Lipofibromatosis  is a  rare  benign soft  tissue  tumor that  primarily  affects children.  There  is limited  cytological description and management of this rare condition in the literature which leads to misdiagnosis. The two years old patient first presented with a big, non-tender swelling on the scalp’s right temporoparietal area. Despite receiving chemotherapy for misdiagnosis of small round cell carcinoma on first biopsy, the tumor continued to grow, requiring surgical removal. The histopathology report after surgical excision validated the diagnosis of lipofibromatosis. The cosmetic care of the wound was taken by plastic surgery team. The fact that this case was successfully treated shows how crucial it is to treat rare pediatric cancers with a multidisciplinary strategy that incorporates surgical precision, imaging, histopathology and aesthetic considerations. This strategy highlighted the need of preserving the patient’s quality of life by cosmetic reconstruction in addition to facilitating efficient tumor removal. Emphasizing thorough diagnosis  and  interdisciplinary  management, this  case  adds important  context  to the  little  existing research  on  lipofibromatosis.

Childhood lipofibromatosis is  a  slow-growing tumor made    of fatty    tissue    that  is  separated by  septa   aroundthe   perimysium.1 With    a male    to  female ratio    of 2.7:1,    it is  extremely rare   and  often    affects     the  distal    extremitiesfirst,    then   the   trunk,     head,   and   neck.    If treatment is insufficient, the  recurrence rate    is  extremely high, ranging from    33%  to  72%.2 Histopathology is  still  the primary method of  diagnosis in  lipofibromatosis due to  the  condition’s ambiguous presentation and  imagingresults.3 When    a  tumor   gets   bigger     over   time,    surgicalexcision is  advised. This    is the   first   case  report     from Pakistan with    radiological features, histopathology,and   management of  a two   years    old  child    with    a large right scalp lipofibromatosis.

A  two  years    old   child   was   brought by  his  parents to Punjab Institute of Neurosciences, Lahore after   referralfrom    another public sector hospital in   September,2022    with   complaints of  gradually increasing painlessswelling across    his   right    temporoparietal region     since birth.    On  examination the   patient was   opening eye spontaneously, obeying commands with    good    cry,  and had   bilaterally equal    and  reactive pupils. There    was a  large    swelling of about    15  × 12  cm   temporoparietal region which was    non  tender, free of  skin    overlaying it,  and  affixed to  the   underlyingstructure (Fig.1a). The    local   temperature was    not elevated with    regular skin   covering and   there   was   no thrill    on  auscultation. The   patient’s vital    signs    were stable. The   child   development was    age   appropriateand   had  no   any   systemic abnormality or  syndromicaffiliation.Based    on history and   clinical exam    lipoma,sebaceous cyst,    hamartoma and   neurofibroma were kept    as differentials. Base    line   investigation includingcomplete blood count, coagulation profile, renal function tests,   liver    function test,    serum electrolytesand chest X-ray were all within normal limits.  An    extracalvarial tumor of  15  x  3  x 7  cm   was seen   on   the   brain   MRI;    there    was   no   intracranialor   intraorbital extension (Fig.1b). Brain CT angiography revealed feeders from   the   ophthalmicand superficial temporal arteries (Fig.1c).Fig.1.: (a) Pictures taken before the surgery, depicting a massive scalp mass. (b) Coronal T2W images showing a largehyperintense fatty lesion (black arrows). (c) CTA brain sagittal image showing the arterial supply of the lesionfrom superficial temporal artery (white arrowhead) and ophthalmic artery (black arrowhead).

Fig.1.: (a) Pictures taken before the surgery, depicting a massive scalp mass. (b) Coronal T2W images showing a large

hyperintense fatty lesion (black arrows). (c) CTA brain sagittal image showing the arterial supply of the lesion

from superficial temporal artery (white arrowhead) and ophthalmic artery (black arrowhead).

Neuroblastoma, infantile fibrosarcoma, tiny   round cell   sarcoma, and   malignant round blue    cell  tumor were the differential diagnoses.Ethics   approval  and   consent   to  participate:   Theparents of   patient gave    written informed consentfor   the  publication of   this   case   and    the   necessaryradiological pictures. Written informed consent was obtained. This   research follows the   most    recent   versionof the Helsinki Declaration. At    birth,    the  patient’s swelling measured 1 x  1 cm,   but  it  gradually became larger. Five    cycles of doxorubicin and   ifosfamide were    tried   without successafter    a  biopsy at another hospital revealed small   round cell   carcinoma, which     resulted in  substantial growth.As   such,   the   patient was   referred to our   institute for further management. After    thorough evaluation of the   patient surgery was    planned. A subcutaneousplane    dissection was    performed using    an  ellipticalincision. The  tumor    was   excised in its  entirety, and   the superficial temporal artery     was  located and   ligated.Plastic surgeons preserved the   aesthetic closure while excising the   excess skin    (Fig.2a). The   extracalvaralvar

Fig.2: (a) Picture taken at OT table after skin closure and drain insertion. (b) A large tumor after resection.(c) Post-operative CT head coronal view showing edematous changes along the right temporoparietal region.(d) After 3rd post-operative day, periorbital edematous changes are visible.Scalp Lipofibromatosis in a two-year-old child

lesion    at the   temporoparietal region was   found    to be soft   to  firm,   white, cystic    heterogeneous, and   fairly vascular throughout the   operation (Figure 2b).   The intra-operative and    post-operative hospital stay was    uneventful. The    immediate post-operative CT scan    of the   brain    showed no  residual tumor    (Fig.2c).The   subcutaneous drain    was    removed on  2nd  post-operative day    and   the   patient was    discharged on 3rd  post-operative day    (Figure 2d).    The   specimenwas   sent    to be   examined histopathologically. Small, randomly organized round     to  oval   cells    were    found in  the   histopathology sections. These cells    were deposited in  a myxoid background and   had   negativeimmunohistochemistry stains (SMA, CD34, MUC4, SOX10, B-catenin, Desmin, S100), which suggestedthat   the  diagnosis was   infantile lipofibromatosis. The patient followed up  on   7th  post-operative day   had healthy wound healing and   stitches were    removed.After    6th month and   one  year    of  follow up  there    was no   residual mass    or swelling and   had   healthy scar. Currently the baby is active and playful.

