Lhermitte-Duclos disease
dysplastic gangliocytoma of the cerebellum
purkinjeoma

Patients with Lhermitte-Duclos disease and cowden's syndrome may also have multiple growths on skin.

Lhermitte-Duclos disease is a rare entity; approximately 221 cases of LDD have been reported in medical literature.

However, MeSH also includes Bannayan-Zonana syndrome and Lhermitte-Duclos disease under this description.

In Lhermitte-Duclos disease, the cerebellar cortex loses its normal architecture, and forms a hamartoma in the cerebellar hemispheres.

Other signs and symptoms of Cowden syndrome can include an enlarged head, a rare noncancerous brain tumor called Lhermitte-Duclos disease, and glycogenic acanthosis of the oesophagus.

A 2010 review of 211 patients (21 from one center, and the remaining 190 from the external literature) studied the risks for cancer and Lhermitte-Duclos disease in Cowden syndrome patients.

Like cowden syndrome, patients with Lhermitte-Duclos disease often have mutations in enzymes involved in the Akt/PKB signaling pathway, which plays a role in cell growth.

These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple trichilemmomas, papillomatous papules, and acral keratoses) and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) occurs in the setting of Cowden disease, which is associated with a germline mutation of the gene PTEN/MMAC1 (located on 10q23).

Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of the cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertrophy of the stratum granulosum of the cerebellum.

Clinical features of Cowden syndrome are diverse, including breast, endometrial, thyroid, kidney and colorectal cancers, dermatologic features such as oral and skin papillomas, trichilemmomas, gastrointestinal features such as mixed polyposis including hamartomas, and neurologic features such as Lhermitte-Duclos disease.

These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple trichilemmomas, papillomatous papules, and acral keratoses) and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) occurs in the setting of Cowden disease, which is associated with a germline mutation of the gene PTEN/MMAC1 (located on 10q23).

Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of the cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertrophy of the stratum granulosum of the cerebellum.