Keerthi Vardhan Yerram MD DM
Assistant Professor, Department of Clinical Immunology and Rheumatology, NIMS, Hyderabad
A 21-year-old female presented with a 4-year history of progressive alopecia localised to the right frontoparietal scalp, subsequently followed by cutaneous and subcutaneous atrophy in the same region. Two years later, she developed ipsilateral facial hemiatrophy, characterised by a gradual loss of volume and tissue wasting on the right side of her face. Notably, she remained free from neurological manifestations, including seizures and visual disturbances.
Question: What is the diagnosis?
A 9-year-old girl, born of a consanguineous marriage, presented with progressive finger flexion deformities and swelling of wrists, knees, and ankles since age four. She was previously diagnosed with polyarticular JIA and treated with multiple DMARDs and biologics without response. Re-evaluation at our centre revealed non-inflammatory joint swelling, camptodactyly, restricted movements without tenderness, and radiologic coxa vara.
Question: What is the diagnosis?
Case 1 Answer : Based on the clinical presentation and progression of symptoms, a diagnosis of Parry-Romberg syndrome (PRS) was established. PRS is a rare and distinct form of localised scleroderma (morphea) characterised by progressive hemifacial atrophy, often accompanied by cutaneous, subcutaneous, and, at times, underlying tissue involvement.
Case 2 Answer : Genetic analysis identified a homozygous PRG4 c.619del (p.Arg207GlufsTer13) variant, confirming Camptodactyly–Arthropathy–Coxa Vara–Pericarditis (CACP) syndrome. This case explains the importance of distinguishing non-inflammatory arthropathy from JIA, especially in refractory cases with atypical pain.
