Triphalangeal thumbs (TrTh) have been linked with 3 syndromes involving bone marrow dysfunction: Fanconi pancytopenia and Blackfan-Diamond (both autosomal recessive) and Aase-Smith (? X-linked recessive). The present patient may represent a 4th such association, since the combination of findings is novel.
Studies have been made on an 18 8/12 year old girl with TrTh who showed cafŕ au lait skin lesions and acute lymphocytic leukemia. Heart is normal. Her first symptoms were fatigue and anemia (Hgb. 9.9 gm%; Hct. 29.9%) which improved on iron and Imferon therapy. Subsequent studies revealed a hvpercellular bone marrow consistent with acute lymphocytic leukemia. There was 86% blasts which were Sudan black B negative and PAS positive. At this time peripheral blood was essentially normal, including platelets. Cytogenetic analysis of bone marrow cells showed two main cell lines: one with 46, XX karyotype and the other with a wide range of distribution (between 48 and 97). The latter cell line is believed to be derived from malignant bone marrow cells. There appeared to be no increase in chromosome breaks, nor were examples of quadriradial figures or endoreduplication seen.
The kindred has 7 persons in 4 generations with abnormal thumbs (2 with polydactyly). Pattern is autosomal dominant. The proposita's father (affected) died at a relatively young age of “cancer”, and one of her affected aunts had “anemia”.
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Gardner, L., Cass, D. & Kajii, T. ASSOCIATION OF TRIPHALANGEAL THUMBS, CAFE AU LAIT SPOTS AND LEUKEMIA. Pediatr Res 11, 455 (1977). https://doi.org/10.1203/00006450-197704000-00513