Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cutis marmorata telangiectatica congenita (CMTC) is a cutaneous vascular abnormality characterized by a persistent cutis marmorata pattern, spider nevuslike telangiectasia, and superficial ulceration. An infant girl was noted at birth to have characteristic features of CMTC as well as anti-Ro/SSA antibodies and a positive autonuclear antibody (ANA) test. Serologic studies carried out on her mother were positive for Ro/SSA antibodies as well as ANA (titer 1:2560). Therefore the diagnosis of neonatal lupus was made. We propose that livedo patterns mimicking CMTC might sometimes represent the residual phase of neonatal lupus active during intrauterine life.
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PMID:Cutis marmorata telangiectatica congenita or neonatal lupus? 880 25

Cutis marmorata telangiectatica congenita is an uncommon congenital vascular anomaly that is characterized by persistent, reticulated, violaceous pigmentation. We describe a female infant with vascular lesions consistent with this entity who was born to a mother with previously diagnosed systemic lupus erythematosus. Antinuclear antibodies and anti-Ro/SSA antibodies were detected in both mother and infant, supporting a diagnosis of neonatal lupus. This presentation is consistent with the rarely reported association between neonatal lupus and cutis marmorata telangiectatica congenita that suggests the latter is part of the cutaneous spectrum of the former. A thorough maternal history and laboratory investigations should be considered for infants with cutis marmorata telangiectatica congenita and their mothers in order to rule out the presence of an underlying autoimmune disease.
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PMID:Cutis marmorata telangiectatica congenita and neonatal lupus. 1754 91