RESUMO
Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive disorder of impaired triacylglycerol catabolism leading to cytoplasmic deposition of triglycerides in various cell types. We describe the case of an 8-month-old boy with cataracts, strabismus, motor delays, and an ichthyosiform rash since birth. Genetic testing revealed a pathogenic variant of the ABHD5 gene, suggestive of CDS, and further workup demonstrated hepatic steatosis and myopathy. His ichthyosis improved with initiation of a diet low in very long-chain fatty acids and medium-chain fatty acid supplementation.
Assuntos
Catarata , Eritrodermia Ictiosiforme Congênita , Ictiose Lamelar , Ictiose , Erros Inatos do Metabolismo Lipídico , Doenças Musculares , Masculino , Humanos , Lactente , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/genética , Ictiose Lamelar/diagnóstico , Ictiose Lamelar/genética , Ictiose/diagnóstico , Ictiose/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/patologia , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/patologia , Catarata/diagnóstico , 1-Acilglicerol-3-Fosfato O-Aciltransferase/genéticaRESUMO
This nonrandomized clinical trial assesses treatment of patients diagnosed with Grover disease with blue light phytotherapy for several weeks.
Assuntos
Ictiose , Fototerapia , Humanos , Luz , Acantólise/terapiaRESUMO
Objective@#To present a rare case of Netherton Syndrome (NS) in a Filipino child. @*Case@#This is a case of an 11-year-old girl with elevated immunoglobulin E, trichorrhexis nodosa, and ichthyosis linearis circumflexa. She had dry skin with fine scaling at birth with recurrent pruritic, erythematous papules coalescing to plaques mainly on the face and extensors. The skin dryness turned to generalized redness with fine scaling, and the skin started getting tight. She could no longer completely extend both knees, but she was still able to walk. She also started having difficulty closing both eyes. She developed migratory serpiginous erythematous plaques with peripheral double-edged scaling. At six years old, she developed ulcers in the scalp, trunk, and extremities, which resulted in admission to our institution. She was managed for multiple skin infections, pneumonia, sepsis, seizure, severe malnutrition, joint contracture, atopy, and bilateral cicatricial ectropion.@*Conclusion@#Management of NS remains challenging. Common management options include emollients, topical corticosteroids, calcineurin, and protease inhibitor, and phototherapy while newer ones that need further validation include intravenous immunoglobulins and biologics such as infliximab. However, until specific recommendations are made, overall management for NS remains challenging. Regular multidisciplinary monitoring of the manifestations of NS is central to its management.
Assuntos
Síndrome de Netherton , IctioseRESUMO
For disorders of keratinization, topical treatment alone may be ineffective, and systemic retinoid therapy may be indicated. Treatment with systemic retinoids (acitretin, isotretinoin and alitretinoin) has been shown to be effective in reducing disease severity; however, potentially rare adverse effects (AEs) may occur, including hyperostotic skeletal changes. The true prevalence of this AE in adult patients administered life-long therapy is unknown. We identified 3 of 127 (2.4%) patients (with ichthyosis or Darier disease) who had been prescribed isotretinoin with or without acitretin, and who developed radiological signs and clinical symptoms of hyperostosis and ligamentous ossification. This clinical review highlights the significance of retinoid-induced skeletal hyperostosis in patients prescribed long-term, high-dose retinoid therapy for disorders of keratinization. Patients commencing systemic retinoid therapy, particularly women of childbearing age, should be counselled about this important and potentially serious AE, especially if long-term treatment is indicated.
