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Darier's Disease*
134
NOTES, CASES, INSTRUMENTS
3. Parsons, W. B., Jr., et al.: Effect of large doses of nicotinic acid on the plasma and serum lipids in human beings with hypercholesterolemia. Circulation, 14:495, 1956. 4. Parsons, W. B., Jr., and Flinn, J. H. : Reduction in elevated blood cholesterol levels by large doses of nicotinic acid: Preliminary report. J.A.M.A., 165:234, 1957. 5. Altschul, R., and Hoff er, A.: Effect of large doses of nicotinic acid on serum cholesterol and BMR. Circulation, 16:499, 1957. 6. Achor, R. W. P., et al.: Treatment of hypercholesterolemia with nicotinic acid. Circulation, 17:497, 1958. 7. Galbraith, P. A., Perry, W. F., and Beamish, R. E.: Effect of nicotinic acid on serum lipids in normal and atherosclerotic subjects. Lancet, 1:222, 1959. 8. O'Reilly, P. O., Demay, M., and Kurowski, K. : Cholesteremia and nicotinic acid. Arch. Int. Med., 100:797, 1957. 9. Berge, K. G., Achor, R. W. P., et al.: Hypercholesteremia and nicotinic acid. Am. J. Med., 31:24, 1961.
10. Rivin, A. V. : Jaundice occurring during nicotinic acid therapy for hypercholesterolemia. J.A.M.A., 170:2088,1959.
DARIER'S DISEASE* J. C. WEIGHT,
M.D.
Staten Island, New York
Many standard ophthalmologic text books1'2 mention the name Darier in con nection with pseudoxanthoma elasticus. This should not be confused with Darier's dis ease, which is a rare hereditary disturbance affecting the epidermis. In a search of oph thalmic textbooks including Sorsby,3 and Hogan and Zimmerman,4 no mention was made of the ocular manifestations of Dar ier's disease. Duke-Elder 5 reports that the lesion may occur on the upper lid (Rusch, 1921) or on the lid margin (v. Broich, 1908; Lohe, 1921). Since no detailed de scription of these lesions and no other re ported cases with the ophthalmologic find ings could be found, one patient with long standing Darier's disease will be reported.
verrucous. The sites of predilection are the scalp, face, retroauricular areas, neck, axil lae and trunk. In addition, there may be marked keratosis of the palms and soles as well as confluent masses of hyperkeratotic lesions on the extremities, particularly the anterior aspects of the lower legs. The primary lesion is usually described as a firm, follicular papule, although this proc-
Darier's disease is also known as ( 1 ) keratosis follicularis, (2) ichthyosis follicularis, (3) pseudospermosis, (4) acne sebacee cor nee, (5) ichthyosis sebacea cornea and (6) keratosis vegetans. In general Darier's dis ease is a familial condition which is more common in males and usually begins in early childhood. It is manifested by areas of papu lar growths which are frequently crusting or * From the Department of Ophthalmology, United States Public Health Service Hospital.
Fig. 1 (Wright). Section of biopsy, showing hyperkeratosis and parakeratosis.
NOTES, CASES, INSTRUMENTS
135
I 14 .5 iWnijit). The patient had multiple fine IM i.'lie ' ΝΓ-.1ι!»·: growths along all four eyelash lllll -
Fig. 2 (Wright). Corps ronds in the granular layer and grains in the stratum corneum. ess of abnormal keratinization is not basi cally restricted to the foUicular areas. These lesions frequently become confluent, grad ually developing into papillomatous vegetat ing masses which, in turn, may become sec ondarily infected and develop a foul odor. T h e involved areas are usually symmetric and there is usually a gradual progression of the disease. T h e basic pathologic process is one of abnormal keratinization of epi thelial cells, often described as "dyskeratosis." C A S E REPORT
This patient, H. S., No. 2453, a 47-year-old Jewish man, was first told he had Darier's disease in 1938. He had marked foUicular keratotic lesions of the trunk and head, especially of the lumbar re gion, chest and behind the ears. There was pro found keratosis of the palms and soles and large papillomatous vegetating masses over the anterior aspects of both lower legs. The lesions had the foul odor characteristic of Darier's disease. Biopsies of the various regions confirmed the physical findings of Darier's disease and were quite characteristic of the disease (figs. 1 and 2). These sections of skin show hyperkeratosis and parakeratosis. There are "corps ronds" in the granular layer and "grains" in the stratum corneum. There is a papillary suprabasilar cleavage of the
i]ii(lciniis willi the formation of clefts (lacunae) u'iiii Ί in -ular in shape and generally longer th.ui t!ii\ an· liigh. The dermis shows dense collj'.iiiou·· «0'iimtive tissue and a moderately dense IMI 1'1HJ<Ìin- niiUmmatory infiltrate. The eye examination showed vision to be: O.D., 20/40, with glasses 20/20—1, with pinhole 20/20+. The left eye had been enucleated in 1938 follow ing trauma. Manifest refraction O.D. with a +3.5D. sph. C —0.25D. cyl. ax. 150" = 20/20, with a +2.0D. add = J l . The patient had multiple fine keratic hornlike growths along all four eyelash lines (fig. 3). Some, when viewed with the slitlamp biomicroscope, had many fine filamentous processes spreading out in all directions. There were occasional minute ulcéra tions near the cilia surrounded by foamy secretion. Firm foUicular papules were seen on the eyelids. The corneal epithelium appeared roughened but did not take a fluorescein stain. Bowman's mem brane, the stroma, Descemet's membrane and the endothelium appeared normal. Corneal sensation was practically absent. The anterior chamber was clear. No cells, flare or keratic precipitates were found. The iris ap peared normal and reacted to light and accommoda tion. The lens revealed no essential structural changes and the suture lines were clearly visible. The vitreous appeared normal as did the optic disc, retina and retinal vessels. The extraocular muscle ductions, O.D., revealed a full range of motion. Subsequent follow-up examinations revealed that the fine growths along the eyelash lines come and go·
US.P.HS. Hospital (4).
