Keratosis follicularis spinulosa decalvans

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Classification according to ICD-10
Q82.84 Other specified congenital skin malformations
ICD-10 online (WHO version 2019)

The keratosis follicularis spinulosa decalvans is a very rare, genetically determined skin disease that occurs in childhood . Synonyms are: Siemens I syndrome , Keratosis follicularis decalvans , Keratosis pilaris decalvans .

It was first described by HJ Lameris in 1905 as "Ichthyosis follicularis". The current name was coined in 1926 by the German dermatologist Hermann Werner Siemens .

Spread and cause

The frequency is given as less than 1 in 1,000,000. The disease mainly affects boys. There is an X-chromosomal - recessive and autosomal dominant form.

  • The X-linked form (KFSDX, keratosis follicularis spinulosa decalvans cum ophiasis) is based on mutations in the MBTPS2 gene at location Xp22.12-p22.11 or in the SAT1 gene at location Xp22.11.
  • In the autosomal dominant form (KFSD), the cause is not known.

Clinical manifestations

Diagnostic criteria are:

  • Eye symptoms shortly after birth, corneal dystrophy with corneal opacity
  • Progressive scarring alopecia of the scalp, eyebrows and eyelashes
  • Diffuse follicular hyperkeratosis in the face, neck, forearms and back of the hands, mucous membranes and nails are not affected.
  • Occasional self-healing with entry into adulthood

In addition to photophobia , facial erythema and palmar-plantar keratoderma come.

Differential diagnosis

The following are to be distinguished:

Prospect of healing

The disease is self-limiting in the 2nd to 3rd decade of life.

literature

  • D. Helbig, S. Grabbe, T. Jansen: Keratosis follicularis spinulosa decalvans. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 59, No. 1, January 2008, pp. 46-49, ISSN  1432-1173 . doi : 10.1007 / s00105-007-1357-2 . PMID 17551700 .
  • G. Richard, JC Oosterwijk: Keratosis follicularis spinulosa decalvans. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 49, No. 1, January 1998, pp. 61-62, ISSN  0017-8470 . PMID 9522196 .
  • G. Richard, W. Harth: [Keratosis follicularis spinulosa decalvans. Therapy with isotretinoin and etretinate in the inflammatory stage]. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Volume 44, Number 8, August 1993, pp. 529-534, ISSN  0017-8470 . PMID 8376108 .
  • R. Happle: [X-chromosome-linked hereditary dermatoses]. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Volume 33, Number 2, February 1982, pp. 73-81, ISSN  0017-8470 . PMID 6804414 . (Review).
  • U. Köhler, W. Müller, H. Schubert, B. Lukassek: Contribution to the Siemens-I syndrome. In: Clinical monthly sheets for ophthalmology. Vol. 179, No. 2, August 1981, pp. 123-127, ISSN  0023-2165 . doi : 10.1055 / s-2008-1057277 . PMID 7347783 .

Individual evidence

  1. ↑ a b c Keratosis follicularis spinulosa decalvans. In: Orphanet (Rare Disease Database).
  2. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. ↑ Lameris: Ichthyosis follicularis. In: Nederlands tijdschrift voor geneeskunde , 1905, vol. 41, p. 1524
  4. ^ HW Siemens: Keratosis follicularis spinulosa decalvans. in: Dermacol archive. Syphilol. , 1926, Vol. 151, pp. 384-386
  5. ↑ KFSDX.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ KFSD.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ a b Peter Altmeyer: Encyclopedia of Dermatology, Allergology, Environmental Medicine Springer (online) 2017