Developmental Disorders of the Lymphatics

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Saturday, October 15, 2005

Syndromes Associated with Lymphatic Dysplasia - Page Six

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Turner Syndrome

First descriptions: Giovanni Morgagni, 1768. Henry Turner, 1938.

Synonyms: Monosomy X, Turner-Varny Syndrome; Bonnevie-Ulrich syndrome; Morgagni-Turner-Albright syndrome, chromosome XO syndrome, genital dwarfism, gonadal dysgenesis (45,X); ovarian dwarfism, ovarian aplasia, pterygolymphangiectasia; Schereshevkii-Turner syndrome.

Genetics: absence (total or partial) or alteration of X chromosome (Xp11.2-p22.1).
Possible chromosomal anomalies:
- 45, XO karyotype: 55%.
- 46, XX karyotype: 25% with defective X chromosomes (deletion, duplication etc.).

Mosaics: 15%.

Incidence: approximately 1 in 2,500 births.
Over 95% of fetuses abort spontaneously.
This syndrome is responsible for about 10% of all spontaneous abortions
Sex ratio: Females only.

Clinical description:

1. Lymphologic manifestations

The etiology of this syndrome is probably anomalies of lymphatic development that lead to lymphatic hypoplasia and valvular dysplasia. The mechanism may involve a deficiency in the gene responsible for activating the protein tyrosine kinase.
The most common manifestations are:
Pterygium colli (webbed neck), 50%
Cystic hygroma, a.k hydrops fetalis
Primary lymphedema of the dorsum of the hands and feet (80%)
Many of the associated lesions typically resolve spontaneously in adulthood.

2. Craniofacial and neurological manifestations

Triangular face
Midfacial hypoplasia
Low posterior hairline (80%)
Small lower jaw (70%)
Unusual shape and rotation of ears (80%)
Inner canthal folds (70%)
Eyelid ptosis
Shield chest with widely spaced nipples (78%)
Hearing loss (50%)
High palate (82%)

3. Cardiovascular manifestations

Congenital heart malformations (20-30%)
Coarctation of the aorta (15-30%)
Bicuspid aortic valve (33%)
Aortic aneurysms
Mitral valve prolapse (25%)
Ectopia cordis (malposition of the heart; in the most common form, the heart protrudes out of the chest through a split sternum)
Hypoplastic left heart
Pulmonary stenosis
Vascular malformations: vascular dysplasia, hemangiomata, venous ectasia,
multiple renal arteries (90%)

4. Dermatologic manifestations

Pigmented nevi (50-70%)
Nail hypoplasia, soft upturned nails (70%)

5. Ophthalmologic manifestations

Blepharoptosis (eyelid ptosis)

6. Genitourinary manifestations

Double collecting system, absent kidney or abnormalities of the ureters (20%)
Kidney malrotation (15%)
Horseshoe kidneys (10%)
Unilateral aplasia or hypoplasia of the kidneys

7. Endocrinologic manifestations

Short Stature 100%
Gonadal dysgenesis or failure
- Gonadal dysgenesis usually leads to primary or secondary amenorrhea (95%)
Ovarian failure (90%)
Hypothyroidism (20-30%)
Type II diabetes (5%)

8. Musculoskeletal manifestations

Broad chest (80%)
Cubitus valgus (70%)
Short 4th metacarpals (50%)

9. Gastrointestinal manifestations

Protein-losing enteropathy
Intestinal bleeding


Von Recklinghausen Neurofibromatosis type 1 (NF1)

First descriptions: Giovanni Morgagni in 1768. F. Von Recklinghausen,1882.
Synonyms: Recklinghausen's phakomatosis, Recklinhausen neurofibromatosis, von Recklinghausen neuropathy, neurinofibrolipomatosis, neurinomatosis centralis et peripherica, neurofibromatosis generalisata, Elephant Man’s syndrome.

Genetics: autosomal dominant disorder with complete penetrance and highly variable expression, probably of neural crest origin. About 50% of all cases are in fact mutations.
Incidence: 1 per 3,000-3,500 births.

Clinical description:

1- Dermatologic manifestations

Café au lait spots spots(90-100%), made of increased or brownish skin pigmentation, commonly present in the trunk, axillae (axillary freckles), and inguinal area (inguinal freckles).

2- Neurobehavioral manifestations

Schwannomas or neurofibromata: multiple, often soft, sessile peripheral nerve tumors. These two types of tumor can become malignant over time.
Learning disabilities (25-60%).
Speech impediments
Mental retardation

3. Ophthalmologic manifestations

Lisch nodules (iris hamartomas or iris nevi) are clear, yellow or brown dome-shaped elevations on the surface of the iris (50% of adults).
They usually do not produce any ophthalmologic complications.
Optic nerve gliomas (15%) commonly located on the chiasm or pre-chiasm area.
They may provoke visual disturbances which do not usually progress to visual loss.
Proptosis (droopy eyelid)
Corneal opacity

4. Endocrinologic manifestations

Short stature (43%)
Early or delayed puberty
Thyroid problems

5. Musculoskeletal manifestations

Scoliosis (10-20%)
Pseudoarthrosis (1-2%)
Spinal dislocation

6. Other manifestations:

Hearing loss

Malignancies: malignant myeloid disorders, neurofibrosarcomas, astrocytomas, meningiomas, medulloblastomas,


Yellow nail syndrome:

First description: P.D Samman and W.F.White, 1964.
OMIM (Online Mendelian Inheritance in Man database) reference number: 153300
Genetics: Autosomal dominant disorder. Mutation of the gene FOXC2 (MFH1).

Incidence: Rare – about 100 cases throughout the world have been described in the literature.
Approximately 10% of the cases are congenital.
Median age of onset: 40 year old.
Sex ratio: Twice as many female as males.

Clinical description:

The probable etiology of this syndrome is anomalies of lymphangiogenesis leading to lymphatic hypoplasia

The yellow nail syndrome is characterized by a triad of manifestations:
- Yellow nails (89%)
- Lymphedema (80%)
Pleuropulmonary symptoms (63%)
Chronic sinusitis or bronchiectasis.

1. Dermatologic manifestations

Thick, slow growing and dystrophic yellow or greenish nails
Onycholysis (a common nail disorder characterized by a spontaneous separation of the nail plate starting at the distal margin and progressing proximally)
Loss of the nail cuticle

2. Lymphologic manifestations

Symmetrical hypoplastic lymphedema, usually of the lower extremities; less frequently it can involve the upper extremities, face or genitalia.

3. Pneumologic manifestations

Recurrent unilateral or bilateral pleuropulmonary effusion, bronchiectasia (usually the latest symptom to develop in the triad)
Chronic maxillary sinusitis



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