Literature DB >> 30992739

Xeroderma Pigmentosum - a disfiguring disease: Single patient with 5 simultaneous tumors on face.

Muhammad Usman Shams1, Raees Abbas Lail1, Ehsan Ullah1, Abdul Hannan Nagi1.   

Abstract

Xeroderma pigmentosum is an uncommon inherited autosomal recessive disorder. Affected patients have a 2000-fold amplified risk of skin cancer. There is an inability to repair the damage to genetic material caused by ultraviolet light. Basal cell carcinoma is the most commonly associated carcinoma followed by squamous cell carcinoma and melanoma. It is a highly mutilating disorder where occurrence of multiple cancers and repeated surgical treatments result in serious psycho-social implications. We present a case of diagnosed xeroderma pigmentosum in a 25 year old male who presented with multiple lesions and non-healing ulcers on face. Four surgical specimens from left lower eyelid, chin, right cheek and upper lip were taken for histopathological diagnosis. Microscopic examination revealed five different tumors from biopsies of these sites - specimen from right cheek revealed two morphologically distinct tumors. The tumors include basosquamous carcinoma, nodular basal cell carcinoma, adenoid basal cell carcinoma, malignant melanoma and cavernous hemangioma.

Entities:  

Keywords:  Xeroderma pigmentosum; basal cell carcinoma; cavernous hemangioma; malignant melanoma; squamous cell carcinoma

Year:  2014        PMID: 30992739      PMCID: PMC6451755          DOI: 10.5001/omj.2014.64

Source DB:  PubMed          Journal:  Oman Med J        ISSN: 1999-768X


  12 in total

1.  Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.

Authors:  Yuko Hirai; Yoshiaki Kodama; Shin-Ichi Moriwaki; Asao Noda; Harry M Cullings; Donald G Macphee; Kazunori Kodama; Kiyohiko Mabuchi; Kenneth H Kraemer; Charles E Land; Nori Nakamura
Journal:  Mutat Res       Date:  2006-08-14       Impact factor: 2.433

2.  Pilomatricoma in a case of familial xeroderma pigmentosum.

Authors:  Meenal R Patil; Vishalakshi Vishwanath; Manoj Arya; B P Shenoy; R N Bharmal; R G Torsekar
Journal:  Indian J Dermatol Venereol Leprol       Date:  2007 May-Jun       Impact factor: 2.545

Review 3.  Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.

Authors:  K H Kraemer; N J Patronas; R Schiffmann; B P Brooks; D Tamura; J J DiGiovanna
Journal:  Neuroscience       Date:  2007-02-01       Impact factor: 3.590

4.  The genetics of the hereditary xeroderma pigmentosum syndrome.

Authors:  Anne Stary; Alain Sarasin
Journal:  Biochimie       Date:  2002-01       Impact factor: 4.079

5.  Incidence of xeroderma pigmentosum in Larkana, Pakistan: a 7-year study.

Authors:  A M Bhutto; A Shaikh; S Nonaka
Journal:  Br J Dermatol       Date:  2005-03       Impact factor: 9.302

Review 6.  The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors.

Authors:  Leela Daya-Grosjean; Alain Sarasin
Journal:  Mutat Res       Date:  2005-01-25       Impact factor: 2.433

7.  Xeroderma pigmentosum in four siblings with three different types of malignancies simultaneously in one.

Authors:  Mohammed El-Hayek; Giles G Lestringant; Philippe M Frossard
Journal:  J Pediatr Hematol Oncol       Date:  2004-08       Impact factor: 1.289

8.  Multiple cutaneous malignancies in xeroderma pigmentosum.

Authors:  P Mohanty; L Mohanty; B P Devi
Journal:  Indian J Dermatol Venereol Leprol       Date:  2001 Mar-Apr       Impact factor: 2.545

9.  Xeroderma pigmentosa--a disfiguring disease.

Authors:  D W Eugene; K D Joshi
Journal:  Kathmandu Univ Med J (KUMJ)       Date:  2006 Jan-Mar

10.  Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

Authors:  Wim J Kleijer; Vincent Laugel; Mark Berneburg; Tiziana Nardo; Heather Fawcett; Alexei Gratchev; Nicolaas G J Jaspers; Alain Sarasin; Miria Stefanini; Alan R Lehmann
Journal:  DNA Repair (Amst)       Date:  2008-03-10
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  1 in total

Review 1.  Xeroderma pigmentosum: an updated review.

Authors:  Alexander Kc Leung; Benjamin Barankin; Joseph M Lam; Kin Fon Leong; Kam Lun Hon
Journal:  Drugs Context       Date:  2022-04-25
  1 in total

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