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Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology
Author(s) -
O'Blenes Catherine,
Pasternak Sylvia,
Issekutz Andrew,
Gillis Jane,
Chowdhury Dhiman,
Finlayson Laura
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12124
Subject(s) - genodermatosis , epidermodysplasia verruciformis , medicine , pathology , mucocutaneous zone , mutation , dyskeratosis congenita , point mutation , dermatology , virology , biology , virus , telomere , genetics , gene , disease
Lipoid proteinosis ( LP ) is a rare autosomal recessive genodermatosis caused by mutations in extracellular matrix protein 1 ( ECM 1) that involves deposition of basement membrane–like material in the skin and other organs. Epidermodysplasia verruciformis ( EV ) is also a rare autosomal recessive genodermatosis involving susceptibility to human papillomavirus ( HPV ) infections and squamous cell carcinoma, caused in most cases by homozygous mutations in EVER 1 or EVER 2. We describe a case of EV in a patient with LP and discuss the pathophysiology. A 3‐year‐old Lebanese girl presented with hoarseness, beaded papules along the eyelid margins, waxy papules and plaques on her head and neck, and lichenoid verrucous papules on the forearms and hands. Histopathology of the waxy papules exhibited deposition of periodic acid Schiff–positive basement membrane–like material in the superficial dermis, characteristic of LP . The verruca plana–like lesions exhibited acanthosis and enlarged keratinocytes with pale blue‐grey cytoplasm and a perinuclear halo, consistent with verrucae and EV . Polymerase chain reaction amplification and sequencing of ECM 1, EVER 1, and EVER 2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM 1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER 2, known to cause EV in homozygous patients. The homozygous point mutation c.389C>T in ECM 1 may be a novel mutation causing LP . Verruca plana–like lesions seen in LP appear to represent a form of acquired EV . In this patient, a heterozygous mutation in EVER 2 at c.917 A>T may also have conferred susceptibility to HPV infection.