Abstract
Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in young children. Other mucocutaneous symptoms, for example, trichilemmomas in the nasolabial folds and palmar and plantar hyperkeratotic pits, usually become evident later in childhood. They are often accompanied by the appearance of subcutaneous lipomas and cutaneous haemangiomas.
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- Carlson H. E., Burns T. W., Davenport S. L., Luger A. M., Spence M. A., Sparkes R. S., Orth D. N. Cowden disease: gene marker studies and measurements of epidermal growth factor. Am J Hum Genet. 1986 Jun;38(6):908–917. [PMC free article] [PubMed] [Google Scholar]
- Gentry W. C., Jr, Eskritt N. R., Gorlin R. J. Multiple hamartoma syndrome (Cowden disease). Arch Dermatol. 1974 Apr;109(4):521–525. [PubMed] [Google Scholar]
- Gorensek M., Matko I., Skralovnik A., Rode M., Satler J., Jutersek A. Disseminated hereditary gastrointestinal polyposis with orocutaneous hamartomatosis (Cowden's disease). Endoscopy. 1984 Mar;16(2):59–63. doi: 10.1055/s-2007-1018534. [DOI] [PubMed] [Google Scholar]
- Hanssen A. M., Werquin H., Suys E., Fryns J. P. Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations. Clin Genet. 1993 Dec;44(6):281–286. doi: 10.1111/j.1399-0004.1993.tb03901.x. [DOI] [PubMed] [Google Scholar]
- LLOYD K. M., 2nd, DENNIS M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. 1963 Jan;58:136–142. doi: 10.7326/0003-4819-58-1-136. [DOI] [PubMed] [Google Scholar]
- Padberg G. W., Schot J. D., Vielvoye G. J., Bots G. T., de Beer F. C. Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol. 1991 May;29(5):517–523. doi: 10.1002/ana.410290511. [DOI] [PubMed] [Google Scholar]
- Sogol P. B., Sugawara M., Gordon H. E., Shellow W. V., Hernandez F., Hershman J. M. Cowden's disease: familial goiter and skin hamartomas. A report of three cases. West J Med. 1983 Sep;139(3):324–328. [PMC free article] [PubMed] [Google Scholar]
- Starink T. M., van der Veen J. P., Arwert F., de Waal L. P., de Lange G. G., Gille J. J., Eriksson A. W. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet. 1986 Mar;29(3):222–233. doi: 10.1111/j.1399-0004.1986.tb00816.x. [DOI] [PubMed] [Google Scholar]
- Weary P. E., Gorlin R. J., Gentry W. C., Jr, Comer J. E., Greer K. E. Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol. 1972 Nov;106(5):682–690. [PubMed] [Google Scholar]