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Trichomegaly, Cataract, and Hereditary Spherocytosis in Two Siblings
TRICHOMEGALY, CATARACT, A N D H E R E D I T A R Y SPHEROCYTOSIS IN T W O SIBLINGS JOSEPH H. GOLDSTEIN, M.D.,
AND ALFRED E. H U T T ,
Brooklyn, New
Trichomegaly is a term first used by Gray 1 to denote abnormally long lashes. It has been reported in an otherwise normal subject2 as well as in association with systemic1'3"5 and ocular anomalies.6'7 In 1926, and in a follow-up in 1931, Reitter2'3 described a patient with excessive growth of facial hair and lashes. Other find ings included carcinoma of the breast and osteoarthritis. Reitter thought the abnormal ities of hair growth were related to adrenal malfunction. Subsequent autopsy findings included "atrophy of the ovarian follices" and areas of atrophy and hyperplasia of the adrenal cortex. In 1928, Marquez4 reported the case of a 10-year-old child with abnor mally long brows and lashes. Normal intelli gence was noted. At age 12, there was no menstruation. Other similarly affected mem bers of the family included an older sister, as well as the mother, father, and cousins. In 1944, Gray5 reported the case of a 64-yearold man with lashes 22 mm in length. An as sociated finding was "probable lymphoma." He noted that the patient's daughter also had trichomegaly. Oliver and McFarlane" re ported a case which, in addition to lashes 40 mm in length, demonstrated dwarfism, men tal retardation, and diffuse retinal pigmen tary degeneration. In 1967, Cant7 reported a child with lashes measuring 40 mm and mul tiple associated abnormalities including a patchy alopecia of the scalp with onset when the child was three years of age, under weight, pendular nystagmus, ring heterochromia of the iris, and extensive chorioretinal degeneration which was most marked From the Department of Surgery, Division of Ophthalmology, State University of New York, Downstate Medical Center, Brooklyn, New York. Department of Surgery, Division of Ophthalmol ogy, State University of New York Downstate Medical Center, 450 Clarkson Avenue, Brooklyn, New York 11203.
M.D.
York
at the posterior pole. The child showed normal intelligence. The family history was nega tive. These findings were grouped under the diagnosis of ectodermal dysplasia. This report presents the case of two sib lings having trichomegaly, cataracts, and he reditary spherocytosis. CASE REPORTS Case 1—This 18-year-old white girl was diag nosed as having Cooley's anemia when she was 22 months old. She was given multiple transfusions over the course of four years. At the age of six years, she was hospitalized for pneumonia, and at this time the diagnosis of hereditary spherocyto sis was made. She was cured by splenectomy at the age of seven years. At six and one-half years of age, cataracts were diagnosed and she subsequently had cataract surgery of both eyes. Bilateral discissions were performed at the age of 10 years, and subsequently her vision was good. The patient is otherwise in good health with a history of normal menstruation and normal growth and mentality. Rel evant findings on examination were as follows : cor rected visual acuity, R E : 20/25, L E : 2 0 / 2 0 ; bilat eral corneal leukoma secondary to Ziegler puncture; remnants of a secondary membrane; and normal fundi. Her lashes were long from birth; they were measured without removing them. The longest measured 20 mm (Fig. 1). The brows had been plucked for cosmetic purposes. Neither nystag mus nor iris abnormalities were noted. Case 2—This 14.5-year-old boy, the brother of the 18-year-old girl had described, was seen because his vision had recently decreased bilaterally. Birth, development, and intelligence were normal. The pa tient was hospitalized in 1968 for acute glomerulonephritis and anemia. A diagnosis of hereditary spherocytosis was made and one month later a sple nectomy and as well a renal biopsy were performed. No systemic symptoms have since been noted. Rele vant ophthalmic findings on examination were as follows: corrected visual acuity, RE:20/30, L E : 20/70, absence of nystagmus, bilateral persistent pu pillary membranes, and bilateral anterior and poste rior cortical lenticular spoke-like opacities. The right fundus was completely normal. The left fundus could not be completely visualized because of the lenticular opacities. The eye lashes were curled and measured 22 mm (Fig. 2 ) . They were measured without removing them. Microscopic examination of hair shafts and bulbs taken from the lash, brow, and scalp revealed normal telogen hair. After two years, visual acuity remained unchanged.
