Cloves syndrome Q85.9

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 17.05.2024

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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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CLOVES 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 PIK3Ca gene, which is located on chromosome 3q26.32. The gene codes for the PIK3-alpha protein.

Clinical features
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A trunk-accentuated port wine nevus (nevus flammeus), sometimes combined with venous vascular malformations, is particularly typical

  • Congenital circumscribed tall stature, especially of the feet, which increases in the course of life. The "sandal gap" is typical.
  • Lipomatosis, lipomas, especially on the trunk.
  • Bone changes, especially scoliosis.
  • Epidermal nevus
  • Possible asymmetry of the skull, epilepsy, hemimegalencephaly, beam deficiency

Note(s)
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Other syndromes that simulate brain overgrowth include megalencephaly-polydactyly-polymicrogyria-hydrocephalus syndrome (MPPH), in which megalencephaly occurs in association with distal limb abnormalities such as postaxial polydactyly and hydrocephalus. Another disease associated with megalencephaly and skin manifestations is Bannayan-Riley-Ruvalcaba syndrome (BRRS) (Sarma K et al. 2022).

Examples of the clinical diversity of the PIK3CA-related overgrowth spectrum (PROS) are known with overlapping features of CLOVE syndrome (Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities) and MCAP syndrome (Megalencephaly-Capillary malformation Polymicrogyria) (Denorme P et al. 2018).

Literature
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  1. Denorme P et al. (2018) Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report. Pediatr Dermatol 35:e186-e188.
  2. Eissing M et al.(2019) PTEN Hamartoma Tumor Syndrome and Immune Dysregulation. Transl Oncol 12:361-367.
  3. Pilarski R et al. (2019) PTEN Hamartoma Tumor Syndrome: A Clinical Overview. Cancers (Basel)11:6
  4. Sarma K et al. (2022) Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder. Cureus 14:e25123.

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Last updated on: 17.05.2024