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Keratosis follicularis spinulosa decalvans

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(Redirected from Ichthyosis, keratosis follicularis spinulosa Decalvans) Medical condition
Keratosis follicularis spinulosa decalvans
Other namesSiemens-1 syndrome
SpecialtyMedical genetics

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.

An association with SAT1 has been suggested.

See also

References

  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

ClassificationD
Congenital malformations and deformations of integument / skin disease
Genodermatosis
Congenital ichthyosis/
erythrokeratodermia
AD
AR
XR
Ungrouped
EB
and related
Ectodermal dysplasia
Elastic/Connective
Hyperkeratosis/
keratinopathy
PPK
Other
Other

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

Developmental
anomalies
Midline
Nevus
Other/ungrouped


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