Assuntos
Hiperostose , Ictiose , Adulto , Humanos , Feminino , Acitretina/efeitos adversos , Isotretinoína/uso terapêutico , Alitretinoína/efeitos adversos , Hiperostose/induzido quimicamente , Hiperostose/tratamento farmacológico , Ictiose/tratamento farmacológicoRESUMO
Epidermal omega-O-acylceramides (ω-O-acylCers) are essential components of a competent skin barrier. These unusual sphingolipids with ultralong N-acyl chains contain linoleic acid esterified to the terminal hydroxyl of the N-acyl, the formation of which requires the transacylase activity of patatin-like phospholipase domain containing 1 (PNPLA1). In ichthyosis with dysfunctional PNPLA1, ω-O-acylCer levels are significantly decreased, and ω-hydroxylated Cers (ω-OHCers) accumulate. Here, we explore the role of the linoleate moiety in ω-O-acylCers in the assembly of the skin lipid barrier. Ultrastructural studies of skin samples from neonatal Pnpla1+/+ and Pnpla1-/- mice showed that the linoleate moiety in ω-O-acylCers is essential for lamellar pairing in lamellar bodies, as well as for stratum corneum lipid assembly into the long periodicity lamellar phase. To further study the molecular details of ω-O-acylCer deficiency on skin barrier lipid assembly, we built in vitro lipid models composed of major stratum corneum lipid subclasses containing either ω-O-acylCer (healthy skin model), ω-OHCer (Pnpla1-/- model), or combination of the two. X-ray diffraction, infrared spectroscopy, and permeability studies indicated that ω-OHCers could not substitute for ω-O-acylCers, although in favorable conditions, they form a medium lamellar phase with a 10.8 nm-repeat distance and permeability barrier properties similar to long periodicity lamellar phase. In the absence of ω-O-acylCers, skin lipids were prone to separation into two phases with diminished barrier properties. The models combining ω-OHCers with ω-O-acylCers indicated that accumulation of ω-OHCers does not prevent ω-O-acylCer-driven lamellar stacking. These data suggest that ω-O-acylCer supplementation may be a viable therapeutic option in patients with PNPLA1 deficiency.
Assuntos
Ceramidas , Pele , Aciltransferases , Animais , Ceramidas/química , Epiderme , Ictiose , Ácido Linoleico , Lipase , CamundongosRESUMO
BACKGROUND: Short stature has been reported in congenital ichthyoses (CI), but few data exist on patients' nutritional status. OBJECTIVE: To describe the nutritional status at the first evaluation of children and young adults with CI. METHODS: Prospective observational study of patients assessed at a multidisciplinary clinic. Clinical variables and ichthyosis severity were collected. Anthropometric assessment was made by measuring weight and height, and nutritional status was classified based on the World Health Organization definitions for malnutrition. Analytical assessment included markers of nutritional status, fat-soluble vitamins, and micronutrients. RESULTS: We included 50 patients with a median age of 5 years (IQR, 1.6-10.3). Undernutrition was found in 32% of patients, and 75% of the undernourished children presented growth impairment. Younger children and those with severe ichthyoses were the most affected. Micronutrient deficiencies were found in 60% of patients. Deficiencies of selenium (34%), iron (28%), vitamin D (22%), and zinc (4%) were the most frequent findings. LIMITATIONS: Our small sample includes a heterogeneous group of ichthyoses. CONCLUSION: Children with CI appear to be at risk of undernutrition, especially at younger ages. Nutritional deficiencies are common and should be monitored. Growth failure in children with ichthyosis could be caused by undernutrition and aggravated by nutritional deficiencies.
Assuntos
Transtornos da Nutrição Infantil/etiologia , Deficiências do Desenvolvimento/etiologia , Ictiose/complicações , Desnutrição/diagnóstico , Desnutrição/etiologia , Vigilância da População , Adolescente , Criança , Desenvolvimento Infantil , Pré-Escolar , Feminino , Humanos , Lactente , Ferro/sangue , Deficiências de Ferro , Masculino , Micronutrientes/sangue , Avaliação Nutricional , Estado Nutricional , Selênio/sangue , Selênio/deficiência , Deficiência de Vitamina D/sangue , Adulto Jovem , Zinco/sangue , Zinco/deficiênciaRESUMO
Grover disease (GD) is a benign eruption that causes a papulovesicular rash on the trunk and proximal extremities. It often resolves spontaneously but can follow a more chronic and fluctuating course that may last several years. Although the etiology remains unknown, several associated triggers have been identified including heat and sweating, cool and dry air, renal failure, malignancy, and the initiation of several drugs. Since the disease tends to resolve on its own, management is aimed at disease prevention and symptomatic relief. First-line therapy includes topical steroids and vitamin D analogues with adjuvant antihistamines. In more severe cases that are refractory to less aggressive therapy, systemic corticosteroids, retinoids, and phototherapy may lead to successful resolution. Novel therapies are few and have little evidence but involve innovative use of light therapy and immune modulators. Herein, we review the literature and new trends of GD with a focus on established and novel treatments.
