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Participant 043

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Male, age 34 with multiple benign fatty tumors under the skin (adiposis dolorosa, angiolipomatosis)

Date of Report

Dec 14, 2017


In elementary school, the participant was found to have bumps under the skin of his arms. These bumps were biopsied and found to be lipomas.

At the age of 6, he had rectal bleeding and a colonoscopy showed a large juvenile polyp in the sigmoid colon and a smaller juvenile polyp in the hepatic flexure. Since then, he has had 10 colonoscopies, which have shown internal hemorrhoids but no polyps.

At the age of 10, the participant began having migraines 3-4 times per year.

When he was 24 years old, he started having severe stomach pain and was found to have a benign nerve fiber tumor (ganglioneuroma). A diagnosis of neurofibromatosis was suspected which was then ruled out by negative genetic testing.

He has had some of the subcutaneous tumors biopsied which showed that the subcutaneous lesions were angiolipomas. He has tenderness and pain over his angiolipomas which is relieved by Gabapentin. He currently has more than 20 subcutaneous angiolipomas on his legs, arms, abdomen, chest, back, and hips. Surgically removing these angiolipomas relieves the pain associated with them, however, they reappear in almost the exact same spot shortly with the same pain.

He also has 2 birthmarks called café au lait spots on his eye (1) and chest (1). Participant currently struggles with his back symptoms including Scheuermann’s disease, several herniated discs, and arthritis in his neck and spine.

Symptoms / Signs
  • Fatty tumors under the skin (subcutaneous angiolipomas)
  • Benign nerve fiber tumor (ganglioneuroma)
  • Large head size (macrocephaly)
  • Migraine
  • Acid reflux (gastroesophageal reflux)
  • Inflamed stomach lining (gastritis)
  • Intestinal juvenile polyp
  • Sleep apnea
  • Attention deficit hyperactivity disorder
  • Memory impairment
Current Treatments
  • Adderall- attention deficit hyperactivity disorder
  • Zoloft and Trazodone- depression
  • Gabapentin- tumor pain
  • Tizanidine- muscle spasms (back)
  • Omeprazole- acid reflux
  • Topamax- migraine prevention
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Bannayan-Riley-Ruvalcaba syndrome (negative PTEN testing)
  • Birt-Hogg-Dube syndrome (negative trio exome analysis)
  • Cowden syndrome (negative PTEN testing)
  • Neurofibromatosis type 1 (negative NF1 testing)
  • Dercum’s disease (clinical diagnosis)
  • Familial angiolipomatosis
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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