Radiological pleuroparenchymal fibroelastosis associated to limited cutaneous systemic sclerosis: a case report

Area of Science:

• Pulmonology
• Rheumatology
• Genetics

Background:

• Pleuroparenchymal fibroelastosis (PPFE) is a rare interstitial lung disease (ILD) affecting upper lobes.
• PPFE is associated with bone marrow/lung transplantation and telomeropathies (TERT, TERC, RTEL1 mutations).
• PPFE-like lesions have been observed in connective tissue disease (CTD)-related ILD.

Observation:

• A 46-year-old woman with limited systemic sclerosis (SSc) since 1998 presented with isolated decreased diffusing capacity of the lungs for carbon monoxide (cTLCO).
• Thoracic CT revealed mild, focal pleural and subpleural thickening in the upper lobes, consistent with PPFE.
• No telomeropathy mutations (TERT, TERC) were detected, and the patient remained clinically stable with an indolent disease course.

Findings:

• This is the first reported case of isolated PPFE in a patient with systemic sclerosis (SSc).
• The patient's PPFE was not linked to known telomeropathy-causing gene mutations.
• The condition exhibited an indolent clinical course over 8 years of follow-up.

Implications:

• PPFE may represent an extremely rare form of SSc-related ILD.
• This case expands the known associations of PPFE beyond telomeropathies.
• Further research is needed to clarify the relationship between SSc and PPFE, considering the possibility of fortuitous association.