ACKNOWLEDGMENTS
I wish to thank Mr. K. Donohue for photographic help and Mrs. V. Mitchell, hospital librarian, for assistance.
136
NOTES, CASES, INSTRUMENTS REFERENCES
1. Elwyn, H.: Diseases of the Retina. New York, Blakiston, 1953. 2. Troncoso, M. U.: Internal Diseases of the Eye and Atlas of Ophthalmoscopy. Philadelphia, Davis, 1942. 3. Sorsby, A. : Systemic Ophthalmology. St. Louis, Mosby, 1957. 4. Hogan, M. J., and Zimmerman, L. E.: Ophthalmic Pathology: An Atlas and Textbook. Philadelphia, Saunders, 1962. 5. Duke-Elder, W. S.: Textbook of Ophthalmology: The Ocular Adnexa. St. Louis, Mosby, 1952, v. 5.
PSEUDOTUMOR O F LACRIMAL SAC
histologically proved case of pseudotumor of the lacrimai sac.
J. GORDON COLE,
M.D.
CASE HISTORY
ALVIN BRACKUP,
M.D.
J. B., a 43-year-old woman, was admitted to the New York Eye and Ear Infirmary on September 24, 1961, because of a painless mass in the lower part of the medial canthal area of the right eye. She had first observed the mass 14 months earlier but had not noted any trauma or infection previous to its appearance. Physical examination disclosed a firm, nonmovable ovoid mass in the region of the right lacrimai sac, not extending outside the immediate site. While the mass was not adherent to the overlying skin, it felt as though it were attached to the un derlying bone. The globe was not displaced and there was no epiphora. Pressure over the mass did not cause régurgitation of pus or mucus through either punctum. As shown in Figure 1, lipiodol in jected into the right lower punctum passed freely through an apparently normal nasolacrimal duct. Blood and urine examinations were normal except for a sedimentation rate of 37 mm. On September 25, 1961, a firm mass at the site
J. S W I F T HANLEY,
M.D.
AND GEORGE K. HIGGINS,
M.D.
New York Primary tumors of the lacrimai sac are rare. Duke-Elder5 has collected 117 cases from the literature. Of these, 26 were pseudotumors or chronic inflammatory masses, 54 were epithelial tumors, 23 were mesenchymal tumors, 11 were reticuloses and three were malignant melanomas. Jones7 presented six cases of true tumor of the lacrimai sac and considered that the total number had ( 1956) exceeded 100. Review of the more recent literature on the lacrimai apparatus discloses a few pa pers on true tumors of the lacrimai sac, in cluding Bourgas' 1 presentation of polyps of the lacrimai sac, Crawford's 3 report of papilloma of the lacrimai sac and Davis' 4 paper on epidermal carcinoma of the lacrimai sac. No recent reports on pseudotumor of the lacrimai sac have been found, although Brandt 2 believes that true polyps of the lacrimai sac are rare and that many which are so reported should be more properly classed as pseudotumor. Finally, Ingalls'6 review of 26 cases of pseudotumor of the orbit includes none located in the lacrimai sac. It, therefore, seems unlikely that any pathologically verified cases have been re ported since some of the considerably ear lier cases reviewed by Duke-Elder. For this reason, it appeared important to present a
Fig. 1 (Cole, et al.). Lipiodol injected into the right lower punctum showed patency and anatomi cally normal appearance of the right lacrimai drain age apparatus.
