Generic selectors
Exact matches only
Search in title
Search in content
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF
CROSSMARK LOGO Buy Reprints
PDF

Translate this page into:

Observation Letters
87 (
5
); 701-703
doi:
10.25259/IJDVL_867_19
pmid:
34379945

Langerhans cell histiocytosis presenting as blueberry muffin baby with associated mediastinal mass

Department of Dermatology Venereology and Leprology, Geetanjali Medical College and Hospital, Udaipur, Rajasthan, India
Corresponding author: Dr. Kapil Vyas, B 3 Teachers, Quarters, Geetanjali Medical College, Udaipur, Rajasthan, India. kapilvyas23@gmail.com
Licence
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Menghani G, Kaur N, Gupta K, Vyas K. Langerhans cell histiocytosis presenting as blueberry muffin baby with associated mediastinal mass. Indian J Dermatol Venereol Leprol 2021;87:701-3.

Sir,

Langerhans cell histiocytosis (LCH) is an abnormal growth of immature dendritic antigen presenting cells positive for S100 and CD1a on immunostaining and characterized by Birbeck granules on electron microscopy. It is one of the rare causes presenting as blueberry muffin baby, which is characterized by purple, erythematous macular, or papulonodular lesions reflecting dermal hematopoiesis.1

A term newborn, delivered through caesarean section, was referred to the department of dermatology at Geetanjali Medical College, Udaipur, with multiple red-brown papulonodular lesions of varying sizes over the face, trunk, and extremities [Figure 1]. General condition of the neonate was well, with birth weight of 2.6 kgs and Apgar score of nine at one minute. The antenatal records revealed a mediastinal mass on fetal ultrasound of mother at 28 weeks of gestation. The baby was delivered through caesarean section anticipating the respiratory distress at the time of parturition due to mediastinal mass. The intranatal and postnatal period was uneventful without any complications. Antenatal records of mother were non-reactive for human immunodeficiency virus (HIV) and Toxoplasma gondii, other agents, rubella, cytomegalovirus, and herpes simplex virus (TORCH) infections.

Figure 1:: Multiple red-brown papulonodular lesions on the face, trunk, and extremities

The child was screened negative for birth anomalies, ophthalmic, and auditory defects. Radiological and histopathological evaluation of cutaneous and mediastinal lesions of the neonate was planned but parents deferred for histopathological examination of mediastinal mass. Chest X-ray and computed tomography of thorax revealed a mass in the anterior mediastinum with approximate size of 3.5 × 6.7 cm [Figure 2]. Regional ultrasound of abdomen and brain was normal. Routine laboratory investigations including hematological, urinary, and metabolic profile were normal. Serology for Venereal Disease Research Laboratory (VDRL), HIV and TORCH infections were found non-reactive.

Figure 2:: Anterior mediastinal mass on postnatal computerized tomography scan of chest

Histopathological examination from the skin nodule revealed multiple large cells with eosinophilic cytoplasm and reniform nucleus akin to dermal histiocytes and epidermal Langerhans cells [Figures 3a and b]. Immunohistochemical evaluation showed positivity for S100 [Figure 4] and CD1a [Figure 5] confirming the diagnosis of Langerhans cell histiocytosis.

Figure 3a:: Dermal infiltrates of Langerhans cells showing reniform or infolded nuclei (H&E, ×40)
Figure 3b:: Dermal infiltrates of Langerhans cells showing reniform or infolded nuclei (H&E, ×400)
Figure 4:: S100-positive immunostaining for dermal infiltrates (IHC S100, ×400)
Figure 5:: CD1a-positive immunostaining for dermal infiltrates (IHC CD1a, ×400)

The neonate was managed with supportive care but failed to thrive with intermittent episodes of fever and inability to gain weight over a period of three months. On subsequent investigations, pancytopenia was apparent with immature leukocytes on peripheral smear. Clinical profile of the child was reminiscent of aggressive form of Langerhans cell histiocytosis and treatment was started with vinblastine and systemic prednisolone. After two cycles of chemotherapy, the child succumbed to death due to myelosuppression.

Langerhans cell histiocytosis encompasses a heterogeneous clinical profile and may be subdivided into single system and multisystem disease. Bone and skin are commonly involved in single system disease. Multisystem disease can involve different organs including skeletal, skin, pituitary gland, liver, spleen, lungs, and the hematopoietic system. Our case emphasizes the rare presentation of multisystem variant as blueberry muffin baby with prenatal evidence of mediastinal mass, which was confirmed postnatally by imaging. Although common causes of anterior mediastinal mass in neonates are lymphomas, ectopic thymus, thymoma, and teratomas, Langerhans cell histiocytosis presenting as an isolated anterior mediastinal mass has been described rarely in the literature.2 Although we failed to obtain the biopsy from the mediastinal mass, we presumed it to be reactive Langerhans cell histiocytosis due to concurrent presence of cutaneous lesions diagnosed histopathologically as histiocytosis.

All forms of Langerhans cell histiocytosis, whether benign or malignant, are indistinguishable under microscope and reveal a reactive proliferation of CD1a and S100 protein-positive cells.3 Skin involvement is observed in about 40% of cases. It is reported that skin lesions are the first manifestation in 80% of patients.4 Cutaneous manifestation of Langerhans cell histiocytosis may range from erythematous maculopapular lesion to red-brown plaques, vesicles, purpura, nodules, and cyst. Secondary skin changes such as crust, scab, and ulcers are also not uncommon. The clinical presentation is helpful in guiding appropriate treatment and assigning prognosis. Varying etiology and presentation of Langerhans cell histiocytosis emphasize the importance of reporting every atypical presentation of this disease in clinical settings. Our case, presenting as anterior mediastinal mass, adds to the gamut of unknown atypical presentations of Langerhans cell histiocytosis.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

  1. , , , . Congenital self-healing histiocytosis presenting as blueberry muffin baby: A case report and literature review. Indian J Dermatol Venereol Leprol. 2012;78:407.
    [CrossRef] [Google Scholar]
  2. , . Langerhans cell histiocytosis presenting as isolated mediastinal mass in an infant. Indian Pediatr. 2014;51:397-8.
    [CrossRef] [Google Scholar]
  3. , , , , , . Late-onset self healing langerhans cell histiocytosis: Report of a very rare entity. Rev Paul Pediatr. 2017;35:115-9.
    [CrossRef] [Google Scholar]
  4. , , , . Langerhans cell histiocytosis: A case report with unusual cutaneous manifestation. Adv Biomed Res. 2018;7:402.
    [CrossRef] [Google Scholar]
  5. , , , . Congenital langerhans cell histiocytosis: A good prognosis disease? An Bras Dermatol. 2017;92:40-2.
    [CrossRef] [Google Scholar]

Fulltext Views
3,093

PDF downloads
54
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections