Rosenthal-Klöpfer syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
M89.4 Other hypertrophic osteoarthropathy
ICD-10 online (WHO version 2019)

The Rosenthal-Klöpfer syndrome (obsolete) is a very rare congenital disease with a combination of acromegaly , cutis verticis gyrata and corneal scars (leucoma, leucoma corneae ). Today the disease is referred to as familial pachydermoperiostosis (primary hypertrophic osteoarthropathy).

Synonyms are: acromegaly-cutis verticis gyrata-corneal leukoma syndrome; Familial pachydermoperiostosis

The name refers to the authors of the first description from 1962 by the doctors J. William Rosenthal and H. Worner Kloepfer.

The syndrome is not to be confused with Rosenthal syndrome (factor XI deficiency) or Melkersson-Rosenthal syndrome .

Spread and cause

The frequency and cause are not known; inheritance is autosomal dominant .

Clinical manifestations

Clinical criteria are:

  • Acromegaly with circumscribed overgrowth, especially of bones and skin
  • furrowed skin on the face and head (cutis verticis gyrata)
  • Corneal opacity with corneal scars (leukoma)

literature

  • R. Shah, A. Shah, J. Dadhania, K. Kachhadiya, P. Dhamelia: A Case Report of Rosenthal-Kloepfer Syndrome. In: The indian practitioner. 2016, Vol. 69, No. 2, [1]

Individual evidence

  1. ↑ a b c acromegaly-cutis verticis gyrata-corneal leukoma syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ JW Rosenthal, HW Kloepfer: An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome. A new medical entity. In: Archives of ophthalmology. Volume 68, December 1962, pp. 722-726, PMID 13974983 .
  3. ↑ acromegaloid changes, cutis verticis gyrata, And Corneal leucoma.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ JB Harbison, CM Nice: Familial pachydermoperiostosis presenting as an acromegaly-like syndrome. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Volume 112, Number 3, July 1971, pp. 532-536, PMID 5570364 .

Web links