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: 844  
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 
Year : 2015  |  Volume : 60  |  Issue : 2  |  Page : 217
Bloom syndrome with extensive pulmonary involvement in a child

1 From the Departments of Dermatology, Maulana Azad Medical College, New Delhi, India
2 Dr Ram Manohar Lohia Hospital and PGIMER, New Delhi, India
3 Department of Respiratory Diseases, Rajan Babu Institute of Pulmonary Medicine and Tuberculosis, New Delhi, India
4 Department of Pediatrics, Al Shifa Hospital, New Delhi, India

Date of Web Publication3-Mar-2015

Correspondence Address:
Surabhi Sinha
Dr Ram Manohar Lohia Hospital and PGIMER, New Delhi
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.152593

Rights and Permissions

How to cite this article:
Relhan V, Sinha S, Bhatnagar T, Garg VK, Kochhar A. Bloom syndrome with extensive pulmonary involvement in a child. Indian J Dermatol 2015;60:217

How to cite this URL:
Relhan V, Sinha S, Bhatnagar T, Garg VK, Kochhar A. Bloom syndrome with extensive pulmonary involvement in a child. Indian J Dermatol [serial online] 2015 [cited 2021 Aug 5];60:217. Available from: https://www.e-ijd.org/text.asp?2015/60/2/217/152593


Bloom syndrome is a rare disorder characterized by photosensitivity, growth deficiency, immunodeficiency, and increased susceptibility to neoplasms. Patients are prone to recurrent respiratory infections, owing to immunoglobulin abnormalities. We report the case of a child with Bloom syndrome with severe lung parenchymal destruction.

A 7-year-old girl presented with photosensitivity, persistent redness, and progressive scarring over the face since the age of one year. She had history of recurrent episodes of fever, cough, and respiratory distress for the past 4 years. The girl was full-term low birth weight baby, and her developmental milestones were normal, except for persistently poor gain in weight and height. History of first degree consanguinity was present in the parents. After a week of hospital stay, the patient developed high grade fever, cough with purulent sputum, and difficulty in breathing.

On examination, her weight (8.3 kg), height (91.5 cm), and head circumference (42 cm) were all below the fifth percentile. She had a small thin body frame with a narrow face, malar hypoplasia, and pointed nose. She had a dolichocephalic skull and a high arched palate. There was erythema, thin atrophic scarring, and numerous telangiectases over the face, especially the malar areas [Figure 1]. Respiratory system examination revealed tachypnea and intercostal and subcostal recession. Auscultation revealed decreased air entry in the left axillary, infrascapular, and inframammary areas with bronchial breath sounds in bilateral infraclavicular and the interscapular areas, suggesting consolidation. We considered the differential diagnosis of Ataxia telangiectasia, Russel-Silver syndrome, and Werner syndrome.
Figure 1: Child with characteristic facies with erythema, thin atrophic scarring, and numerous telangiectases over the face, especially the malar areas

Click here to view

Hematological investigations were normal, except for neutrophilic leukocytosis (18600 cells/cumm with 92% neutrophils). Urine and blood profile for porphyrins was negative. LE cell and Anti-Nuclear Antibody were negative. Levels of IgM and IgA were decreased, but IgG was normal. Sputum culture and sensitivity testing revealed growth of MRSA. A chest radiograph showed left opaque hemithorax with left mediastinal shift suggestive of collapsed lung [Figure 2]a. A contrast-enhanced computed tomography of the chest showed complete left volume loss with parenchymal destruction and areas of bronchiectatic changes indicating a destroyed lung [Figure 2]b. We thus concluded that recurrent lower respiratory tract infections since early childhood left behind bronchiectatic changes, which accumulated over time. The acute event was probably a mucus plug blocking the mouth of the left main bronchus leading to rapid complete destruction of the parenchyma.
Figure 2: (a) Chest radiograph showing left opaque hemithorax with mediastinal shift to the left suggestive of collapse of the left lung, (b) CECT (Contrast-enhanced computed tomography) of the chest showing complete volume loss of left lung with areas of bronchiectasis. The left main bronchus cannot be visualized, and, (c) High frequency of seen on chromosomal analysis of patient's blood sample

