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Yellowish intertriginous plaques in a young girl: a clue to homozygous familial hypercholesterolaemia
  1. Riti Bhatia1,
  2. Atreyo Chakraborty1,
  3. Prashant Durgapal2,
  4. Rohit Walia3,
  5. Daljit Kaur4
  1. 1Dermatology and Venereology, All India Institute of Medical Sciences, Rishikesh, India
  2. 2Pathology, All India Institute of Medical Sciences, Rishikesh, India
  3. 3Cardiology, All India Institute of Medical Sciences, Rishikesh, India
  4. 4Transfusion medicine, All India Institute of Medical Sciences, Rishikesh, India
  1. Correspondence to Dr Riti Bhatia, All India Institute of Medical Sciences, Rishikesh, Uttarakhand 249203, India; ritibhatia_aiims{at}yahoo.com

http://dx.doi.org/10.1136/postgradmedj-2019-137290

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    A 19-year-old young girl presented for evaluation of multiple yellowish plaques on web spaces of hands, cubital fossa, popliteal fossa, thighs and around eyelids (figure 1A,B). These plaques were first noticed at the age of 7 years. Corneal arcus was seen bilaterally (figure 1C). Similar complaints were present in her younger brother who had died at the age of 15 years from sudden cardiac death.

    Figure 1

    (A) Corneal arcus and yellowish plane xanthomas symmetrically involving supraorbital area. (B) Symmetrical involvement of cubital fossa with yellowish plane xanthomas. (C) Involvement of web spaces of bilateral hands with yellowish plane intertriginous xanthomas. (D) Aggregates of foamy histiocytes throughout the dermis (H&E stain, ×200).

    Serum fasting lipid profile revealed elevated total cholesterol (39.8 mmol/L, normal …

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    Footnotes

    • Contributors Each author has contributed sufficiently. RB and AC managed the case and made the diagnosis, clinically. RB submitted the manuscript. RB and AC wrote the manuscript. RB, AC and DK managed the case. PD made the histopathological diagnosis and provided photomicrographs.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

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