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1.
Rev. bras. reumatol ; 56(1): 82-85, jan.-fev. 2016. graf
Article in English | LILACS | ID: lil-775208

ABSTRACT

Resumo Introdução Ictiose arlequim é uma doença cutânea congênita grave, autossômica e rara, caracterizada por ressecamento excessivo da pele e hiperqueratose. A associação de ictiose com esclerose sistêmica foi descrita em apenas três crianças. Ainda não foi descrito nenhum paciente com morfeia generalizada (MG) associada à ictiose arlequim. Relato de caso: Menina de quatro anos e seis meses de idade com diagnóstico de ictiose arlequim baseado em espessamento cutâneo difuso, com fissuras, descamação, eritema e sangramento da lesão desde as primeiras horas de vida. A paciente foi tratada com acitretina (1,0 mg/kg/dia) e creme emoliente. Aos três anos e nove meses, desenvolveu contraturas musculares com dor à movimentação e limitação nos cotovelos e joelhos e placas esclerodérmicas difusas no abdômen, nas costas, na região suprapúbica e nas extremidades inferiores. A biópsia de pele mostrou epiderme retificada e hiperqueratose leve, derme reticular com linfócitos, infiltrado mononuclear perivascular e perianexial e esclerose da derme reticular e glândula sudorípara rodeada por um tecido colágeno denso, compatível com esclerodermia. A paciente preencheu os critérios para o subtipo MG. Metotrexato e prednisona foram introduzidos. Aos quatro anos e três meses, apresentou novas lesões esclerodérmicas, associando-se azatioprina à terapêutica anterior, sem resposta após dois meses. Discussão: Um caso de ictiose arlequim associada à MG foi descrito. O tratamento dessas duas condições é um desafio e requer uma equipe multidisciplinar.


Abstract Introduction: Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described. Case report: A 4-years and 6-months girl, diagnosed with harlequin ichthyosis based on diffuse cutaneous thickening, scaling, erythema, ectropion and eclabium since the first hours of birth was described. She was treated with acitretin (1.0 mg/kg/day) and emollient cream. At 3 years and 9 months, she developed muscle contractures with pain on motion and limitation in elbows and knees, and diffuse sclerodermic plaques on the abdomen, back, suprapubic area and lower limbs. Skin biopsy showed rectified epidermis and mild hyperorthokeratosis, reticular dermis with perivascular and periadnexal infiltrates of lymphocytes and mononuclear cells, and reticular dermis and sweat gland sclerosis surrounded by a dense collagen tissue, compatible with scleroderma. The patient fulfilled the GM subtype criteria. Methotrexate and prednisone were introduced. At 4 years and 3 months, new scleroderma lesions occurred and azathioprine was associated with previous therapy, with no apparent changes after two months. Discussion: A case of harlequin ichthyosis associated with a GM was reported. The treatment of these two conditions is a challenge and requires a multidisciplinary team.


Subject(s)
Humans , Female , Child, Preschool , Scleroderma, Localized/complications , Ichthyosis, Lamellar/complications , Scleroderma, Localized/diagnosis , Scleroderma, Localized/drug therapy , Skin , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/drug therapy , Acitretin , Ectropion
2.
Med. infant ; 22(2): 116-119, Junio 2015. ilus, tab
Article in Spanish | LILACS | ID: biblio-905966

ABSTRACT

Objetivos: Describir las manifestaciones oftalmológicas de la ictiosis congénita. Materiales y Métodos: Estudio retrospectivo de 8 pacientes con ictiosis lamelar congénita atendidos en el servicio de oftalmología del Hospital de Pediatría Prof. Dr. Juan P. Garrahan. Se analizaron: edad, sexo, posicionamiento de los párpados, la presencia de lagoftalmos, alteraciones de la superficie ocular y tratamientos tópicos y quirúrgicos instaurados para la patología ocular. Resultados: Se estudiaron 16 ojos de 8 pacientes, 7 de sexo masculino y 1 de sexo femenino. Cinco pacientes presentaron ictiosis lamelar clásica y 2 eritrodermia congénita ictiosiforme (EIC). La edad media de los pacientes fue de 30,6 meses (r= 15 días y 108 meses). Los hallazgos oftalmológicos observados fueron: queratitis y lagoftalmos en el 50% de los pacientes, ectropión en el 37,5% y absceso corneal en ambos ojos de 1 paciente. Todos los pacientes fueron tratados de primera instancia con lubricantes, 2 se trataron con eritromicina tópica ante la presencia de secreción y sólo 1 paciente requirió tratamiento con colirio fortificado y colocación de membrana amniótica. Conclusión: la ictiosis congénita produce alteraciones en los párpados y en la superficie corneal con alto riesgo de secuelas y pérdida visual. Los controles periódicos son indispensables para poder prevenir las lesiones y sus complicaciones (AU)


Aim: To describe the ophthalmological manifestations of congenital ichthyosis. Material and Methods: A retrospective study of eight patients with congenital lamellar ichthyosis was conducted at the Department of Ophthalmology of the Pediatric Hospital Prof. Dr. Juan P. Garrahan. Age, sex, eyelid position, presence of lagophthalmos, ocular surface alterations, as well as topical and surgical eye treatment were analyzed. Results: 16 eyes of 8 patients, 7 male and 1 female, were studied. Five patients had classical lamellar ichthyosis and two had congenital ichthyosiform erythroderma (CIE). Mean age of the patients was 30.6 months (r, 15 days to 108 months). Ophthalmological findings were: keratitis and lagophthalmos in 50% of patients, ectropion in 37.5%, and corneal abscess in both eyes in one patient. All patients were initialy treated with artificial tears, two were treated with topical erythromycin because of secretion, and only one patient needed treatment with fortified eye drops and placement of amniotic membrane. Conclusion: Congenital ichthyosis causes disorders of the eyelids and corneal damage with a high risk of sequelae and vision loss. Periodic controls are necessary to prevent the lesions and their complications (AU)


