Ascher Syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Ascher syndrome is a very rare congenital Dysmorphiesyndrom with a combination of Blepharochalasis , "double lip" (a special fold of the oral mucosa) and in 10-50% of euthyroid goitre .

Synonyms are: blepharochalasia-double lip syndrome; Laffer-Ascher Syndrome

The name refers to the description as a syndrome from the year 1920 by Karl Ascher as well as to the presumed first description by WB Laffer from the year 1909.

Spread and cause

The frequency is given as less than 1 in 1,000,000, so far fewer than 20 people have been reported. The cause is not known.

Clinical manifestations

Clinical criteria are:

  • Manifestation mostly after the age of 5 with initially repeated painless swellings of the upper eyelid and upper lip, then increasing slackening of the eyelid skin with edema-like swellings, skin atrophy with shimmering blood vessels, narrowing of the eyelid gap
  • in about 80% development of blepharochalasis with orbital fat and lacrimal tissue that have prolapsed into the upper eyelid sacs , mostly on both sides
  • rarely impaired vision
  • special fold of the oral mucosa "double lip" mostly on the upper lip with a strong increase in blood vessels and connective tissue
  • after puberty , the development of a euthyroid goiter is possible

In addition, there can be hypertelorism , ptosis , widened nose with a broad tip, high palate, bilateral clinodactyly of the middle finger.

diagnosis

The diagnosis is based on clinical findings.

Differential diagnosis

Must be distinguished are a angioedema that granulomatous cheilitis and the Melkersson-Rosenthal syndrome .

therapy

The treatment can be functional and cosmetic as a surgical correction.

literature

  • DD Uner, BS Izol: Ascher syndrome: A case report. In: Nigerian journal of clinical practice. Volume 22, Number 7, July 2019, pp. 1029-1031, doi : 10.4103 / njcp.njcp_661_18 , PMID 31293273 .
  • ZL Zhao, SM Wang, CY Shao, Y. Fu: Ascher syndrome: a rare case of blepharochalasis combined with double lip and Hashimoto's thyroiditis. In: International journal of ophthalmology. Volume 12, number 6, 2019, pp. 1044-1046, doi: 10.18240 / ijo.2019.06.26 , PMID 31236366 , PMC 6580220 (free full text).
  • V. Gupta, S. Khandpur: Blepharochalasis with double lip: A case of Ascher syndrome. In: Indian journal of dermatology, venereology and leprology. Volume 81, number 6, 2015 Nov-Dec, p. 651, doi: 10.4103 / 0378-6323.158645 , PMID 26515861 .
  • S. Molina, P. Medard, M. Galdeano: Ascher syndrome: report of a case with early manifestations. In: Craniomaxillofacial trauma & reconstruction. Volume 8, number 2, June 2015, pp. 150–152, doi: 10.1055 / s-0034-1395881 , PMID 26000088 , PMC 4428727 (free full text).
  • O. Belhadj, Z. Hafidi, N. Boutimzine, H. Handor, M. Laghmari, S. Berradi, R. Daoudi: Syndrome d'Ascher Laeffer: à propos d'un cas. In: Journal francais d'ophtalmologie. Volume 38, number 4, April 2015, pp. E71 – e72, doi: 10.1016 / j.jfo.2014.05.022 , PMID 25840616 .
  • BA Ramesh: Ascher syndrome: Review of literature and case report. In: Indian journal of plastic surgery: official publication of the Association of Plastic Surgeons of India. Volume 44, number 1, January 2011, pp. 147-149, doi: 10.4103 / 0970-0358.81468 , PMID 21713204 , PMC 3111109 (free full text).

Individual evidence

  1. ↑ a b c d Ascher syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ a b c Encyclopedia Dermatology
  3. ↑ a b c 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 .
  4. ↑ Who named it
  5. ↑ KW Ascher: Blepharochalasis with goiter and double lip. In: Clinical monthly sheets for ophthalmology. Vol. 65, 1920, pp. 86-97
  6. ^ WB Laffer: Blepharochalasis. Report of a case of this trophoneurosis, involving also the upper lip. In: Cleveland Medical Journal Vol. 8, pp. 131-135, 1909 Archives
  7. ↑ Blepharochalasis And Double Lip.  In: Online Mendelian Inheritance in Man . (English)

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