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Literature DB >> 168320

Tuberous sclerosis and Klippel-Trenaunay-Weber syndromes. Association of two complete phakomatoses in a single individual.

Abstract

Tuberous sclerosis and Klippel-Trenaunay-Weber (KTW) syndromes are phakomatoses which are believed to be inherited separately. A 41 year old woman presented with the classic features of tuberous sclerosis: adenoma sebaceum, mental retardation, and seizures. In addition, the diagnostic triad of KTW involved the left lower limb: cutaneous naevi, a vascular anomaly, and osteohypertrophy. Arteriography documented the presence of visceral tumours and an arteriovenous malformation of the leg. This is the first reported association of the fully-developed symptomatology of tuberous sclerosis and KTW in one person.

Entities: Disease Species

Mesh：

Year: 1975 PMID： 168320 PMCID： PMC492003 DOI： 10.1136/jnnp.38.5.500

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

11 in total

1. CONGENITAL HYPERTROPHY OF EXTREMITIES.

Authors: E S BERESTON; D ROBERTS
Journal: South Med J Date: 1965-03 Impact factor: 0.954

2. THE KLIPPEL-TRENAUNAY SYNDROME: VARICOSITY, HYPERTROPHY AND HEMANGIOMA WITH NO ARTERIOVENOUS FISTULA.

Authors: S M LINDENAUER
Journal: Ann Surg Date: 1965-08 Impact factor: 12.969

3. The Klippel-Trenaunay-Weber syndrome: naevus vasculosus osteohy-pertrphicus.

Authors: J F MULLINS; D NAYLOR; J REDETSKI
Journal: Arch Dermatol Date: 1962-08

4. Klippel-Trenaunay-Weber syndrome with pulmonary vein varicosity.

Authors: D W Owens; E Garcia; R R Pierce; F F Castrow
Journal: Arch Dermatol Date: 1973-07

5. Tuberous sclerosis: reappraisal of a clinical entity.

Authors: J C Lagos; M R Gomez
Journal: Mayo Clin Proc Date: 1967-01 Impact factor: 7.616

6. Tuberous sclerosis: a clinical and genetical investigation.

Authors: J Zaremba
Journal: J Ment Defic Res Date: 1968-03

7. Surgical management of orbitofrontal varix in Klippel-Trénaunay-Weber syndrome.

Authors: J E Rathbun; W F Hoyt; C Beard
Journal: Am J Ophthalmol Date: 1970-07 Impact factor: 5.258

8. The angioosteohypertrophy syndrome.

Authors: F Brooksaler
Journal: Am J Dis Child Date: 1966-08

9. Neurocutaneous syndromes in the M kindred; a case of simultaneous occurrence of tuberous sclerosis an neurofibromatosis.

Authors: W J SCHULL; F W CROWE
Journal: Neurology Date: 1953-12 Impact factor: 9.910

Tuberous sclerosis and Klippel-Trenaunay-Weber syndromes. Association of two complete phakomatoses in a single individual.

1. CONGENITAL HYPERTROPHY OF EXTREMITIES.

2. THE KLIPPEL-TRENAUNAY SYNDROME: VARICOSITY, HYPERTROPHY AND HEMANGIOMA WITH NO ARTERIOVENOUS FISTULA.

3. The Klippel-Trenaunay-Weber syndrome: naevus vasculosus osteohy-pertrphicus.

4. Klippel-Trenaunay-Weber syndrome with pulmonary vein varicosity.

5. Tuberous sclerosis: reappraisal of a clinical entity.

6. Tuberous sclerosis: a clinical and genetical investigation.

7. Surgical management of orbitofrontal varix in Klippel-Trénaunay-Weber syndrome.

8. The angioosteohypertrophy syndrome.

9. Neurocutaneous syndromes in the M kindred; a case of simultaneous occurrence of tuberous sclerosis an neurofibromatosis.

10. DEPIGMENTED NEVI: THE EARLIEST SIGN OF TUBEROUS SCLEROSIS.

1. Erosion of vertebral pedicles by unusual vascular causes. Report of three cases.

Review 2. Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

3. [Exudative enteropathy in Klippel-Trenaunay syndrome].

4. Ischaemic infarct of the brain stem combined with bisymptomatic Klippel-Trénaunay-Weber syndrome and cutis laxa.

5. Patterns of non-embolic transient monocular visual field loss.