Blue rubber bleb nevus syndrome Q87.8

Very rare (about 200 cases in world literature), autosomal dominant inherited, but also sporadically occurring, androtropic vascular malformation with multiple angiomas of the skin and various internal organs. Predominantly blind courses, very rarely fulminant or fatal forms.

The autonomy as an entity is doubted by some authors because of the clinical consistency with generalized glomangiomatosis despite different histology and etiology.

Mutations in the TEK gene (VMCM, TEK-TIE2 gene), which is mapped on gene locus 9q21, with consecutive disruption of the receptor tyrosine kinase TIE-2.

On the whole integument, also on the oral mucosa (hard palate, cheek mucosa).

Integument: A few or up to more than 100 differently sized, blue-black, subcutaneous or cutaneous, sharply defined papules or nodules (size 0.8-1.5 cm) of soft to rubbery (naming!) consistency. Sometimes the papules can be completely compressed. Occasional focal bleeding possible.

Oral mucosa: Angiomatous lesions are possible on the hard palate as well as in the buccal mucosa.

Extracutaneous manifestations: Frequent angiomas in the gastrointestinal tract (especially stomach, intestines) with risk of bleeding. Angiomas in the liver, spleen, gall bladder, kidney, pleura, lungs, CNS and musculature have been described (mostly asymptomatic, only detected during extensive diagnostics).

No known causal therapies.

Clarification of mainly gastrointestinal organ involvement; regular monitoring and, if necessary, symptomatic surgical treatment in collaboration with surgeons and internists.

An individual case report exists on the use of "low-dose sirolimus" as an antiangiogenic principle. This includes regression of existing intestinal bleeding.

Skin lesions can be removed surgically or by laser if necessary. Good experiences have been made with cryosurgery.

1. Apak H et al (2004) Blue rubber bleb nevus syndrome (BRBNS) associated with consumption coagulopathy: treatment with interferon. Dermatology 208: 345-348
2. Bean WB (1958) Vascular spiders and related lesions of the skin. Charles C. Thomas (ed.), Springfield (IL), pp. 178-185
3. Bedocs PM et al (2003) Blue rubber-bleb nevus syndrome: a case report. Cutis 71: 315-318
4. Gaskoyen G (1860) Case of naevus involving the parotid gland, and causing death from suffocation: neavi of the viscera. Transactions of the Pathological Society of London 11: 267
5. Kirkorian AY et al.(2016) Genetic basis for vascular anomalies. Semin Cutan Med Surg 35:128-136.
6. Moser CM et al.(2012) Successful treatment of cutaneous venous malformations in a patient with blue rubber bleb naevus syndrome by Nd:YAG laser. Br J Dermatol 66:1143-1145
7. Rice JS et al (1962) Blue rubber bleb nevus syndrome. Arch Dermatol 86: 503-511
8. Yuksekkaya H et al (2012) Blue rubber bleb nevus syndrome: successful treatment with sirolimus. Pediatrics 129: 1080-1084