Clove syndrome Q85.9

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

CLOVES syndrome; Congenital lipomatous overgrowth - vascular malformation - epidermal naevi - skeletal abnormalities; Congenital lipomatous overgrowth - vascular malformation - epidermal nevi; Hemihyperplasia (multiple) lipomatosis syndrome; OMIM: 612918

History
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Friedberg Hermann 1867

Definition
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CLOVE is the acronym for a segmental overgrowth syndrome, "PIK3CA-related overgrowth spectrum" (PROS), and is characterized by the following symptoms: congenital lipomatous overgrowth, vascular malformations, epidermal nevus, skeletal anomalies.

Etiopathogenesis
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This is caused by germline mutations in the mosaic in the PIKA3Ca gene located on chromsome 3q26.32. The gene codes for the PIK3-alpha protein.

Clinical features
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Particularly typical is a trunk-stressed port wine nevus gfls. combined with venous vascular malformations

Congenital circumscribed large growth especially of the feet, which increases in the course of life. Typical is the "sandal gap".

Lipomatosis, lipomas mainly on the trunk.

Bone changes, especially scoliosis.

Epidermal nevus

Possible are asymmetry of the skull, epilepsy, hemimegalencephaly, lack of beams

Literature
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  1. Eissing M et al (2019) PTEN Hamartoma Tumor Syndrome and Immune Dysregulation. Translated Oncol 12:361-367.
  2. Pilarski R et al (2019) PTEN Hamartoma Tumor Syndrome: A Clinical Overview. Cancers (Basel)11:6

Incoming links (1)

Pik3ca Gene;

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020