Disease relevance of Skin Abnormalities

• Three patients with an unusual multisystemic syndrome characterized by polyneuropathy, organomegaly *especially hepatosplenomegaly), endocrine dysfunction, M-protein, and skin abnormalities (POEMS syndrome) are discussed [1].
• X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia [2].
• OBJECTIVE: To determine the prevalence, distribution, and histopathological conditions of skin abnormalities in neurofibromatosis 2 (NF2) [3].
• Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, dehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apathy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) various skin abnormalities have been detected in about 50% of all patients [4].
• His clinical features were chracterized by epilepsy, mental retardation, skin abnormalities including adenoma sebaceum, shagreen patch and ash-leaf spots [5].

High impact information on Skin Abnormalities

• Overexpression of IL-20 in transgenic (TG) mice causes neonatal lethality with skin abnormalities including aberrant epidermal differentiation [6].
• Skin abnormalities generated by temporally controlled RXRalpha mutations in mouse epidermis [7].
• Furthermore, skin abnormalities similar to BCCs developed in transgenic murine skin overexpressing mutant SMO [8].
• Limb and skin abnormalities in mice lacking IKKalpha [9].
• Growth retardation and skin abnormalities of the Recql4-deficient mouse [10].

Chemical compound and disease context of Skin Abnormalities

• 10% Linoleic acid applied topically for 2 weeks corrected the gross and histological skin abnormalities and reduced epidermal DNA synthesis to normal values [11].
• Cessation of the medication (chlorpromazine) led to resolution of the skin abnormalities [12].
• Voriconazole has three important side-effects that the clinician must consider: liver abnormalities, skin abnormalities and visual disturbances [13].
• Possible involvement of histamine and histidine decarboxylase (HDC), the synthesizing enzyme for histamine, in the formation of the skin abnormalities in SSc was studied [14].
• Skin abnormalities in the National Portrait Gallery [15].

Biological context of Skin Abnormalities

• IL-20 induces cheratin proliferation and Stat-3 signal transduction pathway, while IL-22 induces acute-phase production by hepatocytes and neonatal lethality with skin abnormalities reminiscent of psoriasic lesions in humans [16].
• Recently, unique heterozygous, insertion mutations in the loricrin gene have been found to underlie certain congenital skin abnormalities, the phenotypes of which vary considerably [17].

Gene context of Skin Abnormalities

• Recently it was shown that mice deficient in IRF-2, a transcriptional repressor of IFN signalling and thereby acting as an IRF-1 antagonist, display psoriasis-like skin abnormalities [18].
• Mutations in epidermal keratin genes have been shown to cause severe blistering skin abnormalities [19].
• Skin abnormalities in mice transgenic for plasminogen activator inhibitor 1: implications for the regulation of desquamation and follicular neogenesis by plasminogen activator enzymes [20].
• A mutant mouse with severe anemia and skin abnormalities controlled by a new allele of the flaky skin (fsn) locus [21].
• Common benign skin abnormalities and related tumours were investigated for the presence of carcinoembryonic antigen (CEA) using immunohistological techniques in formalin-fixed tissue [22].

References