Congenital Hand Anomalies and Associated Syndromes

Question 1

seven categories of congenital diseases of the hand

Answer 1

• Failure of formation
• Failure of differentation
• Duplication
• Undergrowth
• Overgrowth
• Constriction band
• General skeletal anomalies

Question 2

Enchondrom

Answer 2

s. Tumors of the hand

grow from the growth plate, which failed to fully differentiate into bone, with calcification

Question 3

Tumor/Disseminated

Multiple enchondromas

M. ollier

Maffucci Syndrom

Answer 3

mostly in the limbs, can involve the pelvis and the facial skeleton

associated with:

vascular malformations - Maffucci syndrome

extensive bone involvement - Ollier disease

classification:

Type I - Ollier

Type II - Maffucci

Type III - metachondromatosis

Type IV - spondyloenchondrodysplasia

Type V - enchondromatosis with irregular vertebral lesions

Type VI - generalized enchondromatosis

Ollier disease:

malignant transformation - 25-30% in the age of 40 - less in Maffucci - secondary chondrosarcom - development of pain, growing of the lesions

malignant transformation in Ollier occur in the scapula or proximal humerus, than hand and wrist

Maffucci-Syndrome:

childhood or adolescence, enchondromatosis and venous malformation, normal at birth, first development of venous malformation especially on the palm and dorsum of hand and foot, maybe pain by association to a nerve

very great enchondromas, malignant transformation about 23%, mostly metacarpus and phalanges, carpus not involved, VMs (venous malformations) use to calcificate and can easily be palpated

Question 4

Osteochondromas

multiple osteochondromas

Answer 4

10-15% of all bone tumors and 20-50% of all benign bone tumors, normally at the lower extremity around the knee, upper extremity on the proximal humerus

multiple osteochondromas - multiple hereditary exostoses (MHE) - patients have no normal activity or social activity because of multiple lesions

differentiate from Nora’s lesion which is only at the hand and in the 20 to 30y, no contact of the lesion to the medullary bone

Question 5

Ehrenfried’s disease

Answer 5

multiple osteochondromas in the upper and lower limbs and tubular bones of the hand and maybe the foot

autosomal-dominant condition, 96% penetrance

males more than female, usually first lesions with 20, malignant transformation when cartilage cap is more than 2,0cm, growth after skeleton maturity

mostly in the knee than in the wrist, presented to the physician as older children complaining functional limitations and unsightly masses, maybe adjacent to the epiphysis, distal radius and ulna are most common

Question 6

Langer-Giedion-Syndrome

Answer 6

short stature, unique facial features, loose skin in infancy, and exostosis

clinic:

dysmorphic facies, scant hair, excessive skin folds, TRPS syndrome II (Tricho-Rhino-phalangeal Sydnrome Type II), multiple exostoses of long and especially the tubular bones occur about the age of 5, cone-shaped epiphyses, generalized joint laxity and muscle hypotonia, mental retardation (70%)

Question 7

Trevor Disease

Answer 7

painful overgrowth on one side of the body of the carpal or tarsal bones, maybe tibia and ulna, similar to osteochondromas

cause is unknown

epiphyseal osteochondroma, mostly unilateral and to the lower limb, medial side of the epyphysis is normally involved

tibia, talus and distal femur most commonly involved

asymetric calcified chondromatous-like overgrowth of epiphyses of carpal bones, maybe CTS is first symptom, osteochondroma on the medial side of the carpus, decrease of carpal motion

Question 8

Neurofibroma

Answer 8

benign peripheral nerv sheath tumor immersed in collagen or myxoid matrix, mixture of Schwann cells, fibroblasts, perineurial-like cells

basic subtypes
cutaneous

most common, late childhood or adolescence, increase in number from a few to hundreds, around the torso, upper extremity dorsal surface, pigmented freckles around the affected area (crowe’s sign)

location, pruritus and cosmetic appearance is the most intention for treatment

subcutaneous

later childhood, nodules that run along the course of peripheral nerves, upper extremity hard masses with compression of the nerv, ulnar and median nerve to cause a cubital tunnel syndrome or a CTS

nodular plexiform

shortly after birth, dense cluster of lesions involve or parallel the course of smaller and major nerves all over the body - one third of theses patiens have the NF Type I, soles of the feet and the palm of the hand are common involved with very symptomatic lesions

diffuse plexiform

lesions of infancy and are usually noted at birth, similar but much larger than the nodular plexiform neurofibromas, characteristic hyperpigmentation, can be massive and may involve the thorax with extension to the upper limb or the pelvis and into the lower limb, both plexiform types carry a high risk of malignant transformation, involve every tissue

even the bone as a congenital pseudarthrosis. Most of the patients of skeletal dysplasia have a diagnosis of NF1

associated Syndromes

Noonan-Syndrom

von Recklinghausen disease

Question 9

Noonan Syndrom

Answer 9

webbed neck, pectus excavatum, neurofibromatosis, cryptochismus and pulmonary stenosis, (congenital heart disease)

most common causes of congenital heart diseases similar to the down syndrome

feeding difficulties, failure to thrive (entwickeln), mental disorder, no cafe-au-lait lesions, cubitus valgus deformity, cutaneous neurofibromatosis occur with much less density than NF1

Question 10

von Recklinghausen disease

NF1

Answer 10

neurocutaneus syndrome that affects the skin with cafe-au-lait spots and multiple fibromatous tumors that may pedunculated along with tumors of the central and peripheral nervous system

NF1 - when a invidiuum has 2 of the following clinical features

• six or more skin cafe-au-lait spots
• axillary or groin freckles
• two or more Lisch nodules
• two or more neurofibromas
• optic pathway gliomas
• bone dysplasia
• first degree family relative

multiple cutaneous nodules begin to grow in early childhood and can occur anywhere on the body, Lisch nodules are melanotic hamartomas of the iris, malignant transformation about 2-5%, exclusively in the plexiform type - second and third decade

bone manifestation is common, tibial pseudarthrosis, NF1 accounts for up to 80% of the long bone pseudarthrosis seen in children, cutaneous freckling of the axilla more associated with the Noonan syndrome,

at surgery there is a clear demarcation between the normal fat and the dysplastic adipose tissue planes, cutaneous stain is normal - clear external demarcation of the underlying pathology

pseudarthrosis of the upper limb are common, mostly the proximal half of the radius, early childhood with a radial deviation with dysplasia or subluxation of the radial head

lifetime risk for malignant transformation is about 20%