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Ascher syndrome: Report of two cases
ASCHER SYNDROME
88 15. Cahan WG, Woodward HQ, Higgenbotham NL, et al: Sarcoma arising in irradiated bone: Report of 11 cases. Cancer 1:3, 1948 16. Huvos AG, Woodard HQ, Cahan WG, et al: Postradiation osteogenic sarcoma of bone and soft tissue: A clinicopathologic study of 66 patients. Cancer 55:1244, 1985 17. Blitzer A, Lawson W, Zak FG, Biller HF, Som ML: Clinical-pathological determinations in prognosis of fibrous his-
J Oral Maxillofac 55:88-90, 1997
tiocytomas of head and neck. Laryngoscope 91:2053, 1981 18. Weiner M, Sedlis M, Johnston AD, et al: Adjuvant chemother;1;;;f malignant fibrous histiocytoma of bone. Cancer 51:25, 19. Barnes L: Tumors and tumorlike lesions of the soft tissue, in Barnes L (ed): Surgical Pathology of the Head and Neck. New York, NY, Dekker, 1985, pp 725-880
Surg
Ascher Syndrome: Report
of Two Cases
ANSELMO J. GOMEZ-DUASO, JESUS VAZQUEZ-GARCIA, MD,* Ascher syndrome, first described in 1920,’ involves recurrent episodes of lid and lip swelling resulting in blepharochalasisand double lip. In approximately 10% of the cases,a eutyroid goiter is present. Two casesof Ascher syndrome, with lid and lip lesions are presented. One of the caseshad a eutyroid goiter.
MD,* JUAN SEOANE, MD,? AND CRISTOBAL ARJONA, MD§ of the eyelashes and with scattered telangiectases (Fig 1). The mucosa of the upper lip was redundant, giving the ap-
pearanceof a doublelip (Fig 2). Therewasdiscreteswelling of the neck, suggesting thyroid involvement. The ear lobes were slightly enlarged. Examination of the rest of the skin and of the other systems showed no abnormality. Blood
Report of Cases Case 1 A 19-year-oldwhite manpresentedwith a family history of his mother and grandmother having anosmia congenita. A sister was unaffected. The patient had suffered idiopatic megacolon (Hirschprung disease) and was operated on just after birth and reoperated when he was 3 years old. He also had parotitis in childhood. Since he was 9 years old, he had noted a progressive folding of the upper lid skin, being operated on by a plastic surgeonwhen he was 15 yearsold,
with relapse2 monthsafter the operation.In the last year hehad noted progressive folding of the upper labial mucosa, appearing without previous swelling or inflammation. Clinical examination showed a wrinked and lax skin in the upper eyelids, with redundant folds that reached the level
* Captain, Chief, Department of Dermatology, Militar Hospital, Las Palmas, Spain. t Major, Specialist in Oral Medicine, Dental Department, Militar Hospital, La Cornfia, Spain. $ Chief, Department of Dermatology, Militar Hospital, La Corufia, Spain. 0 Captain, Specialist, Department of Dermatology, Militar Hospital “G6mez Ulla,” Madrid, Spain. Address correspondence and reprint requests to Dr G6mez-Duaso: Servicio de Dermatologia, Hospital Militar, Las Palmas, Spain. 0 1997 American
Association
0278-2391/97/5501-0015$3.00/O
of Oral and Maxillofacial
Surgeons
FIGURE 1. Folding of the upper lid in patient 1
GOMEZ-DUASO
ET
89
AL
notch causedby the labial frenulum (Fig 4). He also had bilateral blepharochalasis, the lid fold falling like a curtain and covering the outer half of the free lid margin (Fig 5). Routine laboratory studiesgave negative or normal results,includingthyroid hormonelevels andantithyroid antibodies.Thyroid gammagraphyshowedan increasedsize in the transversediameterof the gland. Cheiloplasty and blepharoplastywere done, with good esthetic and functional results.The histologic study of the upper lip tissue was reported as compatible with normal mucosa. Discussion
FIGURE
2.
