Trata-se de uma pesquisa qualitativa, na qual foi adotada a metodologia do Estudo de Caso 9. A histopatologia apresentou hiperqueratose hiperproliferativa com gramada granulosa espessada. No terceiro dia de vida foi realizado cateterismo umbilical e iniciada antibioticoterapia com Ampicilina e Gentamicina. Depois de 16 dias de internamento, o RN aceitou parcialmente o volume da dieta via oral. A profissional dermatologista optou pela Vaselina.
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Lamellar ichthyosis LI is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
It is the most common variant of autosomal recessive congenital ichthyosis ARCI; see this term. Newborns are often encased in a collodion membrane taut, shiny, translucent membrane appearing as an extra skin layer with ectropion and eclabium. Once the membrane has been shed after one-two weeks , scales covering the whole body become apparent. In classic LI, scales are large, dark and plate-like.
Milder forms with lighter and thinner scales are possible. Contrarily to congenital ichthyosiform erythroderma CIE , there is no significant erythroderma. Nevertheless, LI and CIE are the two extremities of a same spectrum with many patients exhibiting intermediate phenotypes.
Furthermore, patient's phenotypes may change over time or under treatment. Skin is usually itchy or painful cracks , mobility can be reduced due to skin stiffness and the sensitivity may be reduced by skin thickness. Other associated features include: persistent ectropion and associated eye complications keratitis, corneal scarring , nail dystrophy, scarring alopecia, palmo-plantar keratoderma, failure to thrive, short stature, hypohidrosis with heat intolerance, and hearing defects due to the accumulation of scales in the external ear.
LI is a genetically heterogeneous disease. Most mutations are found in the TGM1 gene encoding transglutaminase 1, involved in the formation of the epidermal cornified cell envelope.
There is no clear genotype-phenotype correlation. The diagnosis is based on the clinical appearance of the skin. Histological aspect of the skin is not specific. Molecular testing is possible but is not available in general practice. Immunohistochemistry using antibodies directed against TGase 1 or TGase 1 enzyme activity measurement is available in some centers. Differential diagnoses include syndromic forms of ichthyosis, recessive X-linked ichthyosis and autosomal dominant ichthyosis vulgaris in mild forms, and CIE in case of erythroderma see these terms.
The disease is transmitted as an autosomal recessive trait. Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. Ultrasonography can detect the collodion membrane. Management is based on daily applications of emollients or keratolytics.
Prognosis is variable. During the neonatal period, there is a risk of sepsis and hydro-electrolytic troubles. The disease often remains stable over the life, with periods of exacerbation. The life expectancy is normal. The disease has a strong impact on the quality of life due to the altered physical appearance, the troublesome symptoms, and the constraints due to disease and the treatment. Other search option s Alphabetical list.
Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Disease definition Lamellar ichthyosis LI is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
Clinical description Newborns are often encased in a collodion membrane taut, shiny, translucent membrane appearing as an extra skin layer with ectropion and eclabium. Etiology LI is a genetically heterogeneous disease. Diagnostic methods The diagnosis is based on the clinical appearance of the skin.
Differential diagnosis Differential diagnoses include syndromic forms of ichthyosis, recessive X-linked ichthyosis and autosomal dominant ichthyosis vulgaris in mild forms, and CIE in case of erythroderma see these terms. Antenatal diagnosis Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. Management and treatment Management is based on daily applications of emollients or keratolytics.
Prognosis Prognosis is variable. Detailed information Article for general public Svenska Additional information Further information on this disease Classification s 4 Gene s 9 Clinical signs and symptoms Publications in PubMed Other website s 6.
Health care resources for this disease Expert centres 97 Diagnostic tests 38 Patient organisations 39 Orphan designation s and orphan drug s 5. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris , which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance and their genetic cause. Ichthyosis caused by the same gene can vary considerably in severity and symptoms. Some ichthyoses do not appear to fit exactly into any one type.
Nursing care for a newborn with Lamellar Ichthyosis: a case study in a neonatal unit. A qualitative intralocal study implementing the Case Study methodology, in which a real case was explored in a delimited system with data collection from multiple sources of information during 66 days of hospitalization in The nursing care present in the protocol was based on: maintaining skin integrity through hydration and continuous lubrication with emollients, temperature control, nutrition and prevention of secondary infections. Through the case study, it is affirmed that implementation of the Nursing Process, especially the care plan, was essential for the multidisciplinary success of the treatment.