Virginia P. Sybert

Virginia P. Sybert

Virginia P. Sybert. is an American medical geneticist and dermatologist.

She is currently working as professor of Medicine and Medical Genetics at University of Washington and is also a board certified physician at the Genetic Medicine Clinic and the Center on Human Development and Disability at University of Washington Medical Center, specialising in medical genetics, dermatology and pediatrics.

Her area of expertise is in inherited disorders of the skin and Turner syndrome.

In 1988 Sybert et al published a paper describing a hereditary palmar-plantar keratoderma distinct from those previously identified, which has since been recognised by the eponymous name palmoplantar keratoderma of Sybert.

  • 1974 – MD, State University of New York at Buffalo, School of Medicine
  • Residency and internship in paediatrics at University of California, San Francisco
  • 1982 – certified with the American Board of Medical Genetics
  • 1979 – certified with the American Board of Pediatrics
  • Fellowship in dermatology at Univeristy of Washington
  • Fellowship in paediatrics at Children’s Hospital and Regional Medical Center, Seattle
  • 2014 awarded Castle Connolly Regional Top Doctor
  • Clinical Professor in Medical Genetics at the University of Washington
  • On the editorial board for Paediatric Dermatology
  • Author of Genetic Skin Disorders
Palmoplantar keratoderma (PPK) of Sybert (1988)

The hereditary palmar-plantar keratodermas are a heterogeneous group of disorders characterized by hyperkeratosis of the palms and soles and distinguishable by other clinical characteristics, associated abnormalities, and mode of inheritance. We report a family with a new autosomal dominant condition with clinical similarities to mal de Meleda and Greither’s disease.

…34-year-old white man first seen with a lifelong history of erythema and scaling of the palms and soles…With age the elbows, knees, backs of the hands, posterior aspects of the forearms, tops of the feet, and anterior aspects of the legs became involved. The hyperkeratosis was so severe that spontaneous amputations and deformities of the digits had occurred

Sybert 1988

The nosology of the palmoplantar keratodermas is complex; disorders have been distinguished by mode of inheritance, sites of involvement, and associated abnormalities. PKK of Sybert is an autosomal dominant inherited PKK characterised by severe erythema, hyperkeratosis, and desquamation with bilateral involvement of the palms and soles with a tendency for lateral and dorsal extension and can result in autoamputation, but there are no systemic features. It is most similar to Greither disease, but is distinguishable clinically and by ultrasound.

PPK of Sybert is differentiated from:

  • Unna-Thost disease: Autosomal dominant condition with variable involvement of the palms and soles. Typically, the lesions are thick, horny, hard, yellowish plaques with waxy smooth surfaces. Has been associated with corneal opacities, sensorineural hearing loss, and hypohidrosis. [Described by Arthur Thost (1854-1937) in 1880 and Paul Gerson Unna (1850-1929) in 1883]
  • Greither disease (keratosis extremitatum hereditaria progrediens): Autosomal dominant condition with diffuse rather than focal palmoplantar keratoderma with hyperkeratotic plaques on the elbows and knees. Marked hyperhidrosis with minimal other clinical findings. Differentiated by its ‘transgrediens nature, that is, involvement of the extensor surfaces of the hands and feet. [Described in 1952 by Aloys Greither (1914-1986)]
  • Vohwinkel syndrome (keratoma hereditaria mutilans) Autosomal dominant disease characterized by diffuse, honeycomb-patterned palmoplantar keratoderma, with constrictions on the fingers and toes leading to autoamputation; and mild to moderate congenital sensorineural hearing loss Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness [Described in 1929 by Dr KH Vohwinkel]
  • Howel–Evans syndrome: Autosomal dominant condition with hyperkeratosis of the skin of the palms of the hands and the soles of the feet. High lifetime risk of oesophageal cancer. Sometimes termed tylosis with oesophageal cancer; Palmoplantar ectodermal dysplasia type III; or tylosis palmaris et plantaris [First described in 1958 by William Howel-Evans (1891–1939)]
  • Mal de Meleda: Autosomal recessive disease that is defined by a diffuse, transgressive palmoplantar erythrokeratoderma with hyperhidrosis and nail changes. Hyperkeratosis of the elbows and knees and perioral erythema may also be present. [Meleda; Italian name for the Croatian island of Mljet  where the first observations were made. [First description in 1934 by Franjo Kogoj (1894–1983)]

Major Publications



Eponymous terms

Dr Charlotte Baker LITFL

Studied at Univerisity of Cambridge - BA MB BChir. British doctor working in emergency medicine in Perth, Australia. Special interests include primary care and emergency medicine.

BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Emergency physician, Sir Charles Gairdner Hospital.  Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |

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