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 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
Obervation Letter
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
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF
Letter To Editor
2007:73:3;198-199
doi: 10.4103/0378-6323.32750
PMID: 17558059

Pilomatricoma in a case of familial xeroderma pigmentosum

Meenal R Patil1 , Vishalakshi Vishwanath2 , Manoj Arya1 , BP Shenoy1 , RN Bharmal1 , RG Torsekar2
1 Department of Pathology, Rajiv Gandhi Medical College and Chhatrapati Shivaji Maharaj Hospital Kalwa, Thane, India
2 Department of Dermatology, Rajiv Gandhi Medical College and Chhatrapati Shivaji Maharaj Hospital Kalwa, Thane, India

Correspondence Address:
Meenal R Patil
Bungalow No. 1, Palacio, Siddeshwar Gardens, Kolshet Road, Thane (West) - 400 607
India
How to cite this article:
Patil MR, Vishwanath V, Arya M, Shenoy B P, Bharmal R N, Torsekar R G. Pilomatricoma in a case of familial xeroderma pigmentosum. Indian J Dermatol Venereol Leprol 2007;73:198-199
Copyright: (C)2007 Indian Journal of Dermatology, Venereology, and Leprology
Figure 1: A preauricular and a lip nodule
Figure 1: A preauricular and a lip nodule

Sir,

Xeroderma pigmentosum (XP) is a genodermatosis characterized by pigmentary abnormalities, solar skin damage and cutaneous malignancies in the sun-exposed areas. [1] The various skin tumors seen in XP include basal and squamous cell carcinomas, malignant melanomas and less commonly keratoacanthomas, angiomas, fibromas and sarcomas. Pilomatricoma is a benign neoplasm with differentiation towards the hair matrix and has not yet been reported in association with XP. We report this case for such an occurrence.

A 13-year-old boy, a known case of familial XP presented with two nodular swellings, one on the right preauricular area measuring 3.5 cm and the other near the upper lip measuring 1.5 cm, both of five months duration [Figure - 1]. They were skin-colored, rounded nodules, firm in consistency and showed no overlying skin changes. There was no lymphadenopathy. Both lesions were excised and sent for histopathological study.

Gross examination of both nodules revealed a grey white cut surface. Microscopic examination of the preauricular swelling showed masses of epithelial cells with two cell types: basophilic cells at the periphery of cell islands and eosinophilic shadow cells towards the centre. Intervening stroma showed foreign body giant cells. A diagnosis of pilomatricoma was made based on these findings. Histopathological examination of the lip nodule showed features of well-differentiated squamous cell carcinoma.

The patient was one of the three affected siblings, born of a second degree consanguineous marriage in a family with four children. While the eldest sister was unaffected, the patient′s second sister and a younger brother were similarly afflicted by the disease. Subsequently on a four-year follow-up, the patient developed multiple cutaneous tumors on the face simultaneously, which included a conjunctival squamous cell carcinoma, a pigmented basal cell epithelioma on the nose and a malignant melanoma on infraorbital area. The brother too, had developed multiple cutaneous malignancies and died at the age of 15 years, due to the spread of the tumors.

Blood samples of the patient and his sister were sent for chromosomal analysis and 72h stimulated culture-GTG banding with BrdU with controlled match blood sample was performed. While it revealed an increase in sister chromatid exchanges (8-11) in the patient, the number of sister chromatid exchanges in the affected sister were similar to that of the control sample. The patient succumbed to the metastasis of cutaneous malignancies at the age of 17 years. The sister has, as yet, not developed any tumors and has been put on isotretinoin prophylaxis.

Pilomatricoma is a benign pilar tumor with characteristic histology and 60% cases develop in the first two decades of life on head, neck and upper extremities. [2] Its association with xeroderma pigmentosum is hitherto unreported. Whether such an occurrence in our patient is coincidental or an unusual tumor manifestation in XP remains an unanswered question.

Xeroderma pigmentosum is a rare autosomal recessively inherited disorder affecting one in 2,50,000 population. [3] It shows genetic heterogeneity with at least ten different complementation groups identified which have different clinical presentations. [2] Simultaneous occurrence of multiple cutaneous malignancies is common in XP. [4] Nash and Kaelbling have described chromosomal breakages with increase in the number of sister chromatid exchanges in patients of XP and a 1000-fold increased risk of skin cancers. [5] Our patient showed similar chromosomal aberrations which correlated well with his tendency to harbor multiple tumors while his sister who did not show increased number of sister chromatid exchanges has not yet developed cutaneous tumors. Increased mortality in XP from metastatic malignant melanoma and squamous cell carcinoma has been described by Horenstein and Diwan et al . [3] Mortality can be reduced by the use of isotretinoin chemoprophylaxis which prevents further development of squamous cell carcinomas. A recent clinical trial by Yarosh et al used the microbial enzyme T4 endonuclease V applied regularly as a topical liposome lotion. [6] Long-term use of this topical agent significantly reduced the onset of both new basal cell carcinomas and actinic keratoses, thus offering a ray of hope in this disease, which leaves behind intense psychological trauma and poses social and economic problems in the affected families.

Acknowledgment

We acknowledge Mr. Rajesh Patil and Dr. Sandeep Ambekar for the technical assistance provided.

References
1.
Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG. Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair. Ann Intern Med 1974;80:221-48.
[Google Scholar]
2.
Strutton G, Stenn KS. Tumours of cutaneous appendages. In : Symmers W. St C, Weedon D, editors. Systemic Pathology. The Skin. 1 st ed. Churchill Livingstone; 1992. p. 827-8.
[Google Scholar]
3.
Horenstein MG, Diwan AH. Xeroderma pigmentosum. [Last updated on 2005 June 8]. Available from: http://www.emedicine.com/DERM/topic462.htm. [Last accessed on 2007 February 12]
[Google Scholar]
4.
Mohanty P, Mohanty L, Devi BP. Multiple cutaneous malignancies in Xeroderma pigmentosum. Indian J Dermatol Venereol Leprol 2001;67:96-7.
[Google Scholar]
5.
Nash D, Kaelbling M. Chromosomal breakage syndromes. [Last updated on 2003 June 19]. Available from: http://www.emedicine.com/PED/topic2862.htm. [Last accessed on 2007 February 12]
[Google Scholar]
6.
Yarosh D, Klein J, O'Connor A, Hawk J, Rafal E, Wolf P. Effect of topically applied T4 endonuclease V in liposomes on skin cancer in Xeroderma pigmentosum: A randomized study. Xeroderma Pigmentosum Study Group. Lancet 2001;357:926-9.
[Google Scholar]

Fulltext Views
172

PDF downloads
36
Show Sections