NOTES, CASES, INSTRUMENTS
3. Parsons, W. B., Jr., et al.: Effect of large doses of nicotinic acid on the plasma and serum lipids in human beings with hypercholesterolemia. Circulation, 14:495, 1956. 4. Parsons, W. B., Jr., and Flinn, J. H. : Reduction in elevated blood cholesterol levels by large doses of nicotinic acid: Preliminary report. J.A.M.A., 165:234, 1957. 5. Altschul, R., and Hoff er, A.: Effect of large doses of nicotinic acid on serum cholesterol and BMR. Circulation, 16:499, 1957. 6. Achor, R. W. P., et al.: Treatment of hypercholesterolemia with nicotinic acid. Circulation, 17:497, 1958. 7. Galbraith, P. A., Perry, W. F., and Beamish, R. E.: Effect of nicotinic acid on serum lipids in normal and atherosclerotic subjects. Lancet, 1:222, 1959. 8. O'Reilly, P. O., Demay, M., and Kurowski, K. : Cholesteremia and nicotinic acid. Arch. Int. Med., 100:797, 1957. 9. Berge, K. G., Achor, R. W. P., et al.: Hypercholesteremia and nicotinic acid. Am. J. Med., 31:24, 1961.
10. Rivin, A. V. : Jaundice occurring during nicotinic acid therapy for hypercholesterolemia. J.A.M.A., 170:2088,1959.
DARIER'S DISEASE* J. C. WEIGHT,
M.D.
Staten Island, New York
Many standard ophthalmologic text books1'2 mention the name Darier in con nection with pseudoxanthoma elasticus. This should not be confused with Darier's dis ease, which is a rare hereditary disturbance affecting the epidermis. In a search of oph thalmic textbooks including Sorsby,3 and Hogan and Zimmerman,4 no mention was made of the ocular manifestations of Dar ier's disease. Duke-Elder 5 reports that the lesion may occur on the upper lid (Rusch, 1921) or on the lid margin (v. Broich, 1908; Lohe, 1921). Since no detailed de scription of these lesions and no other re ported cases with the ophthalmologic find ings could be found, one patient with long standing Darier's disease will be reported.
verrucous. The sites of predilection are the scalp, face, retroauricular areas, neck, axil lae and trunk. In addition, there may be marked keratosis of the palms and soles as well as confluent masses of hyperkeratotic lesions on the extremities, particularly the anterior aspects of the lower legs. The primary lesion is usually described as a firm, follicular papule, although this proc-
Darier's disease is also known as ( 1 ) keratosis follicularis, (2) ichthyosis follicularis, (3) pseudospermosis, (4) acne sebacee cor nee, (5) ichthyosis sebacea cornea and (6) keratosis vegetans. In general Darier's dis ease is a familial condition which is more common in males and usually begins in early childhood. It is manifested by areas of papu lar growths which are frequently crusting or * From the Department of Ophthalmology, United States Public Health Service Hospital.
Fig. 1 (Wright). Section of biopsy, showing hyperkeratosis and parakeratosis.
NOTES, CASES, INSTRUMENTS
135
I 14 .5 iWnijit). The patient had multiple fine IM i.'lie ' ΝΓ-.1ι!»·: growths along all four eyelash lllll -
Fig. 2 (Wright). Corps ronds in the granular layer and grains in the stratum corneum. ess of abnormal keratinization is not basi cally restricted to the foUicular areas. These lesions frequently become confluent, grad ually developing into papillomatous vegetat ing masses which, in turn, may become sec ondarily infected and develop a foul odor. T h e involved areas are usually symmetric and there is usually a gradual progression of the disease. T h e basic pathologic process is one of abnormal keratinization of epi thelial cells, often described as "dyskeratosis." C A S E REPORT
This patient, H. S., No. 2453, a 47-year-old Jewish man, was first told he had Darier's disease in 1938. He had marked foUicular keratotic lesions of the trunk and head, especially of the lumbar re gion, chest and behind the ears. There was pro found keratosis of the palms and soles and large papillomatous vegetating masses over the anterior aspects of both lower legs. The lesions had the foul odor characteristic of Darier's disease. Biopsies of the various regions confirmed the physical findings of Darier's disease and were quite characteristic of the disease (figs. 1 and 2). These sections of skin show hyperkeratosis and parakeratosis. There are "corps ronds" in the granular layer and "grains" in the stratum corneum. There is a papillary suprabasilar cleavage of the
i]ii(lciniis willi the formation of clefts (lacunae) u'iiii Ί in -ular in shape and generally longer th.ui t!ii\ an· liigh. The dermis shows dense collj'.iiiou·· «0'iimtive tissue and a moderately dense IMI 1'1HJ<Ìin- niiUmmatory infiltrate. The eye examination showed vision to be: O.D., 20/40, with glasses 20/20—1, with pinhole 20/20+. The left eye had been enucleated in 1938 follow ing trauma. Manifest refraction O.D. with a +3.5D. sph. C —0.25D. cyl. ax. 150" = 20/20, with a +2.0D. add = J l . The patient had multiple fine keratic hornlike growths along all four eyelash lines (fig. 3). Some, when viewed with the slitlamp biomicroscope, had many fine filamentous processes spreading out in all directions. There were occasional minute ulcéra tions near the cilia surrounded by foamy secretion. Firm foUicular papules were seen on the eyelids. The corneal epithelium appeared roughened but did not take a fluorescein stain. Bowman's mem brane, the stroma, Descemet's membrane and the endothelium appeared normal. Corneal sensation was practically absent. The anterior chamber was clear. No cells, flare or keratic precipitates were found. The iris ap peared normal and reacted to light and accommoda tion. The lens revealed no essential structural changes and the suture lines were clearly visible. The vitreous appeared normal as did the optic disc, retina and retinal vessels. The extraocular muscle ductions, O.D., revealed a full range of motion. Subsequent follow-up examinations revealed that the fine growths along the eyelash lines come and go·
US.P.HS. Hospital (4).
