Syndromes Associated With Lymphatic Dysplasia - Page Four

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Maffucci’s syndrome

First description: Angelo Maffucci, 1881, Naples, Italy.

Synonyms: Achondromatosis with hemangiomata, chondrodysplasia angiomatosis syndrome, chondrodystrophy and vascular hamartoma syndrome, chondrodystrophy with angiomatosis, cutaneous dyschondroplasia-dyschromia syndrome, dyschondroplasia-angiomatosis syndrome, dyschondrodysplasia-haemangiomas syndrome; Kast’s disease, Maffucci-Kast syndrome, multiple enchondromatosis syndrome.

Genetics: inheritance unknown.
Sex ratio: Both sexes affected but males more frequently.

Clinical description:

Benign tumors of cartilage (enchondromas), associated with multiple cavernous hemangiomata.

1- Osteoarticular manifestations

Nodular tumors usually develop before puberty and continue to evolve later. They can lead to fracture, unequal length of the extremities and disharmonious segmental hypertrophy of the body.
Dyschondroplasia of the hands is common (89%) in Maffucci’s syndrome, but they can be found in almost any bone.

2- Vascular manifestations

Hemangiomata in the skin of the limbs and in the viscera: eyes, pharynx, tongue, meninges, and intestines.
Lymphangiomata and lymphangiosarcomata
Phlebangiectasia (venous dilatatons)

3- Dermatologic manifestations

Vitiligo
Pigmented nevi

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Melkersson-Rosenthal or Melkerson-Rosenthal-Miescher Syndrome

First descriptions: Lothar von Frankl-Hochwart in 1891. Described by Melkersson in 1928. Rosenthal described the plicated tongue in 1931.

Synonyms: Rosenthal's syndrome II, Melkersson-Rosenthal-Schuermann syndrome, Rossolimo’s syndrome, Miescher’s cheilitis, Melkersson’s syndrome.

Genetics: May be related to chromosome 9 (9p11).
Autosomal dominant inheritance with variable expressivity.
Sex ratio: Affects men and women equally.

Clinical description:

1- Classical manifestations:

Chronic edema of the lips (granulomatous edema, also called cheilitis granulomatosa, cheilitis glandularis, cheilitis granulomatosis, essential granulomatous macrocheilitis) and other part of the face (chin, eyelids)
Peripheral recurrent facial paralysis
Hypertrophic plicated tongue (lingua plicata, “scrotal tongue”)

2- Other manifestations:

Mild lymphatic hyperplasia (usually with very little fibrosis)
Headaches / migraines
Ptosis of the eyelids
Optic neuritis.

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Noonan Syndrome (NS)

First descriptions: First reported by Kolinski in 1883. In 1930 Ullrich described this disorder, followed by Henry Turner 8 years later.

In 1971 this syndrome was completely described by Jacqueline Noonan, MD, Professor of Pediatrics in Kentucky, and the syndrome was officially named “Noonan syndrome”.
OMIM (Online Mendelian Inheritance in Man database) reference number: 163950
Synonyms: Male Turner syndrome, female pseudo-Turner syndrome, pseudo Ullrich-Turner syndrome, Turner's phenotype with normal karotype, Ullrich-Noonan syndrome, XX Turner phenotype syndrome.

Genetics: Autosomal dominant disorder with variable expression.
In 33-50% of cases Noonan syndrome is caused by a mutation of the gene PTPN11 (which encodes the protein tyrosine phosphatase SHP-2) located on chromosome 12 (12q 24).
Sex ratio: Both sexes are affected equally
Incidence: approximately 1 in 1,000 to 2,500 births.

Clinical description:

Noonan syndrome (NS) is clinically similar to Turner syndrome but with a normal number of chromosomes.

1. Craniofacial manifestations

Triangular face
Down-slanting upper eyelids (95%)
Thickened helix (90%)
Low posterior hairline (55%)
High arched palate (45%),
Micrognathia (small jaw) in 25%,
Low-set, posteriorly-rotated ears
Hypertelorism (widely-spaced eyes)
Webbed neck (pterygium colli)

2. Endocrine manifestations:

Growth retardation
Short stature or dwarfism
Sexual development:
A. Males
Cryptorchidism (undescended testicles) (60%)
Small testes.
B. Females
Normal fertility

3. Musculoskeletal manifestations

Cubitus valgus (50%)
Superior pectus carinatum (90-95%) (“pigeon breast”)
Inferior pectus excavatum (concave chest, “funnel breast”)
Vertebral/sternal anomalies
low-set widespaced nipples
Dental malocclusion (35%)
Short curved fingers with blunt fingertips (30%),
Scoliosis (10%)
Joint hyperextensibility and hypotony

4. Cardiovascular manifestations

Pulmonary valve stenosis (50%)
Hypertrophic cardiomyopathy (20-30%)
Atrial septal defects (10-20%)
Asymmetric septal hypertrophy (10%)
Ventral septal defects (5-15%)
Persistent ductus arteriosus (3%).
Tetralogy of Fallot

5. Lymphologic manifestations (20%)

Distal chronic lymphedema of dorsal surface of the feet. This can be the first clinical symptom of NS.
Genital lymphedema
Intestinal lymphangiectasia
Pulmonary lymphangiectasia
Cervical cystic hygroma (benign lymphatic tumors of the neck)
Hydrops fetalis (fetal edema)

6. Neurobehavioral manifestations

Mild-moderate mental retardation (33%)
Gross motor developmental delay (25%)
Speech and language developmental delay (20-30%)
Verbal performance discrepancy (15%)
Seizures (13%)

7. Hematologic manifestations

Coagulation defects (33%)
- Partial deficiency of factor XI:C, XII:C, and VIII:C
- Thrombocytopenia
- Von Willebrand disease
Splenomegaly (50%)
Hepatosplenomegaly (25%)

8. Ophthalmologic manifestations

Strabismus (about 55%)
Myopia
Amblyopia
Nystagmus.

9. Dermatologic manifestations

Large finger pads (67%)
Neurofibromatosis.

10. Otologic manifestations

Mild hearing loss or deafness (12%)

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