We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage‐hair hypoplasia syndrome: A diagnostic and therapeutic challenge.
- Authors
Rozas‐Muñoz, Eduardo; Blamey‐Diaz, Rodrigo; Gallardo‐Olivos, Ana Maria; Jerez, Javiera; Madariaga, Juan‐Andres
- Abstract
Cartilage 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.
- Subjects
SYMPTOMS; PRIMARY immunodeficiency diseases; ULCERS; MIDDLE-aged men; SHORT stature; HYPOPLASTIC left heart syndrome
- Publication
Australasian Journal of Dermatology, 2024, Vol 65, Issue 3, p272
- ISSN
0004-8380
- Publication type
Article
- DOI
10.1111/ajd.14258