Indian Journal of Dermatology
  Publication of IADVL, WB
  Official organ of AADV
Indexed with Science Citation Index (E) , Web of Science and PubMed
 
Users online: 282  
Home About  Editorial Board  Current Issue Archives Online Early Coming Soon Guidelines Subscriptions  e-Alerts    Login  
    Small font sizeDefault font sizeIncrease font size Print this page Email this page


 
Table of Contents 
CASE REPORT
Year : 2011  |  Volume : 56  |  Issue : 6  |  Page : 734-736
Congenital lupus erythematosus


Department of Internal Medicine, Dermatology Division, King Fahad Medical City, Riyadh, Saudi Arabia

Date of Web Publication14-Jan-2012

Correspondence Address:
Taseer Ahmed Bhatt
Department of Internal Medicine, Dermatology Division, King Fahad Medical City, Riyadh - 11525
Saudi Arabia
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.91841

Rights and Permissions

   Abstract 

Neonatal lupus erythematosus (NLE) is an autoimmune disease affecting the fetus as a result of transplacental transfer of anti-Ro autoantibodies. Typically, it presents in the first few months of life with an annular form of subacute cutaneous lupus erythematosus. We report an unusual case of NLE presenting at birth with scaly erythematous telangiectatic patches and macules with skin atrophy involving the face, head, and upper trunk. Thrombocytopenia was discovered on laboratory investigations. Histopathology of skin biopsy was consistent with subacute cutaneous lupus. The mother was clinically free of disease and had no family history of autoimmune disease. Serology (extra-nuclear antigens) was positive in both the baby and the mother. This is a rare presentation of a rare disease.


Keywords: Atrophic lesions, congenital lupus erythematosus, Saudi Arabia


How to cite this article:
Bhatt TA, Fatani HA, Mimesh S. Congenital lupus erythematosus. Indian J Dermatol 2011;56:734-6

How to cite this URL:
Bhatt TA, Fatani HA, Mimesh S. Congenital lupus erythematosus. Indian J Dermatol [serial online] 2011 [cited 2020 Jul 7];56:734-6. Available from: http://www.e-ijd.org/text.asp?2011/56/6/734/91841



   Introduction Top


Neonatal lupus erythematosus (NLE) is the result of fetal injury caused by passive transfer of autoantibodies from the mother to the fetus. The autoantibodies are directed against extranuclear antigens SSA/Ro and SSB/La. It presents over a period of weeks to months with a photosensitive annular transient skin rash, reversible alteration of hematological and hepatic function and irreversible cardiac disease. The cutaneous manifestations are histologically identical to those of subacute cutaneous lupus. The cutaneous manifestations typically resolve with few sequelae if any. In contrast to the cutaneous manifestations, the cardiac disease presents at birth. The major cardiac finding is heart block with or without cardiomyopathy.

We report an unusual presentation of NLE presenting at birth with erythematous patches and macules, with telangiectasias and scales distributed on the face and head and atrophic scars on the trunk.


   Case Report Top


The infant was a product of full-term normal spontaneous vaginal delivery. She was born to a 23-year-old mother, P1+0 at fullterm of gestation. She weighed 2.48 kg with an Apgar score of 9/10 and had no perinatal complications. She is the offspring of a nonconsanguinous marriage. The mother had regular antenatal visits and was completely healthy.

The infant was noted to have a skin rash by the pediatrician at birth and was referred to dermatology. On examination, she had erythematous patches and macules with telangiectasias and atrophy, with fine scales in a few lesions. The changes were concentrated but were not limited to the face, in particular the periorbital region [Figure 1]. On the upper trunk and scalp, there were multiple atrophic macules with telangiectasias. No dysmorphic features were noted.

A thorough physical examination was performed by the pediatrician, which failed to reveal lymphadenopthy or organomegaly. Abdominal ultrasonography was normal.
Figure 1: Erythematous confluent macular rash involving the face, especially the periocular area, with atrophic depressed lesion on the forehead

Click here to view


On investigations, a complete blood count (CBC) showed a platelet count of 92.4 × 10.e9/L. On repeat CBC, a value of 81.6 × 10.e9/L was obtained. Liver enzymes were normal. A full TORCH screen, herpes and syphilis screening for the newborn and the mother was negative. Serology for anti nuclear antibody (ANA) and extractable nuclear antigen (ENA) antibodies were tested for the infant and mother. The infant had positive anti-Ro and anti-La antibodies. ANA was negative. A 3-mm skin biopsy was taken from a lesion on the scalp. The histopathological examination of the skin biopsy revealed epidermal atrophy, follicular plugging, vacuolar interface dermatitis at the dermoepidermal junction and superficial perivascular lymphocytic infiltrate with dermal edema [Figure 2]. Alcian blue stain was positive for dermal mucin deposition. Direct immunoflourescence microscopy revealed a band of IgG, IgM and C3 deposits at the dermoepidermal junction.
Figure 2: Flattened epidermis with follicular plugging and vacuolar degeneration of the basal layer. There is edema of the papillary dermis (H & E stain, 100×)

Click here to view


This confirmed the diagnosis of NLE. The patient was referred to cardiology and had an electrocardiogram (ECG) and an echocardiograph done. The physical examination and both studies were normal.

In view of these results, the mother was seen by a rheumatologist and screened for collagen vascular disease. The clinical examination was normal but the serology was positive for both anti-Ro and anti-La autoantibodies.

The mother and infant were discharged from the hospital after 1 week. The patient was given 1% hydrocortisone cream to be applied twice-daily to the lesions and advised the use of sun protection. They were seen in follow-up 2 weeks later. The erythematous patches on the face and scalp improved, leaving telangiectasias and atrophy.


