Do you know this syndrome?

Abstracts

A síndrome de Ascher (SA), um subtipo de0 anetodermia, é rara e caracterizada por apresentar em associação, com maior ou menor expressividade, relaxamento da pele das pálpebras, edema de lábio superior e aumento da tireóide. A etiologia é desconhecida, mas há evidências de defeito nas fibras elásticas, que se apresentam fragmentadas ou diminuídas. Relata-se o caso de paciente de 16 anos de idade, com queixa única: episódios recorrentes de edema bipalpebral.

Blefaroplastia; Dapsona; Pálpebras

SYNDROME IN QUESTION

Do you know this syndrome?^*

Roberta Rodrigues Infante Vieira Carraro^I; Alexsandra da Silva Pacheco^II; Daniela Zanardi^III; Jorge José de Souza Filho^IV

^IVisiting Physician at the Department of Dermatology, Hospital Universitário da Universidade Federal de Santa Catarina – HU/UFSC - Florianópolis (SC), Brazil

^IIResident Doctor at the Department of Dermatology, Hospital Universitário da Universidade Federal de Santa Catarina – HU/UFSC - Florianópolis (SC), Brazil

^IIIResident Doctor at the Department of Dermatology, Hospital Universitário da Universidade Federal de Santa Catarina – HU/UFSC - Florianópolis (SC), Brazil

^IVFull Professor at the Department of Internal Medicine at Universidade Federal de Santa Catarina - UFSC. Chairman of the Department of Dermatology, University Hospital, Universidade Federal de Santa Catarina – HU/UFSC - Florianópolis (SC), Brazil

^{Correspondence}

ABSTRACT

Ascher's Syndrome, a subtype of anetodermia, is a rare disease characterized by the association, in different degrees, of upper eyelid laxity, lip swelling and increase in thyroid size. Its etiology is unknown, but there is evidence for a defect in elastic fibers, which are either fragmented or decreased in number. A case is reported of a 16-year-old patient with a single complaint: recurrent episodes of bilateral eyelid edema.

Keywords: Blepharoplasty; Dapsone; Eyelids

CASE REPORT

Eighteen-year-old, single, white female patient, student, born in and coming from Santo Amaro (SC), came to the Dermatology Outpatient Clinic with the complaint of recurrent bilateral eyelid edema, otherwise asymptomatic, for approximately five years. She had already sought medical assistance, but had had no treatment due to lack of diagnosis. Claimed no previous diseases or similar cases in the family.

Upon dermatological examination, presented lax skin in upper lids with a redundant local fold, reaching the level of eyelashes (Figures 1 and 2), with no other abnormalities.

A face computerized tomography scan had been requested in 2002, revealing a discrete thickening of the skin and subcutaneous tissue in the periorbitary region, with no other alterations. Laboratorial tests (blood count, blood glucose, renal and hepatic function, thyrostimulating hormone, free T4, anti-thyroid antibodies) in November/2004 were all normal, and thyroid ultrasonography indicated goiter with no nodules. Skin histopathological examination evidenced an epidermis with no particularities and a dermis with a slight mononuclear cell infiltration. Staining for elastic fibers showed, in the papillary dermis, fragmentation of elastic fibers (Figure 3).

WHAT IS THIS SYNDROME?

Ascher's syndrome

With data obtained from history and physical examination, the main diagnostic hypothesis elaborated was that of Ascher's syndrome (AS), followed by bleopharochalasia. Such diagnosis was then confirmed by histopathological examination and laboratorial tests, leading to the onset of treatment (in nov/2004) with dapsone 50 mg/day, in an attempt to decrease the evolution of the process, until arrangement of a possible blepharoplasty. Since patient evolved with hemolytic anemia, medication was discontinued, and she is currently waiting for surgery.

AS was described for the first time in 1920 and, since then, a little over 50 cases have been presented in literature. It may be that such slenderness of cases is due to little knowledge and small quantity of existing studies, not to mention subdiagnosis.¹

Classified as a subtype of anetodermia, it is a rare syndrome, characterized by the variably expressive association of eyelid skin laxity (blepharochalasia) and upper lip edema (with a double lip appearance).² Thyroid increase, usually asymptomatic, is present in only 10% of cases, even though it has been originally described as a part of this syndrome.^3,4

Etiology is unknown, but there is evidence for a defect in elastic fibers, which are either fragmented or decreased in number. Likely described etiological hypotheses are dominant autosomic inheritance, hormonal and allergic dysfunction, also being considered a traumatic origin.⁵

A certain degree of blepharochalasia, related to atrophic skin and eyelashes relaxation, is common in aging, but uncommon in young persons, being reported as recurrent episodes of bilateral eyelid edema, elastic tissue disease, lax cutis, or of idiopathic origin.¹ The greatest differentiation between AS and blepharocalasia is in histopathology, where a small presence or total absence of elastic fibers in the compromised tissue is seen associated to the atrophic skin in the second condition.

In up to 80% of the cases, symptoms appear before age of 20, developing as an almost simultaneous eyelid and upper lip edema, with abrupt onset. Lower eyelid edema is only noted in severe cases.⁴

There is no efficable treatment, the only one being repair of damages caused by skin laxity by means of plastic surgery.

ACKNOWLEDGEMENTS

We thank our friends Dr. Caroline do Carmo Galindo, Dr. Gabriela Di Giunta and Dr. Rosa Maria Mazzuco, without whose decisive participation this work could not have been done.

REFERENCES

Received on November 11, 2005.

Approved by the Consultive Council and accepted for publication on January 30, 2006.

Conflict of interest: None

• 1. Gomes-Duaso AJ, Seoane J, Vozquez-Garcia J, Arjona C. Ascher syndrome: report of two cases. In J Oral Maxillofac Surg. 1997;55:88-90.
• 2. Kara IG, Kara CO. Ascher syndrome. Otolaryngol Head Neck Surg. 2001;124:236-7.
• 3. Krug-Jeromonim J, Pisera P. Ascher's syndrome: report of 2 cases. Pol Merkuriusz Lek. 1999;7:275-6.
• 4. Sanchez MR, Lee M, May JA, Ostreicher R. Ascher syndrome: a mimicker of acquired angiedema. J Am Acad Dermatol. 1993;29:650-1.
• 5. Alkan A, Metin M. Maxillary double lip: report of two cases. J Oral Sci. 2001;43:69-72.

*

Work done at University Hospital of Universidade Federal de Santa Catarina – HU/UFSC - Florianópolis (SC), Brazil.

Publication Dates

• Publication in this collection
  24 July 2006
• Date of issue
  June 2006

History

• Received
  11 Nov 2005
• Accepted
  30 Jan 2006