Article ; Online: Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge.
The Australasian journal of dermatology
2024
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 ... ...
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. |
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Language | English |
Publishing date | 2024-03-27 |
Publishing country | Australia |
Document type | Journal Article |
ZDB-ID | 138052-7 |
ISSN | 1440-0960 ; 0004-8380 |
ISSN (online) | 1440-0960 |
ISSN | 0004-8380 |
DOI | 10.1111/ajd.14258 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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