- A dictionary of medical eponyms

Siemens' syndrome I

Alternative eponyms

  • Touraine’s polykeratosis

Related people

A familial form of keratosis involving the face, neck, forearms, ears, palms and soles, and backs of the hands.

Description

A familial form of keratosis present from birth. It involves the face, neck, forearms, ears, palms and soles, and backs of the hands, and is associated with loss of the eyebrows, eyelashes, and beard, thickening of the eyelids, blepharitis, ectropion, and corneal abnormalities (punctate lesions). Photophobia and lacrimation are the early symptoms. Only males show the complete picture, the heterozygotous carriers, partial expression. Inheritance is X-linked, but autosomal dominant transmission has also been reported.

First described by Lechleuthner and Siemens in 1925, this syndrome resembles incontinentia pigmenti (Bloch Sulzberger syndrome). Siemens in 1929 described several cases in detail and applied the term "melanosis corii degenerativa." [A. Franceschetti and W. Jadassohn: Dermatologica, Basel, 1954, 108: 1.]

Bibliography

  • Hiddo Jan Laméris (born 1872)
    Ichtyosis follicularis.
    Nederlandsch Tijdschrift voor Geneeskunde, Amsterdam, 1905, 41: 1524.
  • H. W. Siemens:
    Über einen in der menschlichen Pathologie noch nicht beobachteten Vererbungsmodus: Dominant-geschlechtsgebundene Vererbung.
    Archiv für Rassen- und Gesellschafts-Biologie einschließlich Rassen- und Gesellschafts-Hygiene, München, 1925, 17: 47-61. Keratosis follicularis spinulosa decalvans.
    Archiv für Dermatologie und Syphilis, Berlin, 1926, 151: 384-386.

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