Collodion baby-congenital ichthyosis: clinical review

Collodion baby is a rare form of congenital ichthyosis in which the entire body is covered by a parchment-like membrane. These neonates are at the risk of dehydration, sepsis, electrolyte disturbances, and temperature instability. It is inherited in autosomal recessive manner. We report a case of Collodion baby, born of a consanguineous marriage. Here, we present a short review of this condition and the various methods available for the prenatal diagnosis. A literature search was done using PubMed, Medline, and Google Scholar databases using the mesh terms 'Ichthyosis', 'collodion baby', 'collodion membrane', 'Congenital ichthyosiform erythroderma', and 'Lamellar ichthyosis'.

Eritrodermia ictiosiforme congénita no ampollosa asociada a pénfigo vegetante. Presentación de caso / No bullous congenital ichthyosiform erythroderma associated to vegetating pemphigus. Case presentation

Fundamento: La eritrodermia ictiosiforme congénita no ampollosa es una genodermatosis que está presente desde el nacimiento y el pénfigo vegetante es una enfermedad ampollar que aparece en edades tempranas de la vida, las manifestaciones clínicas de estas entidades son diferentes, ambas son infrecuentes cuando se presentan aisladamente, mucho más cuando aparecen en un mismo paciente. Objetivo: Describir el caso de un paciente con eritrodermia ictiosiforme congénita no ampollosa y pénfigo vegetante por ser una situación clínica rara por su incidencia. Presentación de caso: Paciente de 28 años, con antecedentes de padecer de eritrodermia ictiosiforme congénita no ampollosa, que comenzó a desarrollar ampollas y al romperse dejaban erosiones que más tarde dieron lugar a vegetaciones hipertróficas y papilomatosas. Para arribar al diagnóstico se tuvo en cuenta el criterio clínico y la histopatología. Conclusiones: La eritrodermia ictiosiforme congénita no ampollosa y el pénfigo vegetante son entidades infrecuentes en la práctica médica, mucho más cuando se presenten ambas en un mismo paciente.

Background: The non-bullous congenital ichthyosiform erythroderma is a genodermatosis that is present from the birth and the vegetating pemphigus is a bullous disease that occurs at early ages of life, the clinical manifestations of these entities are different, both are uncommon when they are presented in isolation, much more when they appear in a patient Objective: To describe the case of a patient with a non-bullous congenital ichthyosiform erythroderma and vegetating pemphigus a strange clinical situation for their incidence. Case presentation: Patient of 28 years, with antecedents of suffering of non-bullous congenital ichthyosiform erythroderma that began to develop blisters and when breaking they left erosions that later gave place to hypertrophic and papillomatous vegetation. To arrive to the diagnosis was kept in mind the clinical approach and the histopathology. Conclusions: The non-bullous congenital ichthyosiform erythroderma and the vegetating pemphigus are uncommon entities in the medical practice, much more when both are presented in a patient.

Ictiosis congénita tipo laminar: reporte de un caso / Congenital lamellar ichthyosis: a case report

INTRODUCCIÓN: La ictiosis tipo laminar es una enfermedad dermatológica infrecuente perteneciente al grupo de las llamadas genodermatosis. Es una forma de ictiosis congénita que es evidente desde el nacimiento. PRESENTACIÓN DEL CASO: Recién nacido por cesárea, sexo masculino, de 36 semanas de gestación, adecuado para la edad gestacional y con APGAR 8. Antecedentes familiares: padres no consanguíneos y hermano con ictiosis tipo laminar. Luego de nacer es hospitalizado en la Unidad de Neonatología del Hospital de San Fernando, por presentar piel de aspecto rojo brillante, engrosada en cara y parte anterior de tronco con algunas fisuras en zona torácica, sin presencia de láminas de queratina, por lo que estableció el diagnóstico clínico de ictiosis tipo laminar. Se manejó con precauciones de contacto, analgesia, lubricación de la piel y suplementación con ácido retinoico. Evolucionó con descamación y aumento delas fisuras, las que posteriormente empezaron a disminuir quedando una membrana residual y con una adecuada hidratación de piel. Durante su estadía presentó alzas febriles intermitentes por lo que se realizó un hemocultivo que fue positivo a Staphylococcus aureus y cultivos de axilas, ombligo y zona inguinal que resultaron positivos para Enterococcus y Staphylococcus aureus, iniciando tratamiento con Vancomicina. Luego de 7 días de tratamiento, evolucionó favorablemente con disminución de sus lesiones dermatológicas por lo que se dio alta médica. DISCUSIÓN: El diagnóstico oportuno en base al cuadro clínico y manejo adecuado de este paciente ha permitido una adecuada evolución en ausencia de complicaciones.

