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Late Presentation of Xeroderma Pigmentosa With Squamous Cell Carcinoma in Septic Shock: Report of a Rare Case

Xeroderma pigmentosum (XP) is a rare autosomal recessive pathology affecting nucleotide excision repair against ultraviolet radiation. This leads to an increased predisposition to developing ophthalmological, neurological, and cutaneous conditions with an increased cell turnover. This case reports a...

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Autores principales: Pinto, Christopher J, Nayyar, Rajesh, Asvita, Dandamudi, Chirumamilla, Avinash, Patel, Prachi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9286006/
https://www.ncbi.nlm.nih.gov/pubmed/35855222
http://dx.doi.org/10.7759/cureus.25967
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author Pinto, Christopher J
Nayyar, Rajesh
Asvita, Dandamudi
Chirumamilla, Avinash
Patel, Prachi
author_facet Pinto, Christopher J
Nayyar, Rajesh
Asvita, Dandamudi
Chirumamilla, Avinash
Patel, Prachi
author_sort Pinto, Christopher J
collection PubMed
description Xeroderma pigmentosum (XP) is a rare autosomal recessive pathology affecting nucleotide excision repair against ultraviolet radiation. This leads to an increased predisposition to developing ophthalmological, neurological, and cutaneous conditions with an increased cell turnover. This case reports a late presentation of XP presenting with metastatic squamous cell carcinoma (SCC) and septic shock in an eight-year-old Indian male. Emergency management with IV fluid boluses and broad-spectrum antibiotics showed no improvement in vitals. Urgent surgical debridement and tumor debulking failed to improve laboratory values. Postoperative leukocytosis with fever spikes warranted the need to transfer the patient to a super-specialty oncology unit. Such an adverse presentation is commonly seen in XP-related invasive squamous cell carcinoma. Preventive management requires early identification and a multidisciplinary approach involving dermatologists, ophthalmologists, and surgeons. Late presentations revolve around control of the disease process by sharp debridement and chemotherapy with regular surveillance as the lesions tend to reoccur even after excision and chemotherapy.
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spelling pubmed-92860062022-07-18 Late Presentation of Xeroderma Pigmentosa With Squamous Cell Carcinoma in Septic Shock: Report of a Rare Case Pinto, Christopher J Nayyar, Rajesh Asvita, Dandamudi Chirumamilla, Avinash Patel, Prachi Cureus Emergency Medicine Xeroderma pigmentosum (XP) is a rare autosomal recessive pathology affecting nucleotide excision repair against ultraviolet radiation. This leads to an increased predisposition to developing ophthalmological, neurological, and cutaneous conditions with an increased cell turnover. This case reports a late presentation of XP presenting with metastatic squamous cell carcinoma (SCC) and septic shock in an eight-year-old Indian male. Emergency management with IV fluid boluses and broad-spectrum antibiotics showed no improvement in vitals. Urgent surgical debridement and tumor debulking failed to improve laboratory values. Postoperative leukocytosis with fever spikes warranted the need to transfer the patient to a super-specialty oncology unit. Such an adverse presentation is commonly seen in XP-related invasive squamous cell carcinoma. Preventive management requires early identification and a multidisciplinary approach involving dermatologists, ophthalmologists, and surgeons. Late presentations revolve around control of the disease process by sharp debridement and chemotherapy with regular surveillance as the lesions tend to reoccur even after excision and chemotherapy. Cureus 2022-06-15 /pmc/articles/PMC9286006/ /pubmed/35855222 http://dx.doi.org/10.7759/cureus.25967 Text en Copyright © 2022, Pinto et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Emergency Medicine
Pinto, Christopher J
Nayyar, Rajesh
Asvita, Dandamudi
Chirumamilla, Avinash
Patel, Prachi
Late Presentation of Xeroderma Pigmentosa With Squamous Cell Carcinoma in Septic Shock: Report of a Rare Case
title Late Presentation of Xeroderma Pigmentosa With Squamous Cell Carcinoma in Septic Shock: Report of a Rare Case
title_full Late Presentation of Xeroderma Pigmentosa With Squamous Cell Carcinoma in Septic Shock: Report of a Rare Case
title_fullStr Late Presentation of Xeroderma Pigmentosa With Squamous Cell Carcinoma in Septic Shock: Report of a Rare Case
title_full_unstemmed Late Presentation of Xeroderma Pigmentosa With Squamous Cell Carcinoma in Septic Shock: Report of a Rare Case
title_short Late Presentation of Xeroderma Pigmentosa With Squamous Cell Carcinoma in Septic Shock: Report of a Rare Case
title_sort late presentation of xeroderma pigmentosa with squamous cell carcinoma in septic shock: report of a rare case
topic Emergency Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9286006/
https://www.ncbi.nlm.nih.gov/pubmed/35855222
http://dx.doi.org/10.7759/cureus.25967
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