Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage‐hair hypoplasia syndrome: A diagnostic and therapeutic challenge

Abstract

AbstractCartilage hypoplasia syndrome is a primary immunodeficiency disease characterized by short stature, hypoplastic hair and a variable degree of immunodeficiency. Noninfectious cutaneous granulomas represent an uncommon yet well‐recognized manifestation within the spectrum of primary immunodeficiency diseases. However, cutaneous granulomas as a manifestation of cartilage‐hair hypoplasia syndrome, are extremely rare. We present a case of a middle‐aged man with cartilage hypoplasia syndrome featuring cutaneous granulomas, manifesting as chronic, extensive and deep cutaneous ulcers. The patient was treated with anti‐TNF‐alpha adalimumab with partial improvement. Our case underscores the broad spectrum of clinical manifestations associated with cartilage hypoplasia syndrome and adds new evidence to the potential therapeutic efficacy of anti‐TNF‐alpha drugs in its treatment.