Macrodystrophia lipomatosa is rarenon-hereditary disorder, congenital form of localised gigantism of finger orlimb, usualy unilateral, characterized by congenital progressive overgrowth ofall mesenchimal components, with predominantly fibroadipose or fibro-fattytissue; developmental disorder causing localized overgrowth of a digit(s) orlimb.
If the patient has affected more than one digit, usually neighboringdigits are involved. There are two form of ML: non-progressive and progressiveform. Progressive type of MDL of the affected digits showed overgrowth incomparison to a normal growth pattern and is complicated by overgrowth ofadipose tissue in the palm, the dorsum of the hand, and the forearm. Thepathologic findings are infiltration and hypertrophy of adipose tissue insubcutaneous tissue, nerve sheaths, and periosteum. Macrodystrophia lipomatosais usually diagnosed at birth, in neonatal period or during childhood. Usuallythere is no associated abnormalities. A 19-months-old boy was firstobserved by genetics at age of 19 months. The boy was born to a healthy30-year-old mother and a healthy 32-year-old-father as a second child fromsecond pregnancy, nonconsanguineous parents and he was referred to theDepartment of Medical Genetics at the University of Novi Sad Hospital for theevaluation of his enlargement of thumb and index finger.
Parents didn’t worryabout this abnormalities and they come for genetic advice only because ofcosmetic reason. Pregnancy and delivery were unfatiful. Birth weight 3500grams, birth length 52 cm, birth head circumferency was 34 cm. Imiddiatellyafter birth was observed for sligthly unilateral enlargement of thumb and indexfinger of right hand, and had been progressing slowly over months. There is nohistory of skin changes, pain or trauma.
Prenatal and family history wereunremarkable. Phisical examination in age 19months showed normal body parameters, normal other body proportion except hisdissproportionanely enlarged thumb, index finger and thenar and he didn’t haveany dismorpological features. His general condition was good, and he hadenlargement of thumb and enlargement with clynodactyly of second finger andenlargement 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 toother hand thumb was 4,4 cm, index finger 4 cm. Enlargement of fingernail onboth affected fingers. He had difficult flexion of the thumb in interphalangealjoint, and normal in metacarpophalangeal joint of thumb. Other fingers of thesame hand (III, IV et V) and all fingers on the counterpart hand and feet werenormal (Figure 1). No same other lesions were seen of limbs.
Neurologicalfindings and psychomotor development were normal. There were no additionalabnormalities of the limbs or other organ system. His karyotype was normal: 46,XY.Abdominal ultrasonography, echocardiography, electroencephalography werenormal. Ultrasonography finding of right hand (with color Doppler): softtissue of the thumb of the right hand voluminous, hyperechogenic, loose, withechoes of multiple small blood vessels, with no impact on power Doppler in thetissue. Described soft tissue extends to the wrist with palmar and dorsalsides, and the second finger of the right hand. Plain radiography of the right hand reveraled enlargement odphalangs in length and with (elongated, broad and splayed) of thumb and indexsfinger of the right hand associated with soft tissue hypertrphy.
Epiphyses wereintacted (normal). Bones of the left hand were without pathological changes.The bones of the thumb of the right hand were significantly more voluminouswith prominent soft tissue swelling in the region. Also, significantly morevoluminous and all three finger phalanges with soft tissue swelling. Middlephalanx of the index finger is dislocated and not fully developed (short).Electrophysiological examination of the radial and ulnar nerves afthe affected hand was normal.
Right handmagnetic resonance imaging was performing using a STIR and T1 (coronal), T1and PDFS (axial) tomogram. Enlarged the first metacarpal bone and phalanges ofboth second finger relative to the other fingers. Subcutaneous adipose tissueof the thumb and thenar of the right hand was significantly increased with amaximum 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 medialinterphalangeal joint dislocation in the second finger where the mean phalanxdisproportionately smaller than the other two. Distal phalanx of the indexfinger of the right hand is voluminous. Thenar muscle fibers were atrophic andseparated from each other profliferated fat. Lumbrical muscle also changed dueto the proliferation of adipose tissue. Third, fourth and fifth fingers of theright hand are normal morphology with no pathological changes.According progressive overgrowth ofaffected digits, clinical, radiological, and MRI findings were made diagnosis of MDL.
Macrodystrophia lipomatosa has tobe differentiated from other form of macrodactyly, such as Proteus syndroma;neurofibromatosis; hemangiomatosis,fibrolipomatosis of the nerve, Maffucci’s syndrome, Ollier’s disease; familiallipomatosis, symmetrical lypomatosis, congenital aggresive lipomatosis,lipoblastomatosis, Gardner syndroma, lymphangioma, hemangioma,Klippel-Trenaunay-Weber syndrome, CLOVES syndrome, and Bannayan-Riley-Ruvalcabasyndrome. It occurs sporadic. Etiology and pathogenesis of ML remainsuncertain. It has been sugested that it results from the local deficiency ofgrowth inhibiting factor which leading to continue to increase growth in theperiod of organogenesis.In with age is the best surgicalprocedure. Significant reason for surgical intervention in the treatment of MDLis functional restriction and cosmetic reason. The management is mainlysurgical but the outcome may not be very gratifying (9), as repeated debulkingand partial amputation along with the extent of possible psychological traumanecessitate that surgery be delayed, if possible until complete of growth asthe disease becomes static then and limb salvage surgery can then achieve asatisfactory outcome.The case of this patient is specific because the progressive nature ofdisease, thumb and index fingers of the hand are involved.
Further investigation should supply us by information about etiology andpathogenesis. It is interesting to know is there any connection and is it thesimilar mechanism responsible for non-progressive and progressive type of MLand is there any connection with lipomatosis growth with no matter oflocalization adipose tissue (such as in case od perineal lipoma for example) oris some other localization. A B C D Figure 1.
A, B) Clinicalappearance of the affected hand A) Thumb and index finger of the right hand showingenlargmenet on dorsal side. B) Image od the palmar side of the right handC) Affected fingers showing soft tissueand bony overgrowth of metacarpal bones of thumb and index finger (arrow).Ephiphyseal centers of ossification od affected metacarpal and phalangeal bonesof the index finger is well formed (arrow head) D) MRI finding using a STIR andT1 (coronal), T1 and PDFS (axial) tomogram showed enlarged the first metacarpalbone and phalanges of both second finger relative to the other fingers.Subcutaneous adipose tissue of the thumb and thenar of the right hand wassignificantly increased with a maximum thickness at the level of the palmardistal phalanx of the thumb (14mm). Second metacarpal bone of the right hand isarched curved and is visible medial interphalangeal joint dislocation in thesecond finger where the mean phalanx disproportionately smaller than the othertwo. Distal phalanx of the index finger of the right hand is voluminous.
Thenarmuscle fibers were atrophic and separated from each other profliferated fat. Lumbricalmuscle also changed due to the proliferation of adipose tissue. Third, fourthand fifth fingers of the right hand are normal morphology with no pathologicalchanges.