A female infant with combined immunodeficiency disease and short-limbed dwarfism is described. Cutaneous abnormalities included redundant, scaly, thickened skin and progressive loss of hair, neither of which was consistent with the known types of ectodermal dysplasia. Generalized lymph node enlargement was present early in life, but spontaneous regression occurred prior to death. Initial biopsies of skin and lymph node showed a pronounced granulomatous process not previously observed in this syndrome; however, cultures and special stains failed to reveal the etiologic factor.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health