333
334
AMERICAN JOURNAL OF OPHTHALMOLOGY
MARCH, 1972
In addition to trichomegaly, the two sib lings presented here have cataracts and he reditary spherocytosis, findings not previ ously reported with trichomegaly, and, apart from trichomegaly, seemingly totally dissim ilar to those reported by Oliver and McFarlane, 6 and by Cant. 7 There seems to be no common basis on which one can group all the reported cases. Although cataract may be classified as evidence of ectodermal distur bance, the spherocytosis cannot be so classi fied. It may well be that trichomegaly is a random finding which may be associated with no other abnormality or with unrelated eye or systemic disturbances. SUMMARY
Fig. 1 (Goldstein and Hutt). Case 1 showing abnormally long lashes.
Trichomegaly (abnormally long eye lashes), cataracts, and hereditary spherocy tosis occurred in a brother and sister. Previ ous reports have described dwarfism, mental retardation, pigmentary degeneration, al opecia, heterochromia, and nystagmus. In some cases, trichomegaly has been noted in
DISCUSSION
Several cases of trichomegaly previously reported have been reviewed (Table 1 ) . One case, an adult with carcinoma of the breast, had excessive facial hair as well as increased lash length. 2 · 3 T w o cases were children, 1 seven and 10 years of age, 4 who were other wise normal except for a questionable his tory of amenorrhea at age 12 in one. One adult was reported who had a history of lymphoma, but was otherwise normal. 5 In this case and the case of one of the two normal children, 4 there was a family history of long lashes. Finally, two cases are reported 6 · 7 with early (at birth and at the age of two years) demonstration of associated abnor malities including dwarfism and diffuse reti nal degneration, but in neither was a family history noted. These last two cases differ in that one patient had ring heterochromia, nor mal intelligence and alopecia, and the other was mentally defective.
Fig. 2 (Goldstein and Hutt). Case 2 showing abnormally long lashes.
VOL. 73, NO. 3
335
TRICHOMEGALY TABLE 1 REVIEW OF FINDINGS IN PATIENTS WITH TRICHOMEGALY
Author
Year
Reitter»· 4
Lash Length Affected Family (in Members mm)
Systemic Findings
Carcinoma of the breast Arthritis Possible delayed men struation, normal intelligence None Probable lymphoma Dwarfism, mental re tardation, mild hyperthyroidism
20
No comment
Marquez 6
1926 1931 1928
30
Father, mother, sister, cousin
Bab* Gray 1 Oliverand McFarlane 6
1931 1944 1965
25 22 40
No comment Daughter Negative
Cant 7
1967
40
Negative
Premature and under weight, alopecia areata, Normal intelligence
Present report: Case 1
1970
20
Brother
1970
22
Sister
Hereditary spherocytosis, normal intelligence Hereditary spherocytosis, normal intelligence
Case 2
patients with facial hair, ovarian atrophy, menstrual abnormality, and lymphoma. Al though it has been suggested in one report that certain findings may be grouped un der the diagnosis of ectodermal dysplasia, the presence of hereditary spherocytosis in the two cases presented would make this diagno sis improbable. Trichomegaly may be found alone or associated with multiple eye and systemic anomalies which, thus far, cannot satisfactorily be unified under one diagnosis.
ACKNOWLEDGMENT
We thank Dr. Yelva Lynfield for her help in evaluating the microscopic structure of the hair.
Associated Eye Findings
None None None None Congenital pigmentary degeneration of the retina, elongated brows Horizontal pendular nystagmus, ring heterochromia of the iris, chorioretinal degen eration most marked a t the posterior pole, elongated brows, early bilateral transi ent nasolacrymal duct obstruction Cataracts Cataracts
REFERENCES
1. Gray, H. : Trichomegaly, or movie lashes. Stanford Med. Bull. 2 :157, 1944. 2. Bab, W. : Abnormes Längenwachstum der Wimpen. Klin. Mbl. Augenheilk. 87 :804, 1931. 3. Reitter : Abnormes Längenwachstum der Wimpern bei Unberfunktion der Nebennieren. Klin. Mbl. Augenheilk. 76:726, 1926. 4. -: Nachtraglicher bericht zum Fall ab normen Längenwachstums der Wimpern. Klin. Mbl. Augenheilk. 86:110, 1931. 5. Marquez, M. : Las hipertricocis localizadas especialmente la hipertricorgridia. Siglo Med. 82:279, 1928. 6. Oliver, G. L., and McFarlane, D. C. : Congeni tal trichomegaly with associated pigmentary degener ation of the retina, dwarfism, and mental retarda tion. Arch. Ophth. 74:169, 1965. 7. Cant, J. S.: Ectodermal dysplasia. J. Ped. Ophth. 4:13, 1967.