INTRODUCTION: Lamellar Ichthyosis is a rare skin diseases belonging to the Group of the so-called genodermatoses. It is a form of congenital ichthyosis evident at birth. CASE REPORT: Male neonate, born at 36 weeks of gestation via cesarian section, appropriate for gestational age and Apgar Score 8. Nonconsanguineous parents. Affected brother with Ichthyosis lamellar. Is hospitalized in the Neonatal Intermediary Care Unit of the Hospital of San Fernando due to presence of Glossy red skin, thicker in face and fissures in the chest without collodion membrane. The patient was diagnosed with Lamellar Ichthyosis. Treatment was initiated with insolations precautions, pain relievers and lubrication of the skin, as well as retinoic acid supplementation. Progressed with cracked skin and scaling that subsequently improves leaving a residual membrane and an adequate skin hydration. During his stay, he also presented intermittent fever. Blood culture was positive for Staphylococcus aureus. Skin cultures of Armpits, navel and groin were positive for Enterococcusand Staphylococcus aureus, so treatment with vancomycin was started. After 7 days of antibiotic treatment and a favourable evolution with evident improvement of his skin lesions, the patient was discharged from hospital for outpatient management. DISCUSSION: Early diagnosis based on clinical presentation and an appropriate management of this patient, allowed an adequate evolution in the absence of complications.

A Case of Congenital Ichthyosiform Erythroderma

No abstract available.

A Sporadic Case of Ichthyosis Bullosa of Siemens

Few cases of ichthyosis bullosa of Siemens(IBS) have been reported since 1939, as a distinct entity from bullous congenital ichthyosiform erythroderma(BCIE). IBS can be differentiated from BCIE by the absence of congenital erythroderma and a different distribution of involved skin area. It's characteristic features include blistering, superficial erosion or moulting of the outer skin. Histological features are tonofilaments aggregation confined to the granular and upper spinous layer of the epidermis. However, in BCIE these findings are present in the whole suprabasal compartment. The original reports of Siemens and cases from other authors showed an autosomal dominant inheritance. Our patient developed IBS sporadically without a familial background.

Electron Microscopic and Immunohistochemical Comparative Studies of Bullous Congenital Ichthyosiform Erythroderma and Epidermal Nevus Histologically Showing Epidermolytic Hyperkeratosis / 대한피부과학회지

BACKGROUND: Although the histologic picture of epidermolytic hyperkeratosis is diagnostic for bullous congenital ichthyosiform erythrokerma (BCIE), it is not specific for it. It is found also in several other conditions, that is, linear epidermal nevus, epidermolytic keratisis palmaris et plantaris and epidermolytic acnthoma. Among these, BCIE is caused by mutations of the defferentiation s0pecific keratins K1 and K1-. These mutations produce a weakened cytoskeleton that is prone to collapse resulting I cell fragility and lysis. But the pathogenesis of epidermal nevus showing the similar histologic feature with BCIE is not known. OBJECTIVE: The purpose of our study is to conpare the electron microscopic picture and the immunohistochemical features, and to find the possible pathogenesis of both diseases. METHODS: We evaluated the clinical, histopathologic nd electron microscopic features of 5 BCIE cases and 14 epidermal nevus cases which were histologically diagnosed with epidermolytic hyperkeratosis at the department of dermatology at Wonju Christian Hospital, Shinchon Severance Hospital and Yongdong Severance Hospital, from January 1981 to June 1994. The immunohistochemical staining(PAP method) using monoclonal antibody against cytokeratin was performed on BCIE and epidermal nevus. RESULTS: Light microscopy of both BCIE and epidermal nevus showed the same histologic changes including hyperkeratosis, increased keratohyaline granules, acanthosis and perinuclear vacuolization of upper malpighia layer. Electron mioroscopic findings in both diseases were similar. Aggregation of tonofilaments is noted in the squamous cells, but is not evident in basal cells.In immunohistochemical study of both diseases, 34betaE12 is stained in the whole epidermis and is stuonger ex0ressed in the basal layer tan suprabasal layers. LP34 staining is evident in suprabasal cell layers up to the cornified cell layer. CONCLUSION: Electron microscopy and immunohistochemical study of both diseases showed the same finding. We thind that a defect in the differentiation specific keratins, K1 and K10 is perhaps involved in epidermal nevus histologically showing epidermolytic hyperkeratosis as in BCIE.