IllnessLipomatosis, differential diagnosis

NGS +

[Sanger]

The term lipomatosis encompasses numerous clinicopathologic syndromes, all of which are rare. These include diffuse (asymmetric or congenital) lipomatosis, a proliferation of adipose tissue affecting large portions of an extremity or the trunk; symmetric lipomatosis (Madelung's disease), a symmetric proliferation of adipose tissue affecting mainly the neck; pelvic lipomatosis, a proliferation of adipose tissue around the rectum and bladder; Steroid lipomatosis, a diffuse proliferation of adipose tissue affecting axial areas and associated with prolonged steroid exposure; nevus lipomatosus cutaneus superficialis (including Michelin tire baby syndrome), accumulations of adipose tissue occurring along skin folds; and several other rare syndromes. The histologic appearance of all syndromes is similar, with overgrowth of mature adipose tissue. The inheritance patterns are often autosomal dominant or multifactorial. The DNA diagnostic yield is ultimately unknown but very low, may be somewhat increased by next-generation sequence analysis of known lipomatosis-associated genes. Therefore, an inconspicuous molecular genetic result by no means excludes the clinical diagnosis.

References: [https://www.ncbi.nlm.nih.gov/books/NBK153722/

[https://www.ncbi.nlm.nih.gov/books/NBK1520/

www.ncbi.nlm.nih.gov/books/NBK1488/]

• Alias: Dercum disease, adipose tissue rheumatism, neurolipomatosis, lipomat. dolorosa, adiposalgia
• Alias: Familial multiple lipomatosis, Madelung disease
• Allelic: Adenoma, periampullary, somatic (APC)
• Allelic: Adenomatous polyposis coli (APC)
• Allelic: Adrenal adenoma, somatic (MEN1)
• Allelic: Angiofibroma, somatic (MEN1)
• Allelic: Brain tumor-polyposis syndrome 2 (APC)
• Allelic: Breast cancer, somatic (PIK3CA)
• Allelic: Breast cancer, somatic /AKT1)
• Allelic: CLAPO syndrome, somatic (PIK3CA)
• Allelic: Carcinoid tumor of lung (MEN1)
• Allelic: Colorectal cancer, somatic (AKT1)
• Allelic: Colorectal cancer, somatic (APC)
• Allelic: Colorectal cancer, somatic (FLCN)
• Allelic: Colorectal cancer, somatic (PIK3CA)
• Allelic: Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
• Allelic: Desmoid disease, hereditary (APC)
• Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
• Allelic: Gastric cancer, somatic (APC)
• Allelic: Gastric cancer, somatic (PIK3CA)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Hartsfield syndrome (FGFR1)
• Allelic: Hepatoblastoma, somatic (APC)
• Allelic: Hepatocellular carcinoma, somatic (PIK3CA)
• Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Allelic: Jackson-Weiss syndrome (FGFR1)
• Allelic: Keratosis, seborrheic, somatic (PIK3CA)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Macrodactyly, somatic (PIK3CA)
• Allelic: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
• Allelic: Meningioma (PTEN)
• Allelic: Multiple endocrine neoplasia 1 (MEN1)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Neurofibromatosis-Noonan syndrome (NF1)
• Allelic: Nevus, epidermal, somatic (PIK3CA)
• Allelic: Nonsmall cell lung cancer, somatic (PIK3CA)
• Allelic: Osteoglophonic dysplasia (FGFR1)
• Allelic: Ovarian cancer, somatic (AKT1)
• Allelic: Ovarian cancer, somatic (PIK3CA)
• Allelic: Parathyroid adenoma, somatic (MEN1)
• Allelic: Pfeiffer syndrome (FGFR1)
• Allelic: Pneumothorax, primary spontaneous (FLCN)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Trigonocephaly 1 (FGFR1)
• Allelic: Watson syndrome (NF1)
• Allellic: Proteus syndrome, somatic (AKT1)
• Birt-Hogg-Dube syndrome (FLCN)
• CLAPO: Capill. malform. lower Lip, lymph. malform. face/neck, Asymmetry, Part./gen. Overgr. (PIK3CA)
• CLOVE [Congenital Lipomatous Overgrowth Vascular malformations, Epidermal nevi] (PIK3CA)
• Cowden syndrome 1 [Macrocephaly, multiple lipomas, hemangiomata] (PTEN)
• Cowden syndrome 5 (PIK3CA)
• Cowden syndrome 6 (AKT1)
• Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
• FH or FAO: FibroAdipose Hyperplasia or Overgrowth (PIK3CA)
• Gardner syndrome (APC)
• HHML: HemiHyperplasia Multiple Lipomatosis (PIK3CA)
• Klippel-Trenaunay syndrome (PIK3CA)
• Legius syndrome (SPRED1)
• Lipodystrophy, familial partial, type 6 (LIPE)
• Lipoma, somatic (MEN1)
• MCAP or M-CM: Megalencephaly-CAPillary Malformation (PIK3CA)
• MPPH: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome (PIK3CA)
• Neurofibromatosis, type 1 (NF1)
• PROS: PIK3CA-related overgrowth spectrum (PIK3CA)
• Pierpont syndrome [plantar lipomatosis, unusual face, developmental delay] (TBL1XR1)
• SOLAMEN: Segmental overgrowth, lipomatosis, arteriovenous malform., epidermal nevi (PTEN)
• Symmetric circumferential skin creases, congenital, 1 (TUBB)
• Symmetric circumferential skin creases, congenital, 2 (MAPRE2)