Xeroderma pigmentosum: a review and case series

Butt, Fawzia; Moshi, Jeremiah R.; Owibingire, Sira Stanslaus; Chindia, ML

doi:10.1016/j.jcms.2010.02.006

Cited by 41 publications

(33 citation statements)

References 11 publications

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“…[3] All the patients had lesions involving the head and neck region and were from a rural background in our study without awareness of photo-protective measures like protective clothing, eyewear or use of sunscreen lotions.…”

Section: Discussionmentioning

confidence: 99%

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Histological types of oculocutaneous malignancies in hereditary genodermatoses

Chatura¹,

Archana²,

Kusagur³

2016

JMRPS

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Background: Hereditary genodermatoses are characterized by propensity to develop malignancies in cutaneous and ocular structures. Objective: To document in a series of patients with oculocutaneous albinism and xeroderma pigmentosa the histological spectrum of malignant oculocutaneous tumors. Materials and Methods: Biopsies from 6 patients were subjected to histopathological examination for tumor type. Results: A diagnosis of basosquamous cell carcinoma (BSCC) was made in 3 cases, basal cell carcinoma (face) and BSCC (neck) in one, ocular surface squamous neoplasia and SCC in one case each. Conclusion: In the background of genodermatoses, importance of regular and careful follow-up to detect and treat malignancies at an early stage is needed.

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Section: Discussionmentioning

confidence: 99%

“…Commonly encountered neoplasms include SCC, BCC, rarely malignant melanoma which develops at a younger age when compared to patients of BCC without any predisposing genetic diseases. [1][2][3][4] …”

Section: Introductionmentioning

confidence: 99%

Histological types of oculocutaneous malignancies in hereditary genodermatoses

Chatura¹,

Archana²,

Kusagur³

2016

JMRPS

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“…PG is a common skin and mucosal vascular hyperplasia typically related to local trauma and not to UV exposure. PG are not frequently reported to be more common in individuals with XP, although Kraemer and Slor refer to “small angiomata on sun‐exposed areas including face, lips, and tip of the tongue.” Butt et al observed labial and tongue PGs in patients with XP, and Khatri et al describe two children with “hemangiomas” at the tongue tip. Three of our patients developed PGs on the distal tongue; patient 3 had three additional histologically confirmed PGs at the same location during follow‐up and patient 1 developed a PG some months before presenting with an SCC at the same site.…”

Section: Discussionmentioning

confidence: 99%

An Atrophic, Telangiectatic Patch at the Distal Border of the Tongue: A Mucous Membrane Manifestation of Xeroderma Pigmentosum

Bologna

Teshima

Lourenço

et al. 2014

Pediatric Dermatology

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Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by clinical and cellular sensitivity, pigmentary changes, and early development of malignancies in sun-exposed mucocutaneous and ocular structures due to a defective ability to repair intracellular DNA damage. Individuals with XP also have a greater frequency of oral cancer, particularly squamous cell carcinoma of the anterior third of the tongue. The current study reports four cases of XP that exhibited a characteristic crescent-shaped, atrophic, telangiectatic area on the distal border of the tongue and correlates this lesion with the development of tumors at this site during follow-up. The tongue lesion was photographed and biopsied in the four patients. During routine follow-up visits, new biopsies were performed if additional tongue lesions were observed. The studied lesions were similar in the four patients. During follow-up, squamous cell carcinoma developed in one patient and pyogenic granuloma developed in three patients and was relapsing in one. The lesion remained stable in one patient during the study. The atrophic and telangiectatic patches probably occur because of chronic sun damage to the exposed portion of the tongue, and this area has a high predisposition for the development of benign and malignant tumors.

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“…The aetiology of nasal septal perforations includes nasal septal surgery, epistaxis, cryotherapy, nose picking, nasotracheal intubation, nasal fractures, penetrate injuries, septal haematoma, nasal tampons, chemical irritants, nasal sprays including vasoconstrictor agents and steroids, cocaine, neoplastic diseases and midline granulomatous diseases, vasculitis, Wegener's granulomatosis, sarcoidosis, syphilis, tuberculosis, typhus, diphtheria, leprosy, rhinosclerosis, fungal diseases (Ulnick and Perkins, 2001;Merkonidis et al, 2005;Wanyura et al, 2006;Andre et al, 2006;Dosen and Haye, 2007;Eloy et al, 2007;Butt et al, 2010). Nasal findings in CD may be chronic mucosal inflammation, nasal obstruction, epistaxis, and rarely septal perforation (Kriskovich et al, 2000;Kryssia and Henry, 2006;Sari et al, 2007).…”

Section: Discussionmentioning

confidence: 99%