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Familial Multiple Lipomatosis

Facial Infiltrating Lipomatosis


Presentation

  • To present a case of gastroduodenal lipomatosis associated with familial multiple lipomatosis (FML).[ncbi.nlm.nih.gov]
Italian
  • Factor 1,311 eTOC CASE REPORT Copyright 1998 EDIZIONI MINERVA MEDICA language: Italian Familial multiple lipomatosis.[minervamedica.it]
Soft Tissue Swelling
  • It is characterized by multiple, soft-tissue swellings on hand, forearm, thigh, and abdomen.[scopemed.org]
Abdominal Tenderness
  • No abdominal tenderness or palpable abdominal mass was observed. Complete blood count and biochemical laboratory findings were normal.[karger.com]
Abdominal Mass
  • No abdominal tenderness or palpable abdominal mass was observed. Complete blood count and biochemical laboratory findings were normal.[karger.com]
Eruptions
  • […] of permanent teeth Early eruption of adult teeth Early eruption of permanent teeth Premature eruption of adult teeth [ more ] 0006337 Seizures Seizure 0001250 Ventriculomegaly 0002119 Percent of people who have these symptoms is not available through[rarediseases.info.nih.gov]
Skin Lesion
  • Fig. 1 a Multiple, subcutaneous nodules on the patient's arms, trunk, and thighs (arrows). b Ultrasonography of the transversal section of the skin lesion on the patient's lower right arm (open arrowheads).[karger.com]
Swelling of Hand
  • It is characterized by multiple, soft-tissue swellings on hand, forearm, thigh, and abdomen.[scopemed.org]
Irritability
  • Lipomas occur in subcutaneous fat,Lipomas may be located in connective tissues,Lipomas may be attached to skin, muscle or other nearby structures,Palpate as rubbery, moveable, and ovoid to round in shape,Lipomas are not normally painful unless regularly irritated[dailyrounds.org]
  • They tend to be painless, but can cause irritation. Progression of lipomas can lead to disfigurement, impaired mobility, or even disability.[atlanticsurgicalassociates.com]
  • In general, the lipomas are not painful unless irritated or traumatized regularly (1, 2, 10), although it has been reported that the lipomas were painful when growing but not after their size had stabilized (11-13).[lipomadoc.org]
Paresthesia
  • One of them, on the volar aspect of the arm, caused pain and paresthesias. Such as lesions increased in number during the past 10 years, sparing face, neck, scalp and lower limbs. Routine blood analysis were within the normal range.[minervamedica.it]
Delayed Speech and Language Development
  • speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language[rarediseases.info.nih.gov]
Language Delays
  • delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Hypoplasia of the corpus callosum Underdevelopment of[rarediseases.info.nih.gov]

Workup

Karyotype Abnormal
  • No karyotypic abnormalities were detected, which is significant because karyotypic abnormalities are common in sporadic lipomas, and information about karyotypic abnormalities in familial lipomas has been lacking.[mdedge.com]

Treatment

  • Despite his initial critical condition and unsuccessful treatment with steroids, he responded to cyclosporin and remains well 15 years after diagnosis.[ncbi.nlm.nih.gov]
  • Treatment and prognosis The main treatment consists of surgical excision of the lesions responsible for cosmetic and functional impairment.[radiopaedia.org]

Prognosis

  • Treatment and prognosis The main treatment consists of surgical excision of the lesions responsible for cosmetic and functional impairment.[radiopaedia.org]
  • Prognosis MSL is basically a benign condition but in some cases there may be serious physical, cosmetic and psychological repercussions. Associated disorders may affect the prognosis.[orpha.net]
  • Impact of disease free status on prognosis in metastatic non-small round cell soft tissue sarcomas. Clin Exp Metastasis. 2016 Dec;33(8):799-807. DOI: 10.1007/s10585-016-9820-z.[meidai-seikei.jp]

Etiology

  • Etiology The pathogenesis of MSL is not fully understood, but recent findings suggest that it may be related to defective noradrenergic regulation of mitochondria in brown fat.[orpha.net]

Epidemiology

  • Summary Epidemiology MSL primarily affects men and has a sex ratio of 15:1 to 30:1, depending on the region.The disorder may occur in all ethnic groups..[orpha.net]
  • Epidemiology [ 1 ] Lipomas may be seen in all age groups, but usually first appear between 40 and 60 years of age. Solitary lipomas are more common in women. Multiples - referred to as lipomatosis - are more common in men.[patient.info]
  • Without detailed epidemiological research, this number cannot be projected on a larger population and should be seen as a regional prevalence.[journals.lww.com]
Sex distribution
Age distribution

Pathophysiology

  • Haemophagocytic panniculitis is considered as a T-cell disorder, but its exact pathophysiological mechanism has not been clarified.[ncbi.nlm.nih.gov]
  • The pathophysiology of MSL still remains unclear, although several approaches have been described.[journals.lww.com]

Prevention

  • See my lipoma prevention supplement recommendations and please consider donating a small amount via PayPal (click the Donate button) to keep this site up and running. Thx![lipomaboard.com]
  • […] all of you, I feel the doctors consultants just dont want to know, I have asked to be referred to a specialist to see which type I have, all I get in response is there is no point as you arnt going to know anymore than im telling you, and they cant be prevented[patient.info]
  • Awareness of the autosomal-dominant form of this entity is important to prevent its misdiagnosis as neurofibromatosis type I, which has a similar family history and clinical presentation.[mdedge.com]

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