Ashtray syndrome L98.88

Fuchs 1896; Laffer 1909; Ascher 1920;

Unknown; possibly dominant gene (father-daughter observation). Mutation not yet detected. Pathogenetically, after recurrent oedemas the upper eyelid skin sagging and atrophy, hyperplasia of prolapsed orbital fat, double lip as manifestation of post-edematous vascular and connective tissue proliferation.

After the 5th year of life repeated occurrence of painless swelling of the upper eyelids and upper lips, on the upper lids the recurrent swelling is followed by doughy soft upper eyelid bags, formed by slack, atrophic skin. Blood vessels shimmer bluishly through the skin. In the affected children the swelling of the upper eyelids and upper lip is often misinterpreted as angioedema. Only blepharochalasis caused by prolapsed orbital fat and tear gland tissue consolidates the diagnosis. The duplication of the lips (double lip) continues to point the way forward; usually the upper lip is affected, rarely the lower lip.

Euthyroid goiter possible after puberty. In the full picture combination of blepharochalasis, double lip, goiter and endocrine disorders. Edematous lip swelling and blepharochalasis are initially reversible and finally persistent due to fibrous transformation.

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3. Gomez-Duaso AJ et al (1997) Ascher syndrome: report of two cases. J Oral Maxillofac Surgery 55: 88-90
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6. Laffer WB (1909) Blepharochalasis. Report of a case of this trophoneurosis, involving also the upper lip. Cleveland Med J 8: 131-135
7. Parmar RC et al (2004) A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly. Am J Med Genet 124A: 200-201