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Updated: Jun 9, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Rare interstitial lung diseases: a narrative review.

Karina Portillo Carroz^1,2,3,4, Blanca Urrutia-Royo⁵, Antonio Marin¹

¹Pulmonology Department, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.

Journal of Thoracic Disease

|October 24, 2024

Summary

This review details poorly recognized interstitial lung diseases (ILDs), including rare idiopathic pneumonias and genetic disorders. Early recognition and further research are crucial for improved diagnosis and management of these challenging conditions.

Keywords:

Hermansky-Pudlak syndrome (HPS)Rare idiopathic interstitial pneumonias acute fibrinous organizing pneumonia (AFOP)granulomatous-lymphocytic interstitial lung disease (GLILD)

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Area of Science:

Pulmonology
Rare Diseases
Interstitial Lung Diseases

Background:

Interstitial lung diseases (ILDs) comprise over 200 conditions, with increasing interest in fibrosing ILDs due to new therapies.
Less common ILDs often have a poor prognosis and require deeper understanding.
This review focuses on under-recognized ILDs, offering a practical overview.

Purpose of the Study:

To provide an updated description of poorly recognized interstitial lung diseases.
To cover rare idiopathic interstitial pneumonias, genetic disorders affecting the lungs, and ILDs linked to benign lymphoid tissue proliferation.
To highlight key aspects of epidemiology, clinical presentation, diagnosis, natural history, and treatment.

Main Methods:

A narrative review methodology was employed.
Searches were conducted on PubMed and Google Scholar using specific keywords.
Relevant articles including reviews, case series, guidelines, and books were screened, limited to English and Spanish publications.

Main Results:

Improved recognition of radiological and pathological patterns aids in characterizing these rare ILDs.
Key aspects such as epidemiology, clinical presentation, diagnosis, natural history, and treatment are discussed.
The review covers rare idiopathic interstitial pneumonias, Hermansky-Pudlak syndrome, follicular bronchiolitis, and granulomatous-lymphocytic interstitial lung disease.

Conclusions:

Lesser-studied ILDs pose diagnostic and therapeutic challenges, often leading to misdiagnosis.
The absence of randomized controlled trials limits established therapeutic options.
Further research and registries are essential for enhancing accurate diagnosis and management of these rare conditions.