Assuntos
Acantólise/classificação , Acantólise/tratamento farmacológico , Ictiose/classificação , Ictiose/tratamento farmacológico , Acantólise/diagnóstico , Acantólise/etiologia , Administração Cutânea , Administração Oral , Doença de Darier/diagnóstico , Dermoscopia , Diagnóstico Diferencial , Quimioterapia Combinada/métodos , Emolientes/administração & dosagem , Glucocorticoides/administração & dosagem , Antagonistas dos Receptores Histamínicos/administração & dosagem , Humanos , Hiperpigmentação/diagnóstico , Ictiose/diagnóstico , Ictiose/etiologia , Pênfigo/diagnóstico , Pênfigo Familiar Benigno/diagnóstico , Fotoquimioterapia/métodos , Retinoides/administração & dosagem , Pele/diagnóstico por imagem , Pele/efeitos dos fármacos , Pele/patologia , Dermatopatias Genéticas/diagnóstico , Dermatopatias Papuloescamosas/diagnóstico , Vitamina D/administração & dosagemAssuntos
Alopecia/radioterapia , Doenças Genéticas Ligadas ao Cromossomo X/radioterapia , Ictiose/radioterapia , Lasers Semicondutores/uso terapêutico , Terapia com Luz de Baixa Intensidade/instrumentação , Dermatopatias Genéticas/radioterapia , Alopecia/etiologia , Biópsia , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Humanos , Ictiose/complicações , Masculino , Couro Cabeludo/patologia , Couro Cabeludo/efeitos da radiação , Pele/patologia , Pele/efeitos da radiação , Dermatopatias Genéticas/complicações , Resultado do Tratamento , Adulto JovemRESUMO
Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Data, and critical analysis of existing data, are lacking, so the etiologies, pathogeneses, disease associations, and treatments of these clinical entities are poorly understood. The present article aims to fill this knowledge gap by reviewing literature in the PubMed, EMBASE, and CINAHL databases and providing a comprehensive, analytical summary of the clinical characteristics and pathophysiology of keratosis pilaris and its subtypes through the lens of disease associations, genetics, and pharmacologic etiologies. Histopathologic, genomic, and epidemiologic evidence points to keratosis pilaris as a primary disorder of the pilosebaceous unit as a result of inherited mutations or acquired disruptions in various biomolecular pathways. Recent data highlight aberrant Ras signaling as an important contributor to the pathophysiology of keratosis pilaris and its subtypes. We also evaluate data on treatments for keratosis pilaris and its subtypes, including topical, systemic, and energy-based therapies. The effectiveness of various types of lasers in treating keratosis pilaris and its subtypes deserves wider recognition.
Assuntos
Anormalidades Múltiplas/terapia , Doença de Darier/terapia , Dermabrasão/métodos , Fármacos Dermatológicos/uso terapêutico , Sobrancelhas/anormalidades , Fototerapia/métodos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/patologia , Administração Cutânea , Doença de Darier/diagnóstico , Doença de Darier/etiologia , Doença de Darier/patologia , Dermatite Atópica/complicações , Diagnóstico Diferencial , Sobrancelhas/patologia , Proteínas Filagrinas , Humanos , Ictiose/complicações , Ictiose/genética , Proteínas de Filamentos Intermediários/genética , Mutação , Transdução de Sinais/genética , Pele/patologia , Resultado do Tratamento , Proteínas ras/genética , Proteínas ras/metabolismoRESUMO
NISCH syndrome is a rare autosomal recessive disease. It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and neonatal sclerosing cholangitis. It is caused by mutations in the CLDN1 gene encoding the claudin-1 protein, which is located at tight junctions. Fifteen cases have been reported to date and three different mutations have been identified. We report on the case of a 2-year-old boy from a consanguineous Moroccan family, presenting with NISCH syndrome and carrying the so-called Moroccan homozygous mutation (c.200-201delTT). The patient presented with the characteristic symptoms of the syndrome and a favorable progression with normalization of hepatic analyses under symptomatic treatment (vitamin supplementation and ursodeoxycholic acid). The currently limited availability of clinical and therapeutic data does not allow accurate prediction of the course of the disease and short- and long-term prognosis. Moreover, substantial interindividual variability has been reported. Description of new cases will provide new insights into the understanding and the overall management of this syndrome, the course of which remains elusive.
