Abstract
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.
Original language | English (US) |
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Pages (from-to) | 1010-1017 |
Number of pages | 8 |
Journal | The Journal of pediatrics |
Volume | 80 |
Issue number | 6 |
DOIs | |
State | Published - Jun 1972 |
Externally published | Yes |
Funding
Supported by grants/tom the United States Public Health Service (AM-10318) and the Chicago and Illinois Heart Associations (C-70-14).
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health