Developmental Disorders of the Lymphatics

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Friday, October 14, 2005

Syndromes Associated with Lymphatic Dysplasia - Page Three

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Gorham-Stout-Haferkamp syndrome (lymphangiomatosis)

First description: 1955, Gorham and associates.

Synonyms: Acro-osteolysis syndromes, diffuse cystic angiomatosis of bone, disseminated lymphangiomatosis, thoracic lymphangiomatosis, Gorham-Stout syndrome, Gorham's vanishing bone disease, Hajdu-Cheney syndrome, idiopathic massive osteolysis, idiopathic multicentric osteolysis, massive Gorham osteolysis, phantom bone disease, osteolysis of Martorell, Trinquoste syndrome.

Clinical description:

Studies of about 200 cases have been published in scientific literature.
Osteolysis (bone loss) created by angiomatous tissue (abnormal blood or lymphatic vessel growth)

1- Osteoarticular manifestations
Abnormal vessel growth (angioma = “vessel tumor”) produces areas of osteolysis which may be associated with pathological fractures.
Almost any part of the skeleton can be affected but it is most often found in the cranium (parietal area), upper jaw, maxilla, zygoma and extremities.

2- Lymphologic manifestations
Lymphodysplasia (intraosseous lymphodysplasia or lymphovenous dysplasia)

3- Visceral manifestations
Lymphangiomas of the spleen, or liver, lungs, mediastinum.


Hennekam’s Syndrome

First description: 1989, Hennekam and associates.

OMIM (Online Mendelian Inheritance in Man database) reference number: 235510

Synonym: Intestinal lymphangiectasia-lymphedema-mental retardation syndrome.

Genetics: Autosomal recessive inheritance.
Sex ratio: Equal sex ratio.

Clinical description:
About 25 cases have been published in scientific literature.

1- Lymphologic manifestations
-- mainly due to abnormal lymphangiogenesis
- Peripheral 100%
- Face: 86%
- Genital 71%
- Intestines 82%
- Lung 39%
- Heart 22%
- Other: kidneys, thyroid (rare)

2- Facial features
Flat face: 100%
Metopic ridge: 31%
Craniostosis (congenital ossification of cranial sutures)
Craniosynostosis (premature ossification of cranial sutures)
Hypertelorism (widely-spaced eyes)
Epicanthal folds
Small mouth
Small ears

3- Cardiovascular manifestations
Congenital heart defects 20%
Blood vessel abnormalities 40%

4- Neuropsychiatric manifestations:
Mental retardation (inconsistent)

5- Other associated symptoms
Dental anomalies
Gingival hypertrophy
Hearing loss
Renal anomalies
Syndactyly (fusion of fingers or toes)


Klinefelter Syndrome

First descriptions: 1895 Richard Altmann, 1934 Walther Berblinger and 1942 Harry Fitch Klinefelter.

Synonyms: Klinefelter-Reifenstein-Albright syndrome, Reifenstein-Albright XXY syndrome, aspermatogenesis-gynecomastia syndrome, chromosome XXY syndrome, medullary gonadal dysgenesis, primary microörchidism, puberal, seminiferous tubule failure, sclerosing tubular degeneration.

1- 47,XXY: approximately 80%-90%.
2- Mosaic patterns: 46,XY/47,XXY, 46,XY/48,XXXY, and 47,XXY/48,XXXY: approximately 10%.
2- Structurally abnormal additional X: about 1%.

Incidence: approximately 1 in 500-700 male births.
Sex ratio: males only.

Clinical description:

1- Endocrine manifestations
A- Growth
Tall stature
Usually disproportionately long in upper and lower extremities (excessive growth in the long bones); the trunk is short in comparison
B- Sexual characteristics
Male hypogonadism (microörchidism - small testes), gynecomastia and sterility (azoöspermia or oligospermia)
Lack secondary sexual characteristics (low androgen production):
Gynecomastia (abnormally large breasts in a male) at late puberty
Testicular dysgenesis: small and firm testicles with low sperm production.
(Penile size is usually normal.)
Infertility/azoöspermia may be present, caused by extensive hyalinization leading to atrophy of the seminiferous tubules.

