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 Macrodystrophia lipomatosa is rare
non-hereditary disorder, congenital form of localised gigantism of finger or
limb, usualy unilateral, characterized by congenital progressive overgrowth of
all mesenchimal components, with predominantly fibroadipose or fibro-fatty
tissue; developmental disorder causing localized overgrowth of a digit(s) or
limb. If the patient has affected more than one digit, usually neighboring
digits are involved. There are two form of ML: non-progressive and progressive
form. Progressive type of MDL of the affected digits showed overgrowth in
comparison to a normal growth pattern and is complicated by overgrowth of
adipose tissue in the palm, the dorsum of the hand, and the forearm. The
pathologic findings are infiltration and hypertrophy of adipose tissue in
subcutaneous tissue, nerve sheaths, and periosteum. Macrodystrophia lipomatosa
is usually diagnosed at birth, in neonatal period or during childhood. Usually
there is no associated abnormalities.

 

A 19-months-old boy was first
observed by genetics at age of 19 months. The boy was born to a healthy
30-year-old mother and a healthy 32-year-old-father as a second child from
second pregnancy, nonconsanguineous parents and he was referred to the
Department of Medical Genetics at the University of Novi Sad Hospital for the
evaluation of his enlargement of thumb and index finger. Parents didn’t worry
about this abnormalities and they come for genetic advice only because of
cosmetic reason. Pregnancy and delivery were unfatiful. Birth weight 3500
grams, birth length 52 cm, birth head circumferency was 34 cm. Imiddiatelly
after birth was observed for sligthly unilateral enlargement of thumb and index
finger of right hand, and had been progressing slowly over months. There is no
history of skin changes, pain or trauma. Prenatal and family history were
unremarkable.

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Phisical examination in age 19
months showed normal body parameters, normal other body proportion except his
dissproportionanely enlarged thumb, index finger and thenar and he didn’t have
any dismorpological features. His general condition was good, and he had
enlargement of thumb and enlargement with clynodactyly of second finger and
enlargement of thenar of right hand was unilateral, which was soft, painless.
Thumb length of right hand was 8,3 cm, index finger 5 cm, in comparison to
other hand thumb was 4,4 cm, index finger 4 cm. Enlargement of fingernail on
both affected fingers. He had difficult flexion of the thumb in interphalangeal
joint, and normal in metacarpophalangeal joint of thumb. Other fingers of the
same hand (III, IV et V) and all fingers on the counterpart hand and feet were
normal (Figure 1). No same other lesions were seen of limbs. Neurological
findings and psychomotor development were normal. There were no additional
abnormalities of the limbs or other organ system. His karyotype was normal: 46,XY.
Abdominal ultrasonography, echocardiography, electroencephalography were
normal.

 

Ultrasonography finding of right hand (with color Doppler): soft
tissue of the thumb of the right hand voluminous, hyperechogenic, loose, with
echoes of multiple small blood vessels, with no impact on power Doppler in the
tissue. Described soft tissue extends to the wrist with palmar and dorsal
sides, and the second finger of the right hand. Plain radiography of the right hand reveraled enlargement od
phalangs in length and with (elongated, broad and splayed) of thumb and indexs
finger of the right hand associated with soft tissue hypertrphy. Epiphyses were
intacted (normal). Bones of the left hand were without pathological changes.
The bones of the thumb of the right hand were significantly more voluminous
with prominent soft tissue swelling in the region. Also, significantly more
voluminous and all three finger phalanges with soft tissue swelling. Middle
phalanx of the index finger is dislocated and not fully developed (short).

Electrophysiological examination of the radial and ulnar nerves af
the affected hand was normal. Right hand
magnetic resonance imaging was performing using a STIR and T1 (coronal), T1
and PDFS (axial) tomogram. Enlarged the first metacarpal bone and phalanges of
both second finger relative to the other fingers. Subcutaneous adipose tissue
of the thumb and thenar of the right hand was significantly increased with a
maximum thickness at the level of the palmar distal phalanx of the thumb (14mm).
Second metacarpal bone of the right hand is arched curved and is visible medial
interphalangeal joint dislocation in the second finger where the mean phalanx
disproportionately smaller than the other two. Distal phalanx of the index
finger of the right hand is voluminous. Thenar muscle fibers were atrophic and
separated from each other profliferated fat. Lumbrical muscle also changed due
to the proliferation of adipose tissue. Third, fourth and fifth fingers of the
right hand are normal morphology with no pathological changes.

According progressive overgrowth of
affected digits, clinical, radiological, and MRI findings were made diagnosis of MDL.

 

Macrodystrophia lipomatosa has to
be differentiated from other form of macrodactyly, such as Proteus syndroma;
neurofibromatosis; hemangiomatosis,
fibrolipomatosis of the nerve, Maffucci’s syndrome, Ollier’s disease; familial
lipomatosis, symmetrical lypomatosis, congenital aggresive lipomatosis,
lipoblastomatosis, Gardner syndroma, lymphangioma, hemangioma,
Klippel-Trenaunay-Weber syndrome, CLOVES syndrome, and Bannayan-Riley-Ruvalcaba
syndrome. It occurs sporadic. Etiology and pathogenesis of ML remains
uncertain. It has been sugested that it results from the local deficiency of
growth inhibiting factor which leading to continue to increase growth in the
period of organogenesis.

In with age is the best surgical
procedure. Significant reason for surgical intervention in the treatment of MDL
is functional restriction and cosmetic reason. 
The management is mainly
surgical but the outcome may not be very gratifying (9), as repeated debulking
and partial amputation along with the extent of possible psychological trauma
necessitate that surgery be delayed, if possible until complete of growth as
the disease becomes static then and limb salvage surgery can then achieve a
satisfactory outcome.

The case of this patient is specific because the progressive nature of
disease, thumb and index fingers of the hand are involved.

 

Further investigation should supply us by information about etiology and
pathogenesis. It is interesting to know is there any connection and is it the
similar mechanism responsible for non-progressive and progressive type of ML
and is there any connection with lipomatosis growth with no matter of
localization adipose tissue (such as in case od perineal lipoma for example) or
is some other localization.

 

 

 

A                                  B                       C                           D

 

Figure 1. A, B) Clinical
appearance of the affected hand A) Thumb and index finger of the right hand showing
enlargmenet on dorsal side. B) Image od the palmar side of the right hand
C)  Affected fingers showing soft tissue
and bony overgrowth of metacarpal bones of thumb and index finger (arrow).
Ephiphyseal centers of ossification od affected metacarpal and phalangeal bones
of the index finger is well formed (arrow head) D) MRI finding using a STIR and
T1 (coronal), T1 and PDFS (axial) tomogram showed enlarged the first metacarpal
bone and phalanges of both second finger relative to the other fingers.
Subcutaneous adipose tissue of the thumb and thenar of the right hand was
significantly increased with a maximum thickness at the level of the palmar
distal phalanx of the thumb (14mm). Second metacarpal bone of the right hand is
arched curved and is visible medial interphalangeal joint dislocation in the
second finger where the mean phalanx disproportionately smaller than the other
two. Distal phalanx of the index finger of the right hand is voluminous. Thenar
muscle fibers were atrophic and separated from each other profliferated fat. Lumbrical
muscle also changed due to the proliferation of adipose tissue. Third, fourth
and fifth fingers of the right hand are normal morphology with no pathological
changes.

 

 

 

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