Multiple hamartoma syndrome is a syndrome characterized by more than one hamartoma.[1]: 673
It is sometimes equated with Cowden syndrome. However, MeSH also includes Bannayan–Zonana syndrome (that is, Bannayan–Riley–Ruvalcaba syndrome) and Lhermitte–Duclos disease under this description. Some articles include Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and at least some forms of Proteus syndrome and Proteus-like syndrome under the umbrella term PTEN hamartoma tumor syndromes (PHTS).
^James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
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Multiplehamartomasyndrome is a syndrome characterized by more than one hamartoma.: 673 It is sometimes equated with Cowden syndrome. However, MeSH also...
Cowden syndrome (also known as Cowden's disease and multiplehamartomasyndrome) is an autosomal dominant inherited condition characterized by benign overgrowths...
towards malignancies. Hamartomas are usually caused by a genetic syndrome that affects the development cycle of all or at least multiple cells. Many of these...
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genetic testing. Bilateral kidney hamartomas with or without nephroblastomatosis are commonly observed. Perlman syndrome is caused by mutations in the DIS3L2...
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visual field. Tuber cinereum hamartoma may be associated with Pallister–Hall syndrome, a diagnosis characterized by multiple malformations, including polydactyly...
syndrome but are actually affected with Cowden syndrome or other phenotypes of the PTEN hamartoma tumor syndrome. Mutations in SMAD4 may be additionally associated...
formation of hamartia (malformed tissue such as the cortical tubers), hamartomas (benign growths such as facial angiofibroma and subependymal nodules)...
manifestations are variable but may include hyperpigmented skin marks, hamartomas of the iris called Lisch nodules, neurofibromas, optic pathway gliomas...
gene responsible for nevoid basal cell carcinoma syndrome. The diagnosis of basaloid follicular hamartoma lesions requires a histopathological investigation...
delay Features common in neurofibromatosis – like Lisch nodules (iris hamartomas diagnosed on slit lamp exam), bone abnormalities, neurofibromas, optic...
in as many as 90% of patients during childhood. Lisch nodules (benign hamartomas of the iris) are seen in almost all patients but they do not cause any...
Castleman disease (also known as giant lymph node hyperplasia, lymphoid hamartoma, or angiofollicular lymph node hyperplasia), a group of lymphoproliferative...
Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of neurofibromin 1 (NF-1)...
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