ACKNOWLEDGMENTS
I wish to thank Mr. K. Donohue for photographic help and Mrs. V. Mitchell, hospital librarian, for assistance.
136
NOTES, CASES, INSTRUMENTS REFERENCES
1. Elwyn, H.: Diseases of the Retina. New York, Blakiston, 1953. 2. Troncoso, M. U.: Internal Diseases of the Eye and Atlas of Ophthalmoscopy. Philadelphia, Davis, 1942. 3. Sorsby, A. : Systemic Ophthalmology. St. Louis, Mosby, 1957. 4. Hogan, M. J., and Zimmerman, L. E.: Ophthalmic Pathology: An Atlas and Textbook. Philadelphia, Saunders, 1962. 5. Duke-Elder, W. S.: Textbook of Ophthalmology: The Ocular Adnexa. St. Louis, Mosby, 1952, v. 5.
PSEUDOTUMOR O F LACRIMAL SAC
histologically proved case of pseudotumor of the lacrimai sac.
J. GORDON COLE,
M.D.
CASE HISTORY
ALVIN BRACKUP,
M.D.
J. B., a 43-year-old woman, was admitted to the New York Eye and Ear Infirmary on September 24, 1961, because of a painless mass in the lower part of the medial canthal area of the right eye. She had first observed the mass 14 months earlier but had not noted any trauma or infection previous to its appearance. Physical examination disclosed a firm, nonmovable ovoid mass in the region of the right lacrimai sac, not extending outside the immediate site. While the mass was not adherent to the overlying skin, it felt as though it were attached to the un derlying bone. The globe was not displaced and there was no epiphora. Pressure over the mass did not cause régurgitation of pus or mucus through either punctum. As shown in Figure 1, lipiodol in jected into the right lower punctum passed freely through an apparently normal nasolacrimal duct. Blood and urine examinations were normal except for a sedimentation rate of 37 mm. On September 25, 1961, a firm mass at the site
J. S W I F T HANLEY,
M.D.
AND GEORGE K. HIGGINS,
M.D.
New York Primary tumors of the lacrimai sac are rare. Duke-Elder5 has collected 117 cases from the literature. Of these, 26 were pseudotumors or chronic inflammatory masses, 54 were epithelial tumors, 23 were mesenchymal tumors, 11 were reticuloses and three were malignant melanomas. Jones7 presented six cases of true tumor of the lacrimai sac and considered that the total number had ( 1956) exceeded 100. Review of the more recent literature on the lacrimai apparatus discloses a few pa pers on true tumors of the lacrimai sac, in cluding Bourgas' 1 presentation of polyps of the lacrimai sac, Crawford's 3 report of papilloma of the lacrimai sac and Davis' 4 paper on epidermal carcinoma of the lacrimai sac. No recent reports on pseudotumor of the lacrimai sac have been found, although Brandt 2 believes that true polyps of the lacrimai sac are rare and that many which are so reported should be more properly classed as pseudotumor. Finally, Ingalls'6 review of 26 cases of pseudotumor of the orbit includes none located in the lacrimai sac. It, therefore, seems unlikely that any pathologically verified cases have been re ported since some of the considerably ear lier cases reviewed by Duke-Elder. For this reason, it appeared important to present a
Fig. 1 (Cole, et al.). Lipiodol injected into the right lower punctum showed patency and anatomi cally normal appearance of the right lacrimai drain age apparatus.