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

Australas J Dermatol. 2024 May;65(3):272-275. doi: 10.1111/ajd.14258. Epub 2024 Mar 27.

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.

Keywords: cartilage hair hypoplasia syndrome; immunodeficiency; ulcers.

Publication types

  • Case Reports

MeSH terms

  • Adalimumab* / therapeutic use
  • Granuloma* / drug therapy
  • Hair* / abnormalities
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / diagnosis
  • Humans
  • Hypotrichosis / diagnosis
  • Male
  • Middle Aged
  • Osteochondrodysplasias* / complications
  • Osteochondrodysplasias* / congenital
  • Osteochondrodysplasias* / diagnosis
  • Primary Immunodeficiency Diseases* / complications
  • Primary Immunodeficiency Diseases* / diagnosis
  • Skin Ulcer* / drug therapy
  • Skin Ulcer* / etiology

Supplementary concepts

  • Cartilage-hair hypoplasia