalência e caracterização das afecções cutâneas neonatais nas primeiras 72 horas de vida

Abstract Objective: To determine the prevalence of neonatal dermatological findings and analyze whether there is an association between these findings and neonatal and pregnancy characteristics and seasonality. Methods: Newborns from three maternity hospitals in a Brazilian capital city were randomly selected to undergo dermatological assessment by dermatologists. Results: 2938 neonates aged up to three days of life were randomly selected, of whom 309 were excluded due to Intensive Care Unit admission. Of the 2530 assessed neonates, 49.6% were Caucasians, 50.5% were males, 57.6% were born by vaginal delivery, and 92.5% of the mothers received prenatal care. Some dermatological finding was observed in 95.8% of neonates; of these, 88.6% had transient neonatal skin conditions, 42.6% had congenital birthmarks, 26.8% had some benign neonatal pustulosis, 2% had lesions secondary to trauma (including scratches), 0.5% had skin malformations, and 0.1% had an infectious disease. The most prevalent dermatological findings were: lanugo, which was observed in 38.9% of the newborns, sebaceous hyperplasia (35%), dermal melanocytosis (24.61%), skin desquamation (23.3%), erythema toxicum neonatorum (23%), salmon patch (20.4%), skin erythema (19%), genital hyperpigmentation (18.4%), eyelid edema (17.4%), milia (17.3%), genital hypertrophy (12%), and skin xerosis (10.9%). Conclusions: Dermatological findings are frequent during the first days of life and some of them characterize the newborn's skin. Mixed-race newborns and those whose mothers had some gestational risk factor had more dermatological findings. The gestational age, newborn's ethnicity, gender, Apgar at the first and fifth minutes of life, type of delivery, and seasonality influenced the presence of specific neonatal dermatological findings.

Resumo Objetivo: Verificar a prevalência dos achados dermatológicos nos primeiros dias de vida e analisar se há associação com características neonatais, gestacionais e sazonalidade. Métodos: Recém-nascidos de três maternidades de uma capital brasileira foram selecionados aleatoriamente para serem submetidos ao exame dermatológico feito por dermatologistas. Resultados: Foram selecionados aleatoriamente 2.839 neonatos com até 72 horas de vida, 309 foram excluídos por terem sido admitidos em Unidade de Tratamento Intensivo. Dos 2.530 neonatos examinados, 49,6% eram da etnia branca e 50,5% do sexo masculino. Foi observado algum achado dermatológico em 95,8% dos recém-nascidos; desses, 88,6% tinham lesões cutâneas transitórias neonatais, 42,6% marca de nascimento, 26,8% pustulose benigna neonatal, 2% lesões secundárias ao trauma, 0,5% malformação cutânea e 0,1% doença infecciosa. O achado dermatológico mais frequente foi o lanugo, observado em 38,9% dos neonatos, seguido por hiperplasia de glândulas sebáceas (35%), melanocitose dérmica (24,6%), descamação da pele (23,3%), eritema tóxico neonatal (23%), mancha salmão (20,4%), eritema da pele (19%), hiperpigmentação da genitália (18,4%), edema palpebral (17,4%), cistos de mília (17,3%), hipertrofia da genitália (12%) e xerose cutânea (10,9%). Conclusões: Os achados dermatológicos são frequentemente identificados nos primeiros dias de vida e muitos deles caracterizam a pele do recém-nascido. Os neonatos pardos e aqueles cujas mães apresentavam algum fator de risco gestacional tiveram mais achados dermatológicos. A idade gestacional, a etnia do neonato, o gênero, o índice de Ápgar, o tipo de parto e a sazonalidade influenciaram na presença de manifestações cutâneas específicas.

Skin symptoms as diagnostic clue for autoinflammatory diseases

ABSTRACT Autoinflammatory disorders are immune-mediated diseases with increased production of inflammatory cytokines and absence of detectable autoantibodies. They course with recurrent episodes of systemic inflammation and fever is the most common symptom. Cutaneous manifestations are prevalent and important to diagnosis and early treatment of the syndromes. The purpose of this review is to emphasize to dermatologists the skin symptoms present in these syndromes in order to provide their early diagnosis.

Syndrome in Question

AbstractWaardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.

Syndrome In Question

The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement. .

Livedoid vasculopathy associated with peripheral neuropathy: a report of two cases / Vasculopatia livedoide associada a neuropatia periferica: relato de dois casos

Livedoid vasculopathy (LV) is a chronic and recurrent disease consisting of livedo reticularis and symmetric ulcerations, primarily located on the lower extremities, which heal slowly and leave an atrophic white scar ("atrophie blanche"). Neurological involvment is rare and presumed to be secondary to the ischemia from vascular thrombosis of the vasa nervorum. Laboratory evaluation is needed to exclude secondary causes such as hyper-coagulable states, autoimmune disorders and neoplasms. We present two patients with a rare association of peripheral neuropathy and LV, thereby highlighting the importance of a multidisciplinary approach to reach the correct diagnosis. .

Vasculopatia livedoide é uma doença crônica e recorrente caracterizada por livedo reticular e úlceras simétricas nos membros inferiores, que cicatrizam e deixam uma cicatriz branca atrófica ("atrophie blanche"). Envolvimento neurológico é raro e está provavelmente associado a isquemia pela trombose dos vasa nervorum. Avaliação laboratorial é indicada com o intuito de excluir causas secundárias como estados de hipercoagulabilidade, doenças autoimunes e neoplasias. Apresentamos dois pacientes com uma rara associação de vasculopatia livedoide com neuropatia periférica, enfatizando a importância de uma abordagem multidisciplinar na busca do diagnóstico correto.

An atypical presentation of erythema elevatum diutinum

Erythema elevatum diutinum is a rare chronic leukocytoclastic vasculitis of unknown etiology. Lesions are usually asymptomatic, although burning and itchiness can occur. The typical clinical presentation is characterized by persistent, symmetrical,papules and nodules that may coalesce to form larger nodules or plaques. It may be associated with various pathologies and the diagnosis is based on clinical and histopathological findings. Treatment is based on the use of dapsone and sulfonamides, first-line therapies, and other options such as niacinamide, tetracycline,colchicine, chloroquine and corticosteroids. We describe the case of a 65-year-oldmale patient that presented a single lesion on the dorsum of the hand, an unusual clinical presentation.