View
of double
lip in
patient 1.
and urine analysis, including thyroid hormone levels, were normal. Thyroid gammagraphy showed the presence of a pyramidal lobe, without other pathologic alterations. Surgical correction of the palpebral alterations was done (blepharoplasty). A histologic study of the tissue was not done. The labial fold was removed, and histologic study showed minor salivary gland hyperplasia (Fig 3). Case 2
A 56-year-old white man presentedwith a family history of his mother’sfather having a double lip and his mother having a double lip and goiter. The patient statedthat he had a double lip from birth. There was no other history of interest. Clinical examinationshowedthe presenceof a redundantfold in the mucosaof the upperlip and a midline
FIGURE 3. Photomicrograph showing minor salivary glands hyperplasia in the upper lip of patient 1 (hematoxylin-eosin, original magnification X70).
Ascher syndrome is a very uncommon entity characterized by blepharochalasis and double lip. In approximately 10% of cases,a nontoxic goiter is present. The clinical aspects of the syndrome were described by Ascher in 1920.’ The cause of the syndrome is unknown, although a familial incidence has been reported. It has been described in association with Saethre-Chotzen syndrome and with multiple system involvement.’ Blepharochalasis can be described as laxity of the skin of the upper eyelid, causing the tissue between the eyebrows and lid edge to hang loosely over the lid margin3s4In some cases,this can cause ulceration of the eye by deviation of the eyelashes or it can result in hyperflexion of the head when looking. When the lower lid is affected, it can cause ectropion. Some investigators believe that dermal atrophy in the upper lids causes the folding (a similar process, called dermatochalasis,occurs in elderly people).5Oth-
ASCHER
SYNDROME
FIGURE 4. Folding of the cosa of the upper lip 1 in pa tient 2.
ers believe that there is a decrease of adherence in the elevator fascia, which can be associated with weakness of the orbital septum and protrusion of the orbital fat.‘jx7 A certain degree of blepharochalasis, relationed to skin atrophy and relaxation of the supratarsal folds is common in elderly people.’ It is, however, an uncommon finding in young people, being related to recurrent episodes of eyelid edema, elastic tissue diseases such as cutis laxa, or being idiopathic in origin.’ The histologic studies of blepharochalasis show very scarce or absent elastic tissue. Only 10% of the cases of blepharochalasis in young people are associated with double lip. This condition can be described as an enlargement of the lip, commonly the upper lip, causing a transverse sulcus and giving the appearance of a double lip. The reported histologic findings are prominent minor salivary glands
FIGURE
5.
Folding
of the upper
lid in patient
2.
and a mixed inflammatory cell infiltration. In some cases, a differential diagnosis with cheilitis granulomatosa must be done. The third sign of the syndrome, nontoxic goiter, is an unconstant finding, or it can appear several years after the eyelid involvement. Surgical treatment of the blepharochalasis and the double lip are indicated in cases in which the eye globe would be affected by eyelashes and for esthetic purposes.‘0311 Only approximately 50 cases of Ascher syndrome have been described since the first report in 1920. It seems probable that a number of cases are undiagnosed. We have not found any report of Ascher syndrome associated with Hirschprung disease, or with a family history of anosmia congenita, as in patient 1. References 1. Ascher K: Blepharochalasis mit Struma und Doppellippe. Klin Monastbl Aurrenheilkd 65:86. 1920 2. Ghose S, KalraBR, Dayal Y: Blepharochalasis with multiple system involvement. Br J Ophthalmol 68:529, 1984 3. Larotcha-Torres M, Sanchez-Palencia R: Blefarochalasis. Actas Dermosif 4:173, 1963 4. Papanayotou P, Hatziotis .I: Ascher’s syndrome: Report of a case. Oral Surg 35:467, 1973 5. Dufier JL: Affectios des paupieres, des cils et des sourcils. Encycl M&d Chir Paris Ophtalmologie 21100 C 10:7, 1979 6. Brazin S, Stern L, Johnson W: Unilateral blepharochalasis. Arch Dermatol 115:479, 1979 7. Sanchez M, Lee M, Moy J, et al: Ascher syndrome: A mimicker of adquired angioedema. J Am Acad Dermatol 29:650, 1993 8. Rifaat R, Kivela SL: Occurrence of eye disorders and need for treatment in the elderly in nursing homes. Acta Ophthalmol (Copenh) 67:657, 1989 9. Barker S, Dicken C: Elastolysis of the earlobes. J Am Acad Dermatol 14: 145, 1986 (letter) 10. Bergin D, McCord C, Berger T, et al: Blepharochalasis. Br J Ophthalmol 72:863, 1988 11. Navas J, Rodriguez-Pichardo A, Camacho F: Ascher syndrome: A case study. Pediatr Dermatol 8:122-123, 1991
