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Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) is a rare X-linked disease that affects the metabolism of very long-chain fatty acids (VLCFAs), leading to cognitive deterioration, progressive spastic paraplegia, sensory disturbance, adrenocortical insufficiency, and bladder and bowel abnormalities. Although the symptoms...

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Detalles Bibliográficos
Autor principal: Obara, Koji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110412/
https://www.ncbi.nlm.nih.gov/pubmed/37081902
http://dx.doi.org/10.7759/cureus.37669
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author Obara, Koji
author_facet Obara, Koji
author_sort Obara, Koji
collection PubMed
description Adrenoleukodystrophy (ALD) is a rare X-linked disease that affects the metabolism of very long-chain fatty acids (VLCFAs), leading to cognitive deterioration, progressive spastic paraplegia, sensory disturbance, adrenocortical insufficiency, and bladder and bowel abnormalities. Although the symptoms of ALD correspond to the risk of developing pressure ulcers, a pressure ulcer has never been listed as a complication of ALD. We present two cases of ALD with severe pressure ulcers in the pelvic region and feet. The first case was a 27-year-old male patient with adolescent cerebral-type ALD who had pressure ulcers with bone exposure on the sacral and bilateral greater trochanter region. The second case was a 64-year-old male patient with adrenomyeloneuropathy (AMN) phenotype who had pressure ulcers on the sacral region and both feet. Both patients had VLCFA accumulation and a likely pathogenic variant in the ABCD1 gene, the causative gene of ALD. These cases indicate that ALD patients with immobility and incontinence have a higher risk of developing severe pressure ulcers, which requires the proactive identification of ALD patients and early multidisciplinary intervention for patients and their families to prevent the development of pressure ulcers.
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spelling pubmed-101104122023-04-19 Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy Obara, Koji Cureus Dermatology Adrenoleukodystrophy (ALD) is a rare X-linked disease that affects the metabolism of very long-chain fatty acids (VLCFAs), leading to cognitive deterioration, progressive spastic paraplegia, sensory disturbance, adrenocortical insufficiency, and bladder and bowel abnormalities. Although the symptoms of ALD correspond to the risk of developing pressure ulcers, a pressure ulcer has never been listed as a complication of ALD. We present two cases of ALD with severe pressure ulcers in the pelvic region and feet. The first case was a 27-year-old male patient with adolescent cerebral-type ALD who had pressure ulcers with bone exposure on the sacral and bilateral greater trochanter region. The second case was a 64-year-old male patient with adrenomyeloneuropathy (AMN) phenotype who had pressure ulcers on the sacral region and both feet. Both patients had VLCFA accumulation and a likely pathogenic variant in the ABCD1 gene, the causative gene of ALD. These cases indicate that ALD patients with immobility and incontinence have a higher risk of developing severe pressure ulcers, which requires the proactive identification of ALD patients and early multidisciplinary intervention for patients and their families to prevent the development of pressure ulcers. Cureus 2023-04-17 /pmc/articles/PMC10110412/ /pubmed/37081902 http://dx.doi.org/10.7759/cureus.37669 Text en Copyright © 2023, Obara 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 Dermatology
Obara, Koji
Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy
title Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy
title_full Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy
title_fullStr Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy
title_full_unstemmed Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy
title_short Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy
title_sort severe pressure ulcers in two patients with adrenoleukodystrophy
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110412/
https://www.ncbi.nlm.nih.gov/pubmed/37081902
http://dx.doi.org/10.7759/cureus.37669
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