   Discussion Top


Neonatal lupus erythematous is an uncommon autoimmune disorder described first in 1954 by McCuiston and Schoch. [1] It is a passive autoimmune disease secondary to the transplacental transfer of ANA and extractable nuclear antigen (anti-Ro and anti-La; U 1 -RNP) antibodies to the fetus. [2] The mother may be apparently healthy or may have an overt connective tissue disorder. [3] NLE is characterized by a combination of dermatological, cardiac, hematological and hepatic manifestations. The skin lesions are characterized by annular or polycyclic erythematous scaly plaques evolving within the first month of birth, and involve mostly the face, especially the periocular area. The lesions are transient and resolve over a period of 6-9 months along with a decline in the autoantibody levels, but may leave behind residual dyspigmentation, scarring and telangectasia. Cardiac manifestations are seen in half of the NLE cases and present as irreversible conduction defects. [4] About 10% of the NLE is present with both cardiac and dermatologic disease. Hematological and hepatic abnormalities are often asymptomatic and transient. They include hemolytic anemia, neutropenia, thrombocytopenia and elevated liver enzymes, respectively. [5]

The presence of congenital cutaneous lesions showing evidence of atrophy is very rare, with only few cases reported in the literature. [6],[7] It indicates the occurrence of the lesions during pregnancy with an irreversible outcome.

Our patient presented with both inflammatory lesions as well as atrophic scars at birth. The inflammatory lesions were present on the scalp, face and ears as oval scaly erythematous macules with confluence over the central portion of the face. The characteristic annular skin lesions of NLE were not seen in our patient. The skin on the scalp and forehead had multiple depressed, atrophic scars with telangiectasias. Some of the lesions on the trunk had a morphea-like appearance. The presence of scars and telangectasia made us consider other possible differential diagnoses, which include congenital viral infections and genetic disorders, such as Rothmond-Thompson and Goltz syndrome besides NLE.

The congenital presence of the inflammatory lesions seen in our patient also puts a doubt over the role of ultraviolet rays as a primary triggering factor for the dermatitis seen in NLE. The diagnosis of NLE was confirmed by the histopathology and direct immunoflouresence of the skin biopsy as well as the presence of the autoantibodies seen in both the neonate and the mother.

In conclusion, we believe this to be a very interesting case of NLE presenting at birth. The presence of cutaneous involvement at birth, in addition to the lack of maternal history, posed a diagnostic challenge. Confirmation of the diagnosis was made on skin biopsy and positive serology.

 
   References Top

1.McCuiston CH, Schoch EP. Possible discoid lupus erythematosus in newborn infant. Arch Dermatol 1954;70:781-5.   Back to cited text no. 1
    
2. Crowley E, Frieden IJ. Neonatal lupus erythematosus: An unusual congenital presentation with cutaneous atrophy, erosion, alopecia and pancytopenia. Pediatr Dermatol 1998;15:38-42.   Back to cited text no. 2
[PUBMED]  [FULLTEXT]  
3. Miyagawa S, Shinohara K, Kidoguchi KI, Fujita T, Fukumoto T, Yamashina Y, et al. Neonatal lupus erythematosus: HLA-DR and DQ distribution are different among the groups of anti-Ro/SSA-positive mothers with different neonatal outcomes. J Invest Dermatol 1997;108:881-5.   Back to cited text no. 3
    
4. Winkler RB, Nora AH, Nora JJ. Familial congenital complete heart block and maternal systemic lupus erythematosus. Circulation 1977;56:1103-6.   Back to cited text no. 4
[PUBMED]  [FULLTEXT]  
5. Watson RM, Kang JE, May M, Hudak M, Kickler T, Provost TT. Thrombocytopenia in the neonatal lupus syndrome. Arch Dermatol 1988;124;560-3.   Back to cited text no. 5
    
6. Cimaz R, Biggioggero M, Catelli L, Muratori S, Cambiaghi S. Ultraviolet light exposure is not a requirement for the development of cutaneous neonatal lupus. Lupus 2000;11:257-60.   Back to cited text no. 6
    
7. Diociaiuti A, Paone C, Giraldi L, Paradisi M, El Hachem M. Congenital Lupus Erythematosus: Case report and review of the literature. Pediatr Dermatol 2005;22:240-2.  Back to cited text no. 7
[PUBMED]  [FULLTEXT]  


    Figures

  [Figure 1], [Figure 2]

This article has been cited by
1 Congenital Lupus with Multiorgan Involvement: A Case Report and Review of Literature
Laura Padilla-España,Rocio Díaz Cabrera,Javier Del Boz,Carmen Lozano Calero
Pediatric Dermatology. 2015; : n/a
[Pubmed] | [DOI]
2 Diagnóstico diferencial de las lesiones anulares eritematosas en el recién nacido
Ana María Rodríguez Martín,Antonio Vélez García-Nieto
Piel. 2014;
[Pubmed] | [DOI]
3 Demographic and clinical characteristics of cutaneous lupus erythematosus at a paediatric dermatology referral centre
B.Z. Dickey,K.E. Holland,B.A. Drolet,S.S. Galbraith,V.B. Lyon,D.H. Siegel,Y.E. Chiu
British Journal of Dermatology. 2013; 169(2): 428
[Pubmed] | [DOI]



 

Top
Print this article  Email this article
 
 
  Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (1,117 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case Report
   Discussion
    References
    Article Figures

 Article Access Statistics
    Viewed2664    
    Printed73    
    Emailed0    
    PDF Downloaded47    
    Comments [Add]    
    Cited by others 3    

Recommend this journal