Pulmonary Manifestations of Skin Disorders in Children

Cohen, Bernard A.; Turcios, Nelson L.

doi:10.1016/j.pcl.2020.09.009

Cited by 4 publications

(2 citation statements)

References 52 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Visceral AVMs, such as brain AVMs, can lead to complications, such as hemorrhagic strokes and seizures [ 128 ]. Brain AVMs may also lead to motor weakness and aphasia [ 129 ]. A less common form of HHT is one with mutations within SMAD4, in which a patient subsequently exhibits traits of both HHT and juvenile polyposis syndrome [ 130 ].…”

Section: Osler-weber-rendu Syndromementioning

confidence: 99%

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Kioutchoukova,

Foster,

Thakkar

et al. 2024

JCM

View full text Add to dashboard Cite

Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion of the genetic and clinical involvement of neurocutaneous disorders, and examines clinical management and treatment options. With the current advances in genetics, the role of precision medicine and targeted therapy play a substantial role in addressing the management of these conditions. The interconnectedness between therapeutic options highlights the importance of precision medicine in treating each disorder’s unique molecular pathway. This review provides an extensive synthesis of ongoing and current therapeutics in the management of such clinically unique and challenging conditions.

show abstract

Section: Osler-weber-rendu Syndromementioning

confidence: 99%

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Kioutchoukova,

Foster,

Thakkar

et al. 2024

JCM

View full text Add to dashboard Cite

show abstract

“…Although DC is a multisystem disorder, patients typically present with nail dystrophy, changes in skin pigmentation, and oral leukoplakia. Many conditions with prominent cutaneous findings also have significant pulmonary manifestations 16 and ~20% of DC patients develop usual interstitial pneumonia which is a form of pulmonary fibrosis (reviewed in Reference 17 ). Like IPF and COPD, fibrotic lesions in DC involve both the bronchial and alveolar regions.…”

Section: Introductionmentioning

confidence: 99%

Repeated Injury Promotes Tracheobronchial Tissue Stem Cell Attrition

Ghosh

Hill

Alsudayri

et al. 2021

Stem Cells Translational Medicine

View full text Add to dashboard Cite

Chronic lung disease has been attributed to stem cell aging and/or exhaustion. We investigated these mechanisms using mouse and human tracheobronchial tissue-specific stem cells (TSC). In mouse, chromatin labeling and flow cytometry demonstrated that naphthalene (NA) injury activated a subset of TSC. These activated TSC continued to proliferate after the epithelium was repaired and a clone study demonstrated that $96% of activated TSC underwent terminal differentiation. Despite TSC attrition, epithelial repair after a second NA injury was normal. The second injury accelerated proliferation of previously activated TSC and a nucleotide-label retention study indicated that the second injury recruited TSC that were quiescent during the first injury. These mouse studies indicate that (a) injury causes selective activation of the TSC pool; (b) activated TSC are predisposed to further proliferation; and (c) the activated state leads to terminal differentiation. In human TSC, repeated proliferation also led to terminal differentiation and depleted the TSC pool. A clone study identified long-and shortlived TSC and showed that short-lived TSC clones had significantly shorter telomeres than their long-lived counterparts. The TSC pool was significantly depleted in dyskeratosis congenita donors, who harbor mutations in telomere biology genes. The remaining TSC had short telomeres and short lifespans. Collectively, the mouse and human studies support a model in which epithelial injury increases the biological age of the responding TSC. When applied to chronic lung disease, this model suggests that repeated injury accelerates the biological aging process resulting in abnormal repair and disease initiation.K E Y W O R D S airway epithelial stem cell, basal cell, biological aging, chronic lung disease Significance statementResults of the present study identify biological aging as an important aspect of tracheobronchial tissue-specific stem cell phenotype and function and one that could impact the development of chronic lung disease.

show abstract

Skin and Lacrimal Drainage System

Yanoff,

Sassani

2025

Ocular Pathology

View full text Add to dashboard Cite

Pulmonary Manifestations of Skin Disorders in Children

Cited by 4 publications

References 52 publications

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Repeated Injury Promotes Tracheobronchial Tissue Stem Cell Attrition

Skin and Lacrimal Drainage System

Contact Info

Product

Resources

About