Genuine diffuse phlebectasia, Bockenheimer Q85.8

Bockenheimer's disease is a venous malformation that affects most of the length of an extremity and affects all tissue levels from skin to bone. This progressive disease causes significant morbidity, including pain, swelling, discoloration, ulceration, bleeding, localized intravascular coagulopathy, pathologic fractures, and functional limitations (Kubiena et al 2006). In a small series of nine individuals with Bockenheimer's disease, the TEK gene variant c.2740C>T (p.Leu914Phe) was identified in all affected individuals (Ali et al 2020).

The venous malformation is first detected at birth or in the first years of life.

The treatment includes an adapted compression garment.

Sclerotherapy (27.5 percent) and resection of symptomatic areas (35 percent of patients) are also reported in the literature. After resection, one or more complications occurred in 17 patients (60 percent): hematoma, wound dehiscence, flap loss, contracture and psychosis. Symptoms improved in all patients with useful functional results.

It is known that heterozygous pathogenic germline variants with loss of function in TEK are associated with primary congenital glaucoma.

It can be assumed that phlebectasia genuine diffuse, Bockenheimer is synonymous with Servelle-Martorell syndrome.

1. Ali B et al. (2020) Diffuse venous malformations of the upper extremity (Bockenheimer disease): diagnosis and management. Plast Reconstr Surg 146:1317-1324.
2. Inaraja Pérez GC et al. (2021) Images in vascular medicine: a case of Bockenheimer's syndrome (genuine diffuse phlebectasia). Vasc Med 17:125-127.
3. Kubiena HF et al. (2006) Genuine diffuse phlebectasia of Bockenheimer: dissection of an eponym. Pediatr Dermatol 23:294-297.
4. Osawa R et al. (2007) A case of Bockenheimer's syndrome (genuine diffuse phlebectasia): venous involvement inside muscles was detected by magnetic resonance imaging. Clin Exp Dermatol 32:664-667.
5. van Geest AJ et al (1999) Bockenheimer's syndrome. J Eur Acad Dermatol Venereol 12:165-168.