Keratosis follicularis spinulosa decalvans Q82.84

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 10.08.2022

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keratosis pilaris decalvans; keratosis pilaris syndrome; Siemens syndrome I

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Lameris, 1905; Siemens, 1926

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Rare, x-linked dominant heterogeneous genodermatosis characterized by atrophic follicular keratinization abnormalities in typical localization of the common keratosis pilaris (capillitium, face, eyebrows, extensor sides of extremities, thorax, gluteae), scarring alopecia of the scalp, and palmo-plantar keratoses. The disease occurs in full expressivity only in the male sex.

Further inconstantly associated are changes of the nails(leukonychia) as well as other symptoms.

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Probable X-linked dominant inheritance. Localization of a gene defect on the X chromosome, Xp 22.2-p22.13. Mutations in the MBTPS2 gene (Xp22-12-Xp22.11) are detectable.

The MBTPS2 gene (membrane-bound transcription factor protease,site2) is a membrane-bound zinc metalloprotease that controls proteins (SREbPs = sterol regulatory element-binding proteins) that control cholesterol metabolism. Apparently, there are associations with Olmsted syndrome, as both phenotypes were present in a Chinese family. The full-blown disease is found only in the male sex.

Clinical features
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The clinical picture of this generalized follicular keratinization anomaly depends on the localization involved. Keratosis follicularis spinulosa decalvans may affect the body parts covered with vellus hairs (the usual marrowless body hair - picture of stretching, rubbing keratosis pilaris), the area of bristle hairs or also certain areas of long hairs(scarring alopecia). The morphological diversity of the clinical picture often makes its definite classification difficult.

Other associated symptoms include:

  • palmo-plantar keratoses
  • leukonychia
  • keratitis with corneal opacities
  • photophobia
  • persistent ductus botalli and
  • hypospadias.

External therapy
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According to the keratosis follicularis with caring externals. Therapy successes with Acitretin (Neotigason) are described.

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Spontaneous suspension of the process in the 2nd to 3rd decade.

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  1. Alfadley A et al (2002) Two brothers with keratosis follicularis spinulosa decalvans. J Am Acad Dermatol 47(Suppl5): S275-278
  2. Aten E et al.(2010) Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. Hum Mutat 31:1125-1133
  3. Azakli HN et al (2014) Keratosis Follicularis Spinulosa Decalvans Associated wıth Leukonychia. West Indian Med J 63: 552-553.
  4. Bellet JS et al (2008) Keratosis follicularis spinulosa decalvans in a family. J Am Acad Dermatol58:499-502.
  5. Caengprasath N et al. (2021) MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. J Transl Med 19:114.
  6. Dressler A et al (1994) Keratosis follicularis in concomitant keratosis pilaris decalvans. Akt Dermatol 20: 309-12
  7. Fong K et al (2015) Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2. Clin Exp Dermatol 40: 529-532
  8. Harth W et al (1999) Keratosis follicularis spinulosa decalvans with persistent ductus botalli and hypospadias in an Asian patient. Dermatologist 50: 295-298
  9. Lameris HJ (1905) Ichthyosis follicularis. Ned Tijdschr Geneeskd 2: 1524.
  10. Malvankar DD et al (2015) Keratosis follicularis spinulosa decalvans: A Report of Three Cases. Int J Trichology 7:125-128.
  11. Maheswari UG et al (2013) Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. Int J Trichology 5:29-31.
  12. Montesu MA et al (2010) Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. Eur J Dermatol. 20: 850-852.
  13. Siemens HW (1926) Keratosis follicularis spinulosa decalvans. Arch Dermatol Syphil (Berlin) 151: 384-386.


Please ask your physician for a reliable diagnosis. This website is only meant as a reference.


Last updated on: 10.08.2022