Xeroderma pigmentosum

Description

Xeroderma pigmentosum (XP): rare autosomal recessive disorder of DNA repair characterised by photosensitivity, progressive pigmentary change, and an increased incidence of ultraviolet (UV)-induced skin and mucous membrane cancers.


History

1870Hebra and Kohn (Kaposi) first described a disease of the skin they termed xeroderma which was ‘peculiar to early life, presenting polymorphous lesions and a complexity of symptoms, chronic and unending in its course, indelible in its disfigurements, prone even from its benign lesions to impair or destroy vision, to more or less disfigure and destroy the ears, nose, and mouth, and by its malignant new-growths to lead to death‘. [Lehrbuch der Hautkrankheiten. 1870; 511-515]

1874 – Kaposi further described four patients with xeroderma or ‘pergamenthaut‘ (parchment skin) in Vol III of his textbook of dermatology (Hebra and Kaposi 1874)

1878 – RW Taylor, New York reported the first XP patients in the US at the inaugural meeting of the American Dermatological Association. In 1888 he reviewed the world literature and reported a total of 40 cases.

1882 – Kaposi expounded on the essential role of the ”pigment abnormalities’ in the disease and suggested the name Xeroderma pigmentosum.

In addition to the parchment-like dryness, thinness, and wrinkling of the epidermis, the checkered pigmentation, and the small dilatations of the vessels, the most remarkable symptoms were the contraction and, at the same time, thinning of the skin.

Kaposi 1882

1883 – Albert Neisser, Breslau reported progressive neurologic degeneration in two siblings with XP beginning in the second decade. 2011 case reports suggest up to 25% of XP patients in the US develop progressive neurological degeneration.

1890 – Kaposi spoke at the meeting of the Society of Dermatology in Vienna as the ‘first discoverer of this disease‘ and advocated the name ‘Xeroderma pigmentosum‘ be used.

1926 – M Per summarised the state of understanding of the disease

  1. XP is due to an extreme sensitization of the skin to ultra-violet rays of the sun.
  2. This congenital insufficient resistance of the skin to the actinic rays seems to be dependent on the consanguinity of the parents.
  3. Photodynamic substances in the organism (haematoporphyrin) do not play any part in the pathogenesis of this disease.
  4. The actinic rays of the sun produce an unquestionably unfavourable influence on the course of xeroderma pigmentosum.
  5. Medical preventive measures have a high value in this disease. However, notwithstanding detailed pathological studies of the disease … no one has succeeded in making clear the obscure pathogenesis of this disease. – Per M. 1926;38(6):241–252.

Associated Persons


Alternative names

  • Kaposi dermatosis
  • Atrophoderma pigmentosum

References


eponymictionary CTA

eponymictionary

the names behind the name

Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books |

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