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Keratosis follicularis spinulosa decalvans

Keratosis follicularis spinulosa decalvans is a rare X-linked disorder described by Siemens in 1926. It is a disease that begins in infancy with keratosis pilaris localized on the face, then evolves to more diffuse involvement.[1]: 580, 762 [2]: 649, 714 [3]

Keratosis follicularis spinulosa decalvans
Other namesSiemens-1 syndrome
SpecialtyMedical genetics

An association with SAT1 has been suggested.[4]

See also edit

References edit

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  4. ^ Gimelli, G.; Giglio, S.; Zuffardi, O.; Alhonen, L.; Suppola, S.; Cusano, R.; Lo Nigro, C.; Gatti, R.; et al. (Sep 2002). "Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)". Hum Genet. 111 (3): 235–41. doi:10.1007/s00439-002-0791-6. PMID 12215835. S2CID 23842885.

External links edit


keratosis, follicularis, spinulosa, decalvans, rare, linked, disorder, described, siemens, 1926, disease, that, begins, infancy, with, keratosis, pilaris, localized, face, then, evolves, more, diffuse, involvement, other, namessiemens, syndromespecialtymedical. Keratosis follicularis spinulosa decalvans is a rare X linked disorder described by Siemens in 1926 It is a disease that begins in infancy with keratosis pilaris localized on the face then evolves to more diffuse involvement 1 580 762 2 649 714 3 Keratosis follicularis spinulosa decalvansOther namesSiemens 1 syndromeSpecialtyMedical genetics An association with SAT1 has been suggested 4 See also editKeratosis follicularis Hermann Werner Siemens Cicatricial alopecia List of cutaneous conditionsReferences edit James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10th ed Saunders ISBN 0 7216 2921 0 Freedberg et al 2003 Fitzpatrick s Dermatology in General Medicine 6th ed McGraw Hill ISBN 0 07 138076 0 Rapini Ronald P Bolognia Jean L Jorizzo Joseph L 2007 Dermatology 2 Volume Set St Louis Mosby ISBN 978 1 4160 2999 1 Gimelli G Giglio S Zuffardi O Alhonen L Suppola S Cusano R Lo Nigro C Gatti R et al Sep 2002 Gene dosage of the spermidine spermine N 1 acetyltransferase SSAT gene with putrescine accumulation in a patient with a Xp21 1p22 12 duplication and keratosis follicularis spinulosa decalvans KFSD Hum Genet 111 3 235 41 doi 10 1007 s00439 002 0791 6 PMID 12215835 S2CID 23842885 External links editThis Genodermatoses article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Keratosis follicularis spinulosa decalvans amp oldid 1222639286, wikipedia, wiki, book, books, library,

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