• | mostly X-linked recessive (therefore males); presents in first decade |
clinical:
1. | poikiloderma that results in reticulate hyperpigmentation |
2. | pterygium, atrophic, or absent nails (may be misdiagnosed as twenty nail dystrophy) |
3. | premalignant leukoplakia of tongue, buccal mucosa |
• | second decade – Fanconi type pancytopenia therefore look for potential bone marrow donor as soon as diagnosis is made (with secondary infection, hemorrhage) |
• | third decade – malignant neoplasms |
• | palmoplantar keratoderma |
• | prognosis: death in 20-30% secondary to malignancy (usually SCC), GI hemorrhage, or opportunistic infection |
• | only potential long-term treatment option = bone marrow transplant |
• | ddx: Fanconi’s syndrome, chronic GVHD, Rothmund-Thompson syndrome, Pachyonychia Congenita |
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