2- Neuropsychiatric manifestations:
A majority of patients display some minor developmental and learning disabilities.
Language impairment
Behavioral problems
Lack of common sense/judgment
Poor self-esteem
Patients’ IQ score is reduced by about15 points for each additional X chromosome, on average.

3- Cardiac and circulatory manifestations
Mitral valve prolapse 55%
Varicose veins 20-40%

4- Odontologic manifestations
Taurodontism (enlargement and deepening of the pulp chambers of the molar teeth): 40% of patients.


Klippel-Trenaunay (K-T) Syndrome and Kasabach-Merritt syndrome

Synonyms: Angio-osteohypertrophy syndrome, hyperoxemiating arterio-venous angiomatosis osteohypertrophy.

Genetics: Gene may be located on 5q or p11.
Sex ratio: Females are affected approximately twice as often as males.

Clinical description:
K-T can be characterized by a triad of symptoms (Gloviczki et al., 1991):
Hemangioma (port-wine stain): 95%
Hypertrophy of bones and soft tissues: 93% (limb hypertrophy: 67%)
Varicose veins 76%

Approximately 65% of patients have all 3 symptoms (according to a Mayo Clinic study of 252 patients, with KTS between January 1956 and January 1995)

1- Vascular manifestations
Vascular dysplasia: port-wine stains, cavernous hemangioma, varicose veins, arteriovenous malformations, lymphedema and lymphangiomata.

A- Hemangiomata
Port-wine stain or "birthmark" (cutaneous capillary malformations) often in the lateral aspect of the limb present with a well demarcated linear border. These cutaneous capillary malformations usually do not spontaneously regress or enlarge.

B- Varicose veins and venous dysplasia
Venous varicosities developed in 79% of cases (Muluk et al., 1995)
Typically a large lateral superficial vein seen at birth.
Varicosities may be quite extensive. Generally sparing the saphenous distribution, they more usually affect the popliteal or femoral veins, and sometimes both.
Associated deep venous abnormalities can lead to serious complications, and may include aneurysmal dilatation, hypoplasia, aplasia and absent or incompetent valves.

C- Arteriovenous fistulae, the main feature distinguishing Klippel-Trenaunay syndrome from Parkes-Weber (see below), are rarely found in the affected extremity of K-T patients.

D- Lymphodysplasia:
Lymphodysplasia and resulting primary lymphedema of the extremities (most commonly the legs) is seen in K-T

These can be either aplasia, dysplasia or hyperplasia / lymphangiectasia of the lymph vessels; they can be treated like any other primary lymphedema.

Lymphangioma occurs in about 8% of these patients.

2- Osteoarticular manifestations

Soft tissue and bony hypertrophy

It usually evolves during the first years of life and manifests commonly in one lower extremity or the other (71%). It occurs less frequently bilaterally (20%) or in the upper extremity (25%) [Gloviczki et al., 1991].

It can lead to complications such as postural abnormalities or vertebral scoliosis.

Differential diagnosis:

It is often difficult to distinguish between K-T syndrome and K-T-W or Parkes Weber syndrome. The absence of arteriovenous fistulae and the presence of low-velocity venous malformations inclines the physician to a diagnosis of Klippel-Trenaunay rather than Parkes Weber.

Complications of K-T:

The can include ulcerations, bleeding, cellulitis, deep vein thrombosis and pulmonary embolism.
Involvement of viscera (e.g. lungs, liver, kidneys or large intestine) can produce specific complications such as spontaneous rupture of hemangioma and internal bleeding.


Kasabach-Merritt syndrome: consumptive coagulopathy:

The Kasabach-Merritt syndrome is a medical emergency in K-T patients. It involves thrombocytopenia, caused by the trapping of platelets in an expanding cavernous hemangioma, and occasionally excessive consumption of clotting factors, resulting in internal bleeding (e.g. in internal organs, the head and neck area, or the extremities).



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