Assuntos
Alopecia/complicações , Colangite Esclerosante/complicações , Colestase/etiologia , Claudina-1/deficiência , Ictiose/complicações , Transtornos Leucocíticos/complicações , Alopecia/genética , Colangite Esclerosante/genética , Claudina-1/genética , Humanos , Ictiose/genética , Recém-Nascido , Transtornos Leucocíticos/genética , Masculino , LinhagemRESUMO
Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features. The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2. Despite underlying genetic origin, most of the health professionals solely rely on phenotypic expression of these disorders that leads to improper management of patients, hence making these patients living an orphanage life. After dermal features, association of other systems such as nervous system, skeletal system, hair abnormalities or liver problems may sometimes give clues for diagnosis but still leaving place for molecular screening for efficient diagnosis. In this paper, we have presented a review of ichthyosis syndrome with prominent hair abnormalities, with special emphasis on their updated genetic consequences and disease management. Additionally, we aim to update health professionals about the practice of molecular screening in ichthyosis syndromes for appropriate diagnosis and treatment.
Assuntos
Doenças do Cabelo/terapia , Cabelo/anormalidades , Ictiose/terapia , Fotofobia/terapia , Doenças Raras/terapia , Consanguinidade , Fármacos Dermatológicos/uso terapêutico , Exoma/genética , Testes Genéticos/métodos , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/etiologia , Doenças do Cabelo/mortalidade , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Ictiose/diagnóstico , Ictiose/etiologia , Ictiose/mortalidade , Mutação , Fenótipo , Fotofobia/diagnóstico , Fotofobia/etiologia , Fotofobia/mortalidade , Fototerapia/métodos , Doenças Raras/diagnóstico , Doenças Raras/etiologia , Doenças Raras/mortalidade , SíndromeRESUMO
Severe vitamin D deficiency and rickets are highly prevalent among children with congenital ichthyosis. We report an incidental observation of a dramatic and excellent clinical response with regard to skin scaling and stiffness in children with congenital ichthyosis after short-term high-dose vitamin D supplementation that has not been previously described. Seven children with congenital ichthyosis (5 with autosomal recessive congenital ichthyosis; 2 with epidermolytic ichthyosis) and severe vitamin D deficiency (and/or rickets) were given 60,000 IU of oral cholecalciferol daily for 10 days under supervision. All children were subsequently put on recommended daily allowance of 400 to 600 IU of cholecalciferol. The main outcome measures observed and studied were reduction in skin scaling and stiffness of the extremities. All cases had severe vitamin D deficiency (serum 25-hydroxyvitamin D < 4 ng/mL) and secondary hyperparathyroidism. Six patients had clinical and radiologic evidence of rickets. Significant improvement in scaling was noticeable by day 5, showing further improvement by day 10, in 6 of the 7 cases. At 1 month, the skin had become near normal in all the cases of autosomal recessive congenital ichthyosis. Remarkable reduction in stiffness was also observed in all children. Supplementation with high-dose vitamin D followed by recommended daily allowance appears to be an effective form of therapy in the management of congenital ichthyosis with vitamin D deficiency.