Click here to view

A skin biopsy done from the face lesion showed a flattened, atrophic epidermis with dermoepidermal junctional edema, dermal vasodilatation, and moderate perivascular lymphocytic infiltrate suggestive of chronic actinic damage. Chromosomal analysis of the child's blood sample was done, which showed a very high frequency of sister chromatid exchange (SCE), with the mean SCE per cell being 70, (normal being 10 SCE per metaphase) [Figure 2]c. Multiple spontaneous chromosomal aberrations such as breaks, deletions, triradials, and quadriradials were also observed. Cytologic studies of her father's blood did not reveal any abnormality. On the basis of chromosomal analysis, the child was diagnosed as Bloom syndrome with severe lung destruction. She was started on intravenous antibiotics along with bronchodilators and low - flow oxygen in consultation with respiratory physicians. However, she spiraled into acute respiratory failure (Type II) and eventually succumbed to her pulmonary complications after 27 days.

Bloom syndrome (BS) is a rare autosomal-recessive disorder associated with immunodeficiency, genomic instability, and a predisposition to cancer caused by a mutation in the BLM gene on chromosome 15q26.1. [1] The protein encoded by the normal gene has DNA helicase activity and functions in the maintenance of genomic stability. [1] Cells from BS patients characteristically show an increased frequency of chromatid gaps, breaks, and rearrangements, most particularly quadriradials and increased sister chromatid exchanges (SCEs). [2] The latter two features are indicative of aberrant Homologous Recombination (a DNA repair pathway). Nicotera et al. suggested that the major biochemical defect in BS is chronic overproduction of the superoxide radical and inefficient removal of peroxide is responsible for the high rates of SCEs and chromosomal damage. [3]

Growth delay is usually the first manifestation. Other associated dermatological features and immunodeficiency are not present or recognizable at birth. Respiratory infection is the most important manifestation of immunodeficiency. Prolonged low levels of IgM have been reported in these patients, and this hypogammaglobulinemia is often causally associated with sinopulmonary infections. [4],[5]

More than 170 case reports of Bloom syndrome have been published in literature to date. We did an extensive search of literature but were unable to find any other report of BS with pulmonary sequelae in a child. Nair et al. [6] have reported Bloom syndrome leading to serious pulmonary complications is of an adult Indian patient. They described a 24-year-old male with cystic bronchiectasis and emphysema with type II respiratory failure who eventually succumbed to his illness. The authors attempted genetic studies to confirm Bloom syndrome, but could not obtain cell growth, and thus termed him as probably having Bloom syndrome. To the best of our knowledge, this is the first report of Bloom syndrome with a destroyed lung in a child.

   Acknowledgement Top

The authors wish to express their gratitude to Prof. R. N. K. Bamezai, Ph.D., F.N.A.Sc, F.I.M.S.A, F.A.M.S, F.N.A., Professor of Genetics and Director (Coordinator) National Center of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi, for his invaluable help in chromosomal analysis of the patient.

   References Top

Chabosseau P, Buhagiar-Labarchède G, Onclercq-Delic R, Lambert S, Debatisse M, Brison O, et al. Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. Nat Commun 2011;2:368.  Back to cited text no. 1
Seki M, Nakagawa T, Seki T, Kato G, Tada S, Takahashi Y, et al. Bloom helicase and DNA topoisomerase III alpha are involved in the dissolution of sister chromatids. Mol Cell Biol 2006;26:6299-307.  Back to cited text no. 2
Nicotera TM, Notaro J, Notaro S, Schumer J, Sandberg AA. Elevated superoxide dismutase in Bloom's syndrome: A genetic condition of oxidative stress. Cancer Res 1989;49:5239-43.  Back to cited text no. 3
Kondo N, Motoyoshi F, Mori S, Kuwabara N, Orii T, German J. Long-term study of the immunodeficiency of Bloom's syndrome. Acta Paediatr 1992;81:86-90.  Back to cited text no. 4
German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet 1997;93:100-6.  Back to cited text no. 5
Nair G, Lobo I, Jayalaksmi TK, Uppe A, Jindal S, Chandra A, et al. Bloom syndrome with lung involvement. Lung India 2009;26:92-4.  Back to cited text no. 6
[PUBMED]  Medknow Journal  


  [Figure 1], [Figure 2]


Print this article  Email this article
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Article in PDF (527 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  

    Article Figures

 Article Access Statistics
    PDF Downloaded42    
    Comments [Add]    

Recommend this journal