88 15. Cahan WG, Woodward HQ, Higgenbotham NL, et al: Sarcoma arising in irradiated bone: Report of 11 cases. Cancer 1:3, 1948 16. Huvos AG, Woodard HQ, Cahan WG, et al: Postradiation osteogenic sarcoma of bone and soft tissue: A clinicopathologic study of 66 patients. Cancer 55:1244, 1985 17. Blitzer A, Lawson W, Zak FG, Biller HF, Som ML: Clinical-pathological determinations in prognosis of fibrous his-
J Oral Maxillofac 55:88-90, 1997
tiocytomas of head and neck. Laryngoscope 91:2053, 1981 18. Weiner M, Sedlis M, Johnston AD, et al: Adjuvant chemother;1;;;f malignant fibrous histiocytoma of bone. Cancer 51:25, 19. Barnes L: Tumors and tumorlike lesions of the soft tissue, in Barnes L (ed): Surgical Pathology of the Head and Neck. New York, NY, Dekker, 1985, pp 725-880
Surg
Ascher Syndrome: Report
of Two Cases
ANSELMO J. GOMEZ-DUASO, JESUS VAZQUEZ-GARCIA, MD,* Ascher syndrome, first described in 1920,’ involves recurrent episodes of lid and lip swelling resulting in blepharochalasisand double lip. In approximately 10% of the cases,a eutyroid goiter is present. Two casesof Ascher syndrome, with lid and lip lesions are presented. One of the caseshad a eutyroid goiter.
MD,* JUAN SEOANE, MD,? AND CRISTOBAL ARJONA, MD§ of the eyelashes and with scattered telangiectases (Fig 1). The mucosa of the upper lip was redundant, giving the ap-
pearanceof a doublelip (Fig 2). Therewasdiscreteswelling of the neck, suggesting thyroid involvement. The ear lobes were slightly enlarged. Examination of the rest of the skin and of the other systems showed no abnormality. Blood
Report of Cases Case 1 A 19-year-oldwhite manpresentedwith a family history of his mother and grandmother having anosmia congenita. A sister was unaffected. The patient had suffered idiopatic megacolon (Hirschprung disease) and was operated on just after birth and reoperated when he was 3 years old. He also had parotitis in childhood. Since he was 9 years old, he had noted a progressive folding of the upper lid skin, being operated on by a plastic surgeonwhen he was 15 yearsold,
with relapse2 monthsafter the operation.In the last year hehad noted progressive folding of the upper labial mucosa, appearing without previous swelling or inflammation. Clinical examination showed a wrinked and lax skin in the upper eyelids, with redundant folds that reached the level
* Captain, Chief, Department of Dermatology, Militar Hospital, Las Palmas, Spain. t Major, Specialist in Oral Medicine, Dental Department, Militar Hospital, La Cornfia, Spain. $ Chief, Department of Dermatology, Militar Hospital, La Corufia, Spain. 0 Captain, Specialist, Department of Dermatology, Militar Hospital “G6mez Ulla,” Madrid, Spain. Address correspondence and reprint requests to Dr G6mez-Duaso: Servicio de Dermatologia, Hospital Militar, Las Palmas, Spain. 0 1997 American
Association
0278-2391/97/5501-0015$3.00/O
of Oral and Maxillofacial
Surgeons
FIGURE 1. Folding of the upper lid in patient 1
GOMEZ-DUASO
ET
89
AL
notch causedby the labial frenulum (Fig 4). He also had bilateral blepharochalasis, the lid fold falling like a curtain and covering the outer half of the free lid margin (Fig 5). Routine laboratory studiesgave negative or normal results,includingthyroid hormonelevels andantithyroid antibodies.Thyroid gammagraphyshowedan increasedsize in the transversediameterof the gland. Cheiloplasty and blepharoplastywere done, with good esthetic and functional results.The histologic study of the upper lip tissue was reported as compatible with normal mucosa. Discussion
FIGURE
2.
