Syndromes Associated with Lymphatic Dysplasia - Page Two

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Distichiasis (a.k.a. Lymphedema-Distichiasis) syndrome

Distichiasis is defined as a double row of eyelashes (from the Greek distichia, meaning double line).

First description: 1954, University of Houston, Texas.

OMIM (Online Mendelian Inheritance in Man database) reference number: 153400

Genetics: Chromosome 16q24.3. Mutation of the gene FOXC2 (MFH1).
Onset: usually at puberty.

Clinical description:

1- Ophthalmologic manifestations
Distichiasis: the double row of eyelashes may be difficult to identify clinically.
It may be discovered because of an irritation of the cornea, corneal abrasion or in some cases corneal ulceration
Ptosis of the eyelids
Photophobia.
Partial ectropion (eversion of part of an eyelid) of the lateral third of the eyelashes.

2- Lymphologic manifestations
pterygium colli (Webbing of the neck)
Primary lymphedema, often appearing at puberty
Thoracic duct abnormalities
Chylothorax

3. Osteoarticular manifestations
Vertebral segmentation abnormalities: irregularities of end plates, spinal extradural cysts, etc.
Amelogenesis imperfecta (defective dental enamel)

4. Cardiologic manifestations
Congenital heart disease, e.g. tetralogy of Fallot or atrioventricular block Capillary hemangiomata

D- Other associated symptoms:
Cleft palate
Low hairline

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Dahlberg (Lymphedema-Hypoparathyroidism) Syndrome

First description: Dahlberg P.J., 1983.
OMIM (Online Mendelian Inheritance in Man database) reference number: 247410

Synonyms: Dahlberg newcomer syndrome.

Genetics: autosomal recessive and X-linked recessive type.

Clinical description:

This syndrome consists mainly of primary lymphopathy of extremities or lungs, progressive renal failure, mitral valve prolapse, brachydactyly (abnormal shortness of toes or fingers) and hypoparathyroidism.

1- Lymphologic manifestations
Primary lymphedema of upper or lower extremities that can develop soon after birth
Pulmonary lymphangiectasia (dilatation of lymph vessels)

2- Nephrologic manifestations
Progressive renal failure that may require kidney transplantation

3- Ophthalmologic manifestations
Cataracts (bilateral)
Ptosis
Telecanthus (increased distance between the inner aspect of the eyelids)

4- Other associated Symptoms
Mitral valve prolapse
Brachydactyly (brachytelephalangy)
Hypoparathyroidism
Hypocalcemia
Hypothyroidism
Broad nasal bridge and lateral displacement of the inner canthi.
Thick skin
Increased body hair
Short stature/dwarfism

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Fabry's disease

First description: Independently described in 1898 by the dermatologist Jonathan Fabry ("purpura haemorrhagica nodularis") and the surgeon William Anderson ("multiple capillary angiectasis").

OMIM (Online Mendelian Inheritance in Man database) reference number: 301500

Synonyms:

Anderson-Fabry Disease, alpha - galactosidase A deficiency, angiokeratoma corporis diffusum (universale), cardiovasorenal syndrome, ceramide lactoside lipidosis, ceramide trihexosidase deficiency, GLA deficiency, glyosphingolipidosis, hereditary dystopic lipidosis, lactosyl ceramidosis, Ruiter-Pompen syndrome, Sweeley-Klionsky disease, thesaurismosis hereditaria, thesaurismosis lipoidica, trihexosidase deficiency disease.

Genetics: X-linked lysosomal disorder.

Defect of the gene alpha-galactosidase A (enzyme involved in the biodegradation of lipids) located on the long arm of the X chromosome (Xq22).

Some cases of mutation are likely.

Incidence: 1 case per 117, 000-40,000
Mortality/morbidity: The average age at death is 41 years.
Sex: Fabry’s disease most often affects hemizygous males, but is sometimes found in heterozygous females, who do not display as severe symptoms, or as complete a set.
Age of onset: Generally from childhood to adolescence.

Clinical description:

This disorder leads to a progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids (GSLs) in vascular endothelial lysosomes of the skin, kidneys, heart, nervous system, and blood vessels.

1- Dermatologic manifestations:
Cutaneous angiokeratoma: maculopapular skin lesions consisting of reddish to dark purple pin-head size spots (dilated capillaries). They could be located anywhere in the body but they are usually located in regions where skin folds and stretching occur.
Hypohidrosis, anhidrosis: decreased or absent sweating
Teleangiectasia (enlargement of small blood vessels)
Rash

2- Lymphologic manifestation
Lymphedema in the lower extremities; the etiology is unknown.

3- Musculoskeletal manifestation
Acroparesthesia (crises of severe pain, burning, and/or itching in the extremities, associated with fever)

4- Ophthalmologic manifestations
Corneal dystrophy
Corneal opacities
Cataracts

5- Cardiovascular manifestations
Angina
Coronary artery disease
Myocardial ischemia
Congestive heart failure
Left ventricular hypertrophy
Mitral insufficiency
Mitral valve prolapse
Conduction abnormalities

6- Neuropsychiatric manifestations
Stroke
Aneurysm
Seizures
Hemiplegia
Hemianesthesia (loss of sense of touch in the right or left half of the body)
Aphasia
Cerebral hemorrhage.
Psychotic behavior

7- Renal manifestations
Chronic renal insufficiency
Kidney failure

8- Gastrointestinal manifestations
Episodes of abdominal or flank pain, diarrhea, or vomiting
Jejunal diverticula
Peritonitis

9- Endocrine manifestations
Abnromal growth
Delayed onset of puberty.

10- Other manifestations
Chronic bronchitis
Anemia

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