AND ALFRED E. H U T T ,
Brooklyn, New
Trichomegaly is a term first used by Gray 1 to denote abnormally long lashes. It has been reported in an otherwise normal subject2 as well as in association with systemic1'3"5 and ocular anomalies.6'7 In 1926, and in a follow-up in 1931, Reitter2'3 described a patient with excessive growth of facial hair and lashes. Other find ings included carcinoma of the breast and osteoarthritis. Reitter thought the abnormal ities of hair growth were related to adrenal malfunction. Subsequent autopsy findings included "atrophy of the ovarian follices" and areas of atrophy and hyperplasia of the adrenal cortex. In 1928, Marquez4 reported the case of a 10-year-old child with abnor mally long brows and lashes. Normal intelli gence was noted. At age 12, there was no menstruation. Other similarly affected mem bers of the family included an older sister, as well as the mother, father, and cousins. In 1944, Gray5 reported the case of a 64-yearold man with lashes 22 mm in length. An as sociated finding was "probable lymphoma." He noted that the patient's daughter also had trichomegaly. Oliver and McFarlane" re ported a case which, in addition to lashes 40 mm in length, demonstrated dwarfism, men tal retardation, and diffuse retinal pigmen tary degeneration. In 1967, Cant7 reported a child with lashes measuring 40 mm and mul tiple associated abnormalities including a patchy alopecia of the scalp with onset when the child was three years of age, under weight, pendular nystagmus, ring heterochromia of the iris, and extensive chorioretinal degeneration which was most marked From the Department of Surgery, Division of Ophthalmology, State University of New York, Downstate Medical Center, Brooklyn, New York. Department of Surgery, Division of Ophthalmol ogy, State University of New York Downstate Medical Center, 450 Clarkson Avenue, Brooklyn, New York 11203.
M.D.
York
at the posterior pole. The child showed normal intelligence. The family history was nega tive. These findings were grouped under the diagnosis of ectodermal dysplasia. This report presents the case of two sib lings having trichomegaly, cataracts, and he reditary spherocytosis. CASE REPORTS Case 1—This 18-year-old white girl was diag nosed as having Cooley's anemia when she was 22 months old. She was given multiple transfusions over the course of four years. At the age of six years, she was hospitalized for pneumonia, and at this time the diagnosis of hereditary spherocyto sis was made. She was cured by splenectomy at the age of seven years. At six and one-half years of age, cataracts were diagnosed and she subsequently had cataract surgery of both eyes. Bilateral discissions were performed at the age of 10 years, and subsequently her vision was good. The patient is otherwise in good health with a history of normal menstruation and normal growth and mentality. Rel evant findings on examination were as follows : cor rected visual acuity, R E : 20/25, L E : 2 0 / 2 0 ; bilat eral corneal leukoma secondary to Ziegler puncture; remnants of a secondary membrane; and normal fundi. Her lashes were long from birth; they were measured without removing them. The longest measured 20 mm (Fig. 1). The brows had been plucked for cosmetic purposes. Neither nystag mus nor iris abnormalities were noted. Case 2—This 14.5-year-old boy, the brother of the 18-year-old girl had described, was seen because his vision had recently decreased bilaterally. Birth, development, and intelligence were normal. The pa tient was hospitalized in 1968 for acute glomerulonephritis and anemia. A diagnosis of hereditary spherocytosis was made and one month later a sple nectomy and as well a renal biopsy were performed. No systemic symptoms have since been noted. Rele vant ophthalmic findings on examination were as follows: corrected visual acuity, RE:20/30, L E : 20/70, absence of nystagmus, bilateral persistent pu pillary membranes, and bilateral anterior and poste rior cortical lenticular spoke-like opacities. The right fundus was completely normal. The left fundus could not be completely visualized because of the lenticular opacities. The eye lashes were curled and measured 22 mm (Fig. 2 ) . They were measured without removing them. Microscopic examination of hair shafts and bulbs taken from the lash, brow, and scalp revealed normal telogen hair. After two years, visual acuity remained unchanged.
333
334
AMERICAN JOURNAL OF OPHTHALMOLOGY
MARCH, 1972
In addition to trichomegaly, the two sib lings presented here have cataracts and he reditary spherocytosis, findings not previ ously reported with trichomegaly, and, apart from trichomegaly, seemingly totally dissim ilar to those reported by Oliver and McFarlane, 6 and by Cant. 7 There seems