Because lipofibromatosis is  a  rare   benign fibrous tumor of   children that    can   recur,    it  poses     special diagnostic and   treatment issues.4 This   instance of a  two years    old  with    a  large   involvement of  the   scalp   sheds light    on  the  difficulties in  identifying and   treating these uncommon malignancies.  Our case    is unique since    it  is located on   the scalp, contrary to   the  histological description of lipofibromatosis, which     is defined by   the   infiltrationof  mature adipocytes among fibrous bands, with    a preference for   the  distal    extremities.5  The  diagnosisof  juvenile scalp    masses requires rigorous histologicalevaluation due   to  the  wide    range    of possible causes, from    benign entities like   dermoid cysts    to malignancieslike sarcomas.6 Imaging is   a  crucial but  complex part    of   the lipofibromatosis diagnostic maze. The    tumor’ssize,    connection to   surrounding structures, and lack    of  intracranial extension were   all   determinedby   magnetic resonance imaging (MRI)     in our   case. These details are    crucial for   surgical planning.Although lipofibromatosis is  not  pathognomonic, its MRI   features—such as  its   well-defined borders and heterogeneous signal     intensity owing to  the  mixing of   fibrous and    adipose tissue—provide importanthints    towards the   diagnosis.7 Moreover, our   patient’sCT  angiography revealed the  vascular supply of  the tumor, which     is  an essential information to minimizeintraoperative blood loss   and    guarantee accuratetumor    excision. Despite these    benefits, lipofibromatosiscannot     be diagnosed with   certainty with   imaging alone. This   is demonstrated by  the   differential diagnoses that were    taken   into    consideration in  our  case,    such    as neuroblastoma and   infantile fibrosarcoma, which    have similar imaging characteristics to   lipofibromatosis.This   emphasizes how   imaging should not   be used    as  a stand-alone diagnostic tool,   but  rather    as  a supplementto  histopathological examination. In  order    to diagnosecomplex pediatric malignancies like   lipofibromatosis,this   dual   method emphasizes the   symbiotic interactionbetween imaging and  histopathology, ensuring precise diagnosis and personalized care.  In   order    to  reduce the  risk   of  recurrence, surgicalexcision with    well-defined margins is  the  mainstay of lipofibromatosis management. This   idea  was   carefullyimplemented in   our   instance through thoroughsurgical excision. Boose    et al.,   conducted institutionaland    literature review of   uncommon entity of lipofibromatosis and   reported recurrence rate   rangingfrom    33%  to  72%   and  emphasized the   need    for  careful long-term follow-up.2 However, after    the   one-yearfollow-up, our   patient showed no  signs   of  recurrence.This    could be  due    to   the   surgical technique’sthoroughness and  the   uncommon involvement of  the scalp, which may have different biological behavior.  With the   initial    diagnosis made    at  another public sector    hospital, the   patient was  put   on  chemotherapy.This    choice was    made   in  light    of the   difficulty in diagnosing rare    tumors like   this.   The   considerationof   chemotherapeutic intervention in   our   situationhighlights the   importance of   obtaining a  clear diagnosis prior    to beginning treatment, even   though it  is  not  a  usual    method for  lipofibromatosis. The tumor’s continued growth in  spite   of  chemotherapyconfirms that    lipofibromatosis is  resistant to  these kinds    of  treatments, which    is consistent with   researchfrom    Butel    et al.,   who   found   that   chemotherapy had   a limited effect on these tumors.8  Furthermore, the   surgical management emphasizedthe    need    of   interdisciplinary cooperation, with plastic surgery playing a crucial role    in   aestheticreconstruction—a factor    that  is  especially important in juvenile situations for  both   functional and   psychologicalreasons.9   The  favorable cosmetic result   in  our   instancehighlights the   significance of  including reconstructivefactors     into  the   surgical strategy, guaranteeing not   only the   tumor’s eradication but   also  the   patient’s quality of life being preserved.

In conclusion, the   difficulty in   identifying and treating such    unusual tumors is  demonstrated by this   case   study     of   childhood lipofibromatosis with uncommon scalp    involvement. It  underlines the   need   of surgical excision as  a  treatment and   the  critical functionthat  histological examination plays   in  conjunction with imaging in  providing an  accurate diagnosis. This   case advocates for   a multidisciplinary approach to obtain optimal outcomes and  improve the   quality of  life  for affected children, adding important knowledge to  the limited literature on lipofibromatosis.Acknowledgments: Thankful to Dr.   Haseeb MehmoodQadri    for  his   crucial support in  writing and  reviewingNasruddin Ansari et al.

Pak J Med Sci     December Part-II  2024   Vol. 40   No. 12     PINS Supplement      www.pjms.org.pk     S94this  case   report. His   expert    guidance and   meticulousfeedback significantly enhanced the   quality of   our work.

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