A unique case of Hajdu-Cheney syndrome and squamous cell carcinoma of the anus

Brandi Page, T. Mcdonald, P. Gagnon, K. Lu, Charles R. Thomas

Research output: Contribution to journalArticle

Abstract

Objective: Hajdu-Cheney syndrome (HCS), first described in 1948 by Hajdu and independently in 1965 by Cheney, is an extremely rare disorder characterized by severe and excessive bone resorption leading to osteoporosis, with a wide range of other systemic complications from connective tissue and bone dysplasia. Currently there are approximately 50 distinct cases reported in the literature. There have been several reports associating polycystic kidneys with HCS and several other connective tissue disorders, suggesting a possibility of a hyperproliferative component to the syndrome. No articles exist in the current literature describing a case of HCS with concurrent carcinoma. Here, we present a case of a 54-year-old nonimmune compromised woman with multiple stigmata of HCS and recently diagnosed anal squamous cell carcinoma. Method: This is a case report of HCS and stage T3N0 squamous cell carcinoma of the anus. Results: This is the first report of a patient with HCS with malignancy. Conclusions: We present a patient with HCS who developed anal squamous cell carcinoma. The mechanism of HCS, which is still unknown, may either make patients more susceptible to carcinoma or may just be a reflection of the normal incidence of anal squamous cell carcinoma given attributable risk factors.

Original languageEnglish (US)
Pages (from-to)535-536
Number of pages2
JournalColorectal Disease
Volume11
Issue number5
DOIs
StatePublished - Jun 2 2009
Externally publishedYes

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Hajdu-Cheney Syndrome
Anal Canal
Squamous Cell Carcinoma
Connective Tissue
Developmental Bone Disease
Carcinoma
Christianity
Polycystic Kidney Diseases
Bone Resorption
Osteoporosis

ASJC Scopus subject areas

  • Gastroenterology

Cite this

A unique case of Hajdu-Cheney syndrome and squamous cell carcinoma of the anus. / Page, Brandi; Mcdonald, T.; Gagnon, P.; Lu, K.; Thomas, Charles R.

In: Colorectal Disease, Vol. 11, No. 5, 02.06.2009, p. 535-536.

Research output: Contribution to journalArticle

Page, Brandi ; Mcdonald, T. ; Gagnon, P. ; Lu, K. ; Thomas, Charles R. / A unique case of Hajdu-Cheney syndrome and squamous cell carcinoma of the anus. In: Colorectal Disease. 2009 ; Vol. 11, No. 5. pp. 535-536.
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