Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome
Classification and external resources
OMIM	153480
DiseasesDB	31337
MeSH	D006223

Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.^[1]^[2] The disease is inherited in an autosomal dominant form, but sporadic cases have been reported. The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome. Collectively, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes (PHTS).

Signs and symptoms

Bannayan-Riley-Ruvalcaba syndrome is characterized by an enlarged head, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present.

The head enlargement is symmetrical, and does not cause widening of the ventricles or raised intracranial pressure.

These patients have a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTEN).

Up to 30% of the patients have thyroid involvement consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, or Hashimoto's thyroiditis. Most lesions are slowly growing and easily resectable. Visceral as well as intracranial involvement may occur in rare cases, and can cause bleeding and symptomatic mechanical compression, especially of the spinal cord or spinal nerve roots. This may require surgical resection.

Etymology

The syndrome combines Bannayan–Zonana syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–Smith syndrome.^[3] Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana.^[4]^[5]^[6] Riley–Smith syndrome was named for Harris D. Riley, Jr. and William R. Smith.^[7] Ruvalcaba–Myhre–Smith syndrome is named for S. Myhre, Rogelio H. A. Ruvalcaba and David Weyhe Smith.^[8]

References

↑ Buisson P, Leclair MD, Jacquemont S; et al. (September 2006). "Cutaneous lipoma in children: 5 cases with Bannayan–Riley–Ruvalcaba syndrome". J. Pediatr. Surg. 41 (9): 1601–3. doi:10.1016/j.jpedsurg.2006.05.013. PMID 16952599.
↑ Gujrati M, Thomas C, Zelby A, Jensen E, Lee JM (August 1998). "Bannayan–Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature". Surg Neurol 50 (2): 164–8. doi:10.1016/S0090-3019(98)00039-1. PMID 9701122.
↑ Hannigan, Steve, ed. (2007). Inherited Metabolic Diseases: A Guide to 100 Conditions. Radcliffe Publishing. p. 101. ISBN 1-84619-099-1.
↑ synd/1276 at Who Named It?
↑ Bannayan GA (July 1971). "Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome". Arch Pathol 92 (1): 1–5. PMID 5091590.
↑ Zonana J, Rimoin DL, Davis DC (October 1976). "Macrocephaly with multiple lipomas and hemangiomas". J. Pediatr. 89 (4): 600–3. doi:10.1016/S0022-3476(76)80397-6. PMID 957004.
↑ synd/1731 at Who Named It?
↑ synd/1275 at Who Named It?

External links

GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS)

Phakomatosis (Q85, 759.5–759.6)

Neurofibromatosis	Type I Type II

Angiomatosis	Sturge–Weber syndrome Von Hippel–Lindau disease

Hamartoma	Tuberous sclerosis Hypothalamic hamartoma (Pallister–Hall syndrome) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease

Other	Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein	Neurofibromatosis type I Watson syndrome Tuberous sclerosis

Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1

G protein

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2

Monomeric	RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF: SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3

MAP kinase

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase	BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency

Serine/threonine kinase	RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4/WNK1 Pseudohypoaldosteronism 2

Tyrosine phosphatase	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Signal transducing adaptor proteins

Other

NF2
- Neurofibromatosis type II
NOTCH3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

See also intracellular signaling peptides and proteins

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