View
of double
lip in
patient 1.
and urine analysis, including thyroid hormone levels, were normal. Thyroid gammagraphy showed the presence of a pyramidal lobe, without other pathologic alterations. Surgical correction of the palpebral alterations was done (blepharoplasty). A histologic study of the tissue was not done. The labial fold was removed, and histologic study showed minor salivary gland hyperplasia (Fig 3). Case 2
A 56-year-old white man presentedwith a family history of his mother’sfather having a double lip and his mother having a double lip and goiter. The patient statedthat he had a double lip from birth. There was no other history of interest. Clinical examinationshowedthe presenceof a redundantfold in the mucosaof the upperlip and a midline
FIGURE 3. Photomicrograph showing minor salivary glands hyperplasia in the upper lip of patient 1 (hematoxylin-eosin, original magnification X70).
Ascher syndrome is a very uncommon entity characterized by blepharochalasis and double lip. In approximately 10% of cases,a nontoxic goiter is present. The clinical aspects of the syndrome were described by Ascher in 1920.’ The cause of the syndrome is unknown, although a familial incidence has been reported. It has been described in association with Saethre-Chotzen syndrome and with multiple system involvement.’ Blepharochalasis can be described as laxity of the skin of the upper eyelid, causing the tissue between the eyebrows and lid edge to hang loosely over the lid margin3s4In some cases,this can cause ulceration of the eye by deviation of the eyelashes or it can result in hyperflexion of the head when looking. When the lower lid is affected, it can cause ectropion. Some investigators believe that dermal atrophy in the upper lids causes the folding (a similar process, called dermatochalasis,occurs in elderly people).5Oth-
ASCHER
SYNDROME
FIGURE 4. Folding of the cosa of the upper lip 1 in pa tient 2.
ers believe that there is a decrease of adherence in the elevator fascia, which can be associated with weakness of the orbital septum and protrusion of the orbital fat.‘jx7 A certain degree of blepharochalasis, relationed to skin atrophy and relaxation of the supratarsal folds is common in elderly people.’ It is, however, an uncommon finding in young people, being related to recurrent episodes of eyelid edema, elastic tissue diseases such as cutis laxa, or being idiopathic in origin.’ The histologic studies of blepharochalasis show very scarce or absent elastic tissue. Only 10% of the cases of blepharochalasis in young people are associated with double lip. This condition can be described as an enlargement of the lip, commonly the upper lip, causing a transverse sulcus and giving the appearance of a double lip. The reported histologic findings are prominent minor salivary glands
FIGURE
5.
Folding
of the upper
lid in patient
2.
and a mixed inflammatory cell infiltration. In some cases, a differential diagnosis with cheilitis granulomatosa must be done. The third sign of the syndrome, nontoxic goiter, is an unconstant finding, or it can appear several years after the eyelid involvement. Surgical treatment of the blepharochalasis and the double lip are indicated in cases in which the eye globe would be affected by eyelashes and for esthetic purposes.‘0311 Only approximately 50 cases of Ascher syndrome have been described since the first report in 1920. It seems probable that a number of cases are undiagnosed. We have not found any report of Ascher syndrome associated with Hirschprung disease, or with a family history of anosmia congenita, as in patient 1. References 1. Ascher K: Blepharochalasis mit Struma und Doppellippe. Klin Monastbl Aurrenheilkd 65:86. 1920 2. Ghose S, KalraBR, Dayal Y: Blepharochalasis with multiple system involvement. Br J Ophthalmol 68:529, 1984 3. Larotcha-Torres M, Sanchez-Palencia R: Blefarochalasis. Actas Dermosif 4:173, 1963 4. Papanayotou P, Hatziotis .I: Ascher’s syndrome: Report of a case. Oral Surg 35:467, 1973 5. Dufier JL: Affectios des paupieres, des cils et des sourcils. Encycl M&d Chir Paris Ophtalmologie 21100 C 10:7, 1979 6. Brazin S, Stern L, Johnson W: Unilateral blepharochalasis. Arch Dermatol 115:479, 1979 7. Sanchez M, Lee M, Moy J, et al: Ascher syndrome: A mimicker of adquired angioedema. J Am Acad Dermatol 29:650, 1993 8. Rifaat R, Kivela SL: Occurrence of eye disorders and need for treatment in the elderly in nursing homes. Acta Ophthalmol (Copenh) 67:657, 1989 9. Barker S, Dicken C: Elastolysis of the earlobes. J Am Acad Dermatol 14: 145, 1986 (letter) 10. Bergin D, McCord C, Berger T, et al: Blepharochalasis. Br J Ophthalmol 72:863, 1988 11. Navas J, Rodriguez-Pichardo A, Camacho F: Ascher syndrome: A case study. Pediatr Dermatol 8:122-123, 1991