An infant with cutis marmorata telangiectatica congenita born to a mother with systemic lupus erythematosus

Cutis marmorata telangiectatica congenita (CMTC) is a rare and benign capillary disease of unknown cause, characterized by marbled skin patches accompanied by body asymmetry, neurological disorders, and ophthalmological complications.1 Although diagnostic criteria have been defined for CMTC, the diagnosis of CMTC is one of exclusion and differentiation from other underlying diseases is important.2 Here, we report the case of a newborn with CMTC in which a skin biopsy was required for differentiation from neonatal lupus, as the mother had a history of systemic lupus erythematosus (SLE) and Sjögren's syndrome. The female neonate was noted to have reticulated marbled erythema and body asymmetry between the left and right feet on the first day of life. Her 30-year-old mother had been diagnosed with SLE and Sjögren's syndrome at 17 years old and was being treated with prednisone, hydroxychloroquine, and belimumab. The infant was born by vaginal delivery at 37 weeks of gestation. Apgar score was 8 at 1 min and 9 at 5 min, and body weight was 2574 g. On physical examination, cutis marmoratus lesions were observed on the right face, right abdomen, right upper extremity, and lower extremity. No atrophy and ulcers were observed. In addition, the circumference of the thigh was 1 cm smaller on the right than on the left (Figure 1, panels a and b). Laboratory tests were notable for elevated anti-SS-A antibody (210 U/mL). ECG showed no atrioventricular block. On day 9, anti-SS-A antibody was over 240 U/mL, and skin biopsy was performed to rule out neonatal lupus. The results showed no lymphocyte infiltration (c), which would be seen in neonatal lupus, and direct immunofluorescence was negative for IgG, IgA, IgM, and C-1q. In addition, dilated blood vessels were observed in the subcutaneous adipose tissue (panel d, arrow). Based on these pathological findings consistent with CMTC, a diagnosis of CMTC was made. Brain MRI and MRA suggested no cerebrovascular malformations, and no evidence of congenital glaucoma was observed. At a 2-month check-up, the patient was developmentally normal. The cutis marmoratus lesions still remain faintly, and although there is no difference in leg length between the left and right legs, the circumference of the thigh was 1 cm smaller on the right than on the left (panels e and f). In addition, anti-SS-A antibody decreased to 8.7 U/mL at a 6-month check-up. CMTC is an uncommon and distinctive vascular malformation, and its etiology remains unknown. CMTC is frequently accompanied by body asymmetry (asymmetry of the limbs, trunk and face) in 37.7%, neurological defects (seizures and developmental delay) in 10.1%, and ophthalmological complications (congenital glaucoma) in 9.9%.1 Given these complications, follow-up differs from that for spontaneously resolving neonatal lupus, and differential diagnosis is important. Distinguishing between CMTC and neonatal lupus is often difficult, but the skin biopsy in this case allowed us to rapidly rule out neonatal lupus, as a previous paper has reported the pathological findings of CMTC, in which multiple dilated capillaries and veins are within the dermis.3 Similar to our present report, some previous papers about CMTC have reported differentiation from neonatal lupus.4, 5 Based on these case reports, it may be possible that CMTC is more likely to occur in cases of maternal SLE, but the reasons for this remain unclear. CMTC infants born to mothers with a history of SLE may have specific complications and require unique outpatient follow-up, so we conclude that skin biopsy is not necessary but can be useful in differentiation from neonatal lupus and diagnosis of CMTC. R.M. and T.M. drafted the manuscript. M.K., E.S., J.O., T.Y., and N.T. revised the manuscript for intellectual content. All authors have read and approved the final version of the manuscript. Informed consent for publication of this case report was obtained from the parents of the patient. The authors would like to thank Dr. Atsushi Kondo in the Department of Pathology, The University of Tokyo Hospital, for the skin pathology. The authors declare no conflict of interest. Data sharing not applicable to this article as no datasets were generated or analysed during the current study.