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Corneal Edema , Ectropion , Ichthyosis, Lamellar/complications , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Keratitis , Retrospective Studies
4.
Rev. méd. hondur ; 79(4): 199-202, oct.-dic. 2011. ilus
Article in Spanish | LILACS | ID: lil-642291

ABSTRACT

Introducción. Las genodermatosis ictiosiformes generalizadas forman un grupo clínico y etiológicamente heterogéneo de trastornos mendelianos de la cornificación caracterizados por hiperqueratosis y descamación de la piel. La ictiosis arlequín es la entidad más rara y severa de estas, que se presenta con un patrón hereditario autosómico recesivo. En la mayoría de los casos el pronóstico es fatal durante el primer año de vida. Presentación del caso. Recién nacido masculino pre término de 306/7 semanas gestacionales, primogénito de padres no consanguíneos, sin historia familiar de trastornos de la piel, con un cuadro clínico característico de ictiosis arlequín quien falleció a los cinco días de vida. No hubo tratamiento con retinoides y no se le realizó autopsia. Conclusión. Se presenta el primer caso publicado en Honduras de ictiosis arlequín con el objeto de profundizar en el conocimiento de esta patología y presentar algunas recomendaciones a la comunidad médica del país. La consejería genética a los padres es un factor importante a considerar en el abordaje de este problema...


Subject(s)
Humans , Male , Infant, Newborn , Congenital Abnormalities/diagnosis , Ichthyosis, Lamellar/complications , Ichthyosis/diagnosis , Congenital Abnormalities/genetics , Keratinocytes/pathology
5.
ACM arq. catarin. med ; 37(4): 53-56, set.-dez. 2008. ilus
Article in Portuguese | LILACS | ID: lil-512810

ABSTRACT

Feto arlequim é uma variante grave da ictiose congenita, uma herança autossômica recessiva que causa alteração da queratinização da pele, que incide em cerca de 1/100.000 nascimentos e está geralmente associada a consaguinidade dos pais. Manifesta-se ao nascimento como uma pele espessada que evolui para rachaduras generalizadas, comprometendo as suas funções básicas e predispondo a infecções. Relata-se o caso de um RN do sexo feminino, cujos pais não referem nenhum grau de parentesco. A mesma foi mantida em isolamento em incubadora, mas feleceu no nono dia de vida por insuficiência respiratória restritiva.


Harlequin fetus is a variant of severe congenital ichthyosis, an autosomal recessive heredity make change in the keratinization of skin, which appear around 1/100.000 births and is usually associated with consaguineus parents. At birth it seems like a thicken skin that develops into widespread cracks, affecting its basics functions and predisposes to infections. We report the case of a female newborn, whose parents don’t mention any degree of kinship. The baby stood on isolation in incubator, but died at ninth day of life from restrictive respiratory failure.


Subject(s)
Humans , Female , Infant, Newborn , Consanguinity , Ichthyosis, Lamellar , Infant, Premature , Ectropion/pathology , Ichthyosis, Lamellar/complications , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/etiology , Ichthyosis, Lamellar/genetics , Ichthyosis, Lamellar/mortality , Ichthyosis, Lamellar/pathology , Ichthyosis, Lamellar/therapy , Infant, Premature/growth & development
7.
Indian J Dermatol Venereol Leprol ; 2007 Jan-Feb; 73(1): 36-9
Article in English | IMSEAR | ID: sea-52577

ABSTRACT

A four-year-old girl was brought to the dermatology outpatient department with scaling all over the body since birth. She had history of episodic vomiting and abdominal distension. A dermatological diagnosis of lamellar ichthyosis was made. Abdominal examination revealed a nontender hepatomegaly, fatty liver on ultrasonography and deranged liver function tests. Peripheral blood smear showed lipid vacuoles in the granulocytes consistent with Jordans' anomaly. Similar lipid vacuoles were seen in the basal layer in skin biopsy. An inflammatory infiltrate, moderate fibrosis in the portal tract and diffuse severe fatty change in hepatocytes were seen in liver biopsy. The patient was diagnosed as a case of Dorfman-Chanarin syndrome.


Subject(s)
Child, Preschool , Fatty Liver/complications , Female , Fibrosis , Granulocytes/metabolism , Hepatocytes/pathology , Hepatomegaly/complications , Humans , Ichthyosis, Lamellar/complications , Lipid Metabolism, Inborn Errors/complications , Liver/blood supply , Liver Diseases/complications , Portal System/pathology , Skin/metabolism , Syndrome , Vacuoles/metabolism
8.
Arq. bras. oftalmol ; 58(6): 486-8, dez. 1995. ilus
Article in Portuguese | LILACS | ID: lil-169898

ABSTRACT

A ictiose lamelar é uma doença caracterizada por hiperceratäo da pele, ectrópio palpebral, conjuntivite e ceratite. Apresentamos um caso de úlcera corneana por exposiçäo, com infecçäo bacteriana e micótica secundária, em um paciente portador desta patologia. Säo descritas alternativas para terapêutica ocular bem como para correçäo do ectrópio


Subject(s)
Humans , Male , Adult , Ectropion/physiopathology , Ichthyosis, Lamellar/complications , Bacterial Infections/diagnosis , Keratitis/physiopathology , Corneal Ulcer/physiopathology , Ectropion/therapy , Ichthyosis, Lamellar/therapy
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