Reed syndrome

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Classification according to ICD-10
C64 Malignant neoplasm of the kidney, excluding the renal pelvis
ICD-10 online (WHO version 2019)

The Reed syndrome (familial leiomyomatosis) is a very rare hereditary disease with the occurrence of numerous leiomyomas predominantly in the skin , but also in the internal organs and the possibility of degeneration .

Synonyms are: familial leiomyomatosis with renal carcinoma; Familial multiple cutaneous leiomyomas; HLRCC; Hereditary multiple cutaneous leiomyomas; Hereditary leiomyomatosis; Leiomyomas, cutaneous multiple, familial form; MCUL; Multiple leiomyomas, cutaneous and uterine; Reed syndrome

The name refers to the first author of a description from 1973 by William B. Reed, R. Walker and Richard Horowitz.

distribution

The frequency is not known, about 300 affected families have been reported to date, inheritance is autosomal dominant .

root cause

Of the disease are mutations in FH (HLRCC) - gene on chromosome 1 locus q43 based on that for fumarate hydratase encoded.

Clinical manifestations

Clinical criteria are:

  • Nodules in the skin, often in the upper arm , but also in the legs, trunk and face
  • increase in the number of leiomyomas over decades
  • often leiomyomas of the uterus
  • associated with papillary renal cell carcinoma

history

The first description of hereditary leiomyomas comes from 1958 by HW Kloepfer and colleagues. The combination with uterine leiomyomas was described by EJ Rudner and colleagues in 1964.

literature

  • P. Fernández Canga, J. Castiñeiras González, P. Sánchez Sambucety: Atypical presentation of Reed syndrome. In: Medicina clinica. [electronic publication before printing] November 2018, doi: 10.1016 / j.medcli.2018.09.010 , PMID 30470440 .
  • SL Skala, SM Dhanasekaran, R. Mehra: Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma. In: Archives of pathology & laboratory medicine. Volume 142, number 10, October 2018, pp. 1202-1215, doi: 10.5858 / arpa.2018-0216-RA , PMID 30281371 .
  • T. Hsu, LA Cornelius, IS Rosman, KM Nemer: Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome). In: JAAD case reports. Volume 3, number 5, September 2017, pp. 407-409, doi: 10.1016 / j.jdcr.2017.06.007 , PMID 28884140 , PMC 5581856 (free full text).
  • C. Wang, M. Tetzlaff, R. Hick, M. Duvic: Reed syndrome presenting with leiomyosarcoma. In: JAAD case reports. Volume 1, number 3, May 2015, pp. 150–152, doi: 10.1016 / j.jdcr.2015.02.004 , PMID 27051714 , PMC 4808709 (free full text).

Individual evidence

  1. ↑ a b c Hereditary leiomyomatosis with renal cell cancer. In: Orphanet (Rare Disease Database).
  2. ↑ a b Encyclopedia Dermatology
  3. ^ WB Reed, R. Walker, R. Horowitz: Cutaneous leiomyomata with uterine leiomyomata. In: Acta dermato-venereologica. Volume 53, Number 5, 1973, pp. 409-416, PMID 4127477 .
  4. ^ Genetics Home Reference
  5. ↑ Leiomyomatosis and renal cell cancer.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ HW Kloepfer, J. Krafchuk, V. Derbes, J. Burks: Hereditary multiple leiomyoma of the skin. In: American Journal of Human Genetics . Volume 10, Number 1, March 1958, pp. 48-52, PMID 13520698 , PMC 1931875 (free full text).
  7. ↑ EJ Rudner, OD Schwartz, J: N. Grekin: MULTIPLE CUTANEOUS LEIOMYOMA IN IDENTICAL TWINS. In: Archives of dermatology. Volume 90, July 1964, pp. 81-82, PMID 14149729 .

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