Angioma, Hereditary Neurocutaneous

Clinical Features

Zaremba et al. (1979) reported 4 affected persons in 3 generations, including a father and his 2 sons. One patient died at age 28 of multiple dilated thin-walled vessels in the cerebral substance; an extensive, irregularly shaped, pink hemangioma planum, which faded on pressure, was present on the skin of the left shoulder, arm and forearm. His brother developed left hemiparesis at age 13 and died at age 19 after an unsuccessful attempt was made to resect a spinal angioma in the C6-T1 region (producing the Horner syndrome and the Brown-Sequard syndrome). He had an angioma in the left frontotemporal area and a second over the right mastoid process. Their father developed left hemiparesis at age 58 and had episodes of urinary and gastrointestinal bleeding. Angiomas were present on the chest and left thigh. A daughter of the oldest of his sons (who died at age 28) had 3 angiomas in the lumbosacral area and 1 on the left palm. None of the patients had retinal angiomas or telangiectases typical of Osler-Rendu-Weber syndrome. The involvement of the central nervous system resembled that in the Icelandic family reported by Kidd and Cumings (1947) but that family had no skin angiomas.

Burke et al. (1964) described 2 unrelated infants with a large number of small hemangiomata in many areas of the skin and also in the brain.

Kaplan et al. (1976) described a 16-month-old girl with cutaneomeningospinal angiomatosis leading to paraplegia because of intraspinal AV malformation. Skin hemangiomas occurred in 3 generations of the family (with no instance of male-to-male transmission). Hemangioma of the skin in the same dermatome as the symptoms of a space-occupying spinal lesion can be a clue to early diagnosis of the nature of the latter.

Foo et al. (1980) reported the case of a 33-year-old man who developed cervical anterior cord syndrome from spontaneous bleeding of an arteriovenous malformation in the cervical epidural space. Follow-up (Foo et al., 1980) revealed cutaneous vascular malformations in 3 generations. The proband's mother had 4 hemangiomas removed (from the neck, back, right thigh and face). A maternal aunt had a left ankle hemangioma removed at age 20. One of his younger sisters had a hemangioma resected from the right shoulder at age 15 and another from the pelvis at 31. This sister passed the gene to her 2 sons; one son had a hemangioma removed from the forehead at age 2, and the other had a hemangioma removed from the left side of the head at age 3. The proband's brother had a hemangioma removed from above the right ear at age 10.

Hurst and Baraitser (1988) reported 2 families with this disorder. In 1 family there was father-to-son transmission; the father had cutaneous hemangiomata of the nose, arm, and trunk, and the son had a temporal lobe arteriovenous malformation. Four generations and 5 individuals were affected in the other family. Although the evidence is not ironclad, this syndrome of hereditary neurocutaneous angioma is probably distinct from familial cavernous malformations of the CNS and retina (116860).