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Cutaneous manifestations of familial hypercholesterolaemia
  1. Dayanidhi Meher1,
  2. Deep Dutta2,
  3. Raiz Ahmad Misgar3
  1. 1Department of Endocrinology, Kalinga Institute of Medical Sciences (KIMS), Bhubaneswar, India
  2. 2Department of Endocrinology, Post Graduate Institute of Medical Education & Research (PGIMER), and Dr. Ram Manohar Lohia (RML) Hospital, New Delhi, India
  3. 3Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India
  1. Correspondence to Dr Deep Dutta, Department of Endocrinology, Post Graduate Institute of Medical Education & Research (PGIMER), Dr. Ram Manohar Lohia (RML) Hospital, New Delhi 110001, India; deepdutta2000{at}

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A 12-year-boy presented with multiple soft tissue swelling over the buttocks and feet, progressively increasing for last 4 years. Examination revealed multiple tuberous xanthomas of various sizes (2–8 cm diameter) studded over the buttocks (figure 1A; black arrows), multiple planar xanthomas over bilateral elbows and knees (figure 1B, C; white arrows), multiple tendinous xanthomas over the Achilles tendon, dorsum and lateral aspect of both feet (figure 1D; hollow black arrows), small xanthoma over the back of the left ear (figure 1F; hollow white arrow), xanthelasma over the lateral aspect of the right eyelid (figure 1G; hollow white arrow) and bilateral corneal arcus. Systemic examination was normal. Investigations showed elevated total cholesterol (TC) (15.98 mmol/L), elevated low-density lipoprotein (LDL) (12.92 mmol/L), normal triglycerides (0.89 mmol/L) and high-density lipoprotein (HDL) (0.98 mmol/L) …

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  • Contributors DM initially examined the patient. DD and RAM did family member screening and evaluation. DM and DD did biochemical evaluation. All authors contributed equally towards manuscript preparation.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.