Biomaterial Database

[Inherited metabolic disorders with cutaneous manifestations]. 2004

P Poblete-Gutiérrez, and T Wiederholt, and J Frank

Klinik für Dermatologie und Allergologie, Universitätsklinikum der RWTH Aachen.

Over the last years, the genetic basis of several monogenic inherited metabolic diseases has been elucidated. Interestingly, some of these disorders manifest with characteristic cutaneous symptoms that are often crucial for diagnosis. In most cases, however, besides the skin other organs are affected. Therefore, an interdisciplinary supervision of these patients is highly important. In this review we will discuss diseases that constitute a challenge not only for dermatologists but also for physicians from other specialties. A particular emphasis is put on genetic and clinical features of these disorders as well as current therapeutic concepts.

UI	MeSH Term	Description	Entries
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D010348	Patient Care Team	Care of patients by a multidisciplinary team usually organized under the leadership of a physician; each member of the team has specific responsibilities and the whole team contributes to the care of the patient.	Health Care Team,Interdisciplinary Health Team,Medical Care Team,Multidisciplinary Care Team,Multidisciplinary Health Team,Healthcare Team,Care Team, Health,Care Team, Medical,Care Team, Multidisciplinary,Care Team, Patient,Care Teams, Health,Care Teams, Patient,Health Care Teams,Health Team, Interdisciplinary,Health Team, Multidisciplinary,Healthcare Teams,Interdisciplinary Health Teams,Medical Care Teams,Multidisciplinary Care Teams,Multidisciplinary Health Teams,Patient Care Teams,Team, Health Care,Team, Healthcare,Team, Interdisciplinary Health,Team, Medical Care,Team, Multidisciplinary Care,Team, Multidisciplinary Health,Team, Patient Care,Teams, Interdisciplinary Health
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005817	Genetic Counseling	An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.	Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012875	Skin Diseases, Metabolic	Diseases of the skin associated with underlying metabolic disorders.	Metabolic Skin Diseases,Disease, Metabolic Skin,Diseases, Metabolic Skin,Metabolic Skin Disease,Skin Disease, Metabolic