Assuntos
Ictiose/tratamento farmacológico , Deficiência de Vitamina D/tratamento farmacológico , Vitamina D/análogos & derivados , Criança , Pré-Escolar , Feminino , Humanos , Ictiose/complicações , Lactente , Masculino , Resultado do Tratamento , Vitamina D/administração & dosagem , Vitamina D/uso terapêutico , Deficiência de Vitamina D/complicaçõesAssuntos
Dermatopatias/tratamento farmacológico , Dermatopatias/metabolismo , Deficiência de Vitamina D/complicações , Vitamina D/metabolismo , Vitamina D/uso terapêutico , Calcitriol/metabolismo , Calcitriol/uso terapêutico , Dermatite Atópica/metabolismo , Suplementos Nutricionais , Fibrose , Humanos , Ictiose/metabolismo , Psoríase/tratamento farmacológico , Pele/patologia , Dermatopatias/etiologia , Neoplasias Cutâneas/metabolismo , Fenômenos Fisiológicos da Pele , Vitamina D/análogos & derivados , Vitiligo/tratamento farmacológico , Vitiligo/metabolismoRESUMO
BACKGROUND: The CHInese Medicine NeuroAiD Efficacy on Stroke recovery (CHIMES) study was an international randomized double-blind placebo-controlled trial of MLC601 (NeuroAiD) in subjects with cerebral infarction of intermediate severity within 72 h. CHIMES-E (Extension) aimed at evaluating the effects of the initial 3-month treatment with MLC601 on long-term outcome for up to 2 years. METHODS: All subjects randomized in CHIMES were eligible for CHIMES-E. Inclusion criteria for CHIMES were age ≥18, baseline National Institute of Health Stroke Scale of 6-14, and pre-stroke modified Rankin Scale (mRS) ≤1. Initial CHIMES treatment allocation blinding was maintained, although no further study treatment was provided in CHIMES-E. Subjects received standard care and rehabilitation as prescribed by the treating physician. mRS, Barthel Index (BI), and occurrence of medical events were ascertained at months 6, 12, 18, and 24. The primary outcome was mRS at 24 months. Secondary outcomes were mRS and BI at other time points. RESULTS: CHIMES-E included 880 subjects (mean age 61.8 ± 11.3; 36% women). Adjusted OR for mRS ordinal analysis was 1.08 (95% CI 0.85-1.37, p = 0.543) and mRS dichotomy ≤1 was 1.29 (95% CI 0.96-1.74, p = 0.093) at 24 months. However, the treatment effect was significantly in favor of MLC601 for mRS dichotomy ≤1 at 6 months (OR 1.49, 95% CI 1.11-2.01, p = 0.008), 12 months (OR 1.41, 95% CI 1.05-1.90, p = 0.023), and 18 months (OR 1.36, 95% CI 1.01-1.83, p = 0.045), and for BI dichotomy ≥95 at 6 months (OR 1.55, 95% CI 1.14-2.10, p = 0.005) but not at other time points. Subgroup analyses showed no treatment heterogeneity. Rates of death and occurrence of vascular and other medical events were similar between groups. CONCLUSIONS: While the benefits of a 3-month treatment with MLC601 did not reach statistical significance for the primary endpoint at 2 years, the odds of functional independence defined as mRS ≤1 was significantly increased at 6 months and persisted up to 18 months after a stroke.
Assuntos
Isquemia Encefálica/tratamento farmacológico , Medicamentos de Ervas Chinesas/uso terapêutico , Fármacos Neuroprotetores/uso terapêutico , Recuperação de Função Fisiológica/efeitos dos fármacos , Acidente Vascular Cerebral/tratamento farmacológico , Adulto , Idoso , Coloboma/tratamento farmacológico , Método Duplo-Cego , Feminino , Perda Auditiva Condutiva/tratamento farmacológico , Cardiopatias Congênitas/tratamento farmacológico , Humanos , Ictiose/tratamento farmacológico , Deficiência Intelectual/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Síndromes Neurocutâneas/tratamento farmacológico , Acidente Vascular Cerebral/complicações , Tempo , Resultado do TratamentoRESUMO
Oral retinoids are being increasingly used to treat ichthyotic disorders in children. We report on two children with ichthyotic disorders who developed unusual manifestations after they were started on oral retinoids. The first case is a 10-year-old girl with nonbullous ichthyosiform erythroderma and the second is a 2-year-old girl with lamellar ichthyosis. The child with ichthyosiform erythroderma developed features of rickets within months of initiation of systemic retinoids. Her baseline examination before initiation of oral retinoids was normal. The second patient with lamellar ichthyosis was found to have low vitamin D levels after 6 months of retinoid therapy, and prompt supplementation reversed the levels in 2 months. These cases are being reported to bring attention to the probable need for initiation of vitamin D supplementation with systemic retinoid therapy in ichthyotic disorders in children.
