124 Desmoplakin mutation in neonatal erythroderma
نویسندگان
چکیده
منابع مشابه
Differential diagnosis of neonatal and infantile erythroderma.
Neonatal and infantile erythroderma is a diagnostic and therapeutic challenge. Numerous underlying causes have been reported. Etiologic diagnosis of erythroderma is frequently difficult to establish, and is usually delayed, due to the poor specificity of clinical and histopathologic signs. Differential diagnosis of erythroderma is a multi-step procedure that involves clinical assessment, knowle...
متن کاملNovel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.
BACKGROUND Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities of the right ventricle (RV). Several disease loci have been identified. Mutations in desmoplakin have recently been isolated in both autosomal-dominant and autosomal-recessive forms of ARVC. Primary left ventricular (LV) var...
متن کاملNeonatal erythroderma as a first manifestation of Menkes disease.
Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed by mutation analysis of the ATP7A gene. We report an exceptional presentation of classic Menkes disease wit...
متن کاملDesmoplakin regulates desmosome hyperadhesion
The skin is subjected to continuous physical stress. Keratinocytes resist mechanical stress by tethering the tension-bearing keratin intermediate filament cytoskeleton to sites of intercellular contact known as desmosomes (Garrod and Chidgey, 2008; Green and Simpson, 2007). The plakin protein desmoplakin (DP) is an obligate desmosomal constituent necessary for keratin anchorage at cell-cell con...
متن کاملerythroderma . Myelodysplasia presenting as
Cutaneous manifestations of haematological malignancies, although well recognized in acute monoblastic leukaemia and lymphoma, are relatively uncommon in primary myelodysplastic syndrome (MDS), which is a group of heterogeneous disorders formerly known as pre-leukaemia. Previously reported cases of skin involvement in this syndrome have been confined to a sub-type of MDS, namely chronic myelomo...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2017
ISSN: 0022-202X
DOI: 10.1016/j.jid.2017.07.434