Assuntos
Acitretina/efeitos adversos , Ictiose/tratamento farmacológico , Isotretinoína/efeitos adversos , Ceratolíticos/efeitos adversos , Deficiência de Vitamina D/induzido quimicamente , Acitretina/uso terapêutico , Administração Oral , Biópsia , Osso e Ossos/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Humanos , Ictiose/patologia , Isotretinoína/uso terapêutico , Ceratolíticos/uso terapêutico , Radiografia , Pele/patologia , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/diagnóstico por imagemRESUMO
RESUMO Artigo de revisão que trata da importância do tratamento da xerose e de fissuras nos pés de pacientes com diabetes mellitus. Essas fissuras se não tratadas, constituem porta de entrada para infecções e podem resultar na formação de úlceras, que são a causa mais comum das amputações de extremidades de causa não traumática. Por isso a prevenção de fissuras nos pés de diabéticos é fundamental, já que a cicatrização é um processo complicado nesses pacientes, devido à hiperglicemia. Aborda sobre produtos usados no tratamento de xerose e fissuras e o crescente interesse de pesquisadores e do mercado no uso de fitoterápicos com esse objetivo.
ABSTRACT A review article that deals with the importance of treating xerosis and fissures in the feet of patients with diabetes mellitus. These wounds can be a gateway to infections and may result in the formation of ulcers, if untreated. The ulcers are the most common cause for the amputations of extremities at non-traumatic cases. For this reason, the prevention of fissures in the feet of diabetic patientsis basal, since healing is a complicated process in this patients because of their hyperglycemia symptom. This article addresses the products employed in the therapy of xerosis and fissures, and also investigates the increasing interest of researchers and market in the application of phytotherapic medicines for this purpose.
Assuntos
Plantas Medicinais/metabolismo , Cicatrização , Xerostomia/diagnóstico por imagem , Diabetes Mellitus/patologia , Fissura , Ictiose/fisiopatologia , TerapêuticaRESUMO
Kava dermopathy is a common cutaneous effect of regular or heavy use of Kava, a psychoactive beverage consumed widely throughout the Pacific. In Fiji in 2012, over 1000 study participants underwent full skin examination, and kava dermopathy was a common cutaneous finding. The clinical manifestations of kava dermopathy share similarities with the spectrum of autosomal recessive congenital ichthyoses, predominantly lamellar ichthyosis. The pathogenesis of Kava dermopathy may be associated with a functional defect in one or more cytochrome P450 enzymes implicated in epidermal integrity, thus mimicking the genetic defect as seen in lamellar ichthyosis type 3.
Assuntos
Ictiose/etiologia , Kava , Bebidas , Sistema Enzimático do Citocromo P-450/genética , Epiderme/patologia , Fiji , Humanos , Ictiose/genética , Kava/química , Lactonas/farmacocinética , FitoterapiaAssuntos
Humanos , Homeopatia , Neuritos , Imunidade , Terapêutica , Ictiose , Síndrome da Imunodeficiência AdquiridaRESUMO
Leprosy is a chronic granulomatous infection caused by Mycobacterium leprae. Predominantly involving skin and nerves and having classic clinical description, the diagnosis may be clear-cut in majority of patients but may be challenging in others. Non-pitting edema, ichthyosis and arthritis are uncommon in leprosy and very rare in tuberculoid type where the diagnosis may be challenging unlike relatively clear-cut clinical picture in lepromatous type. Musculoskeletal manifestation is seen in 1-5% of cases and usually associated with reactional states where again the diagnosis sometimes becomes evident. High index of suspicion is therefore recommended in patients with unexplained systemic illness especially in endemic areas. Herein we report a young male with non pitting edema and symmetric peripheral arthritis involving all four limbs, and ichthyosis as presenting manifestation of borderline leprosy where the neuro-cutaneous manifestation developed two months after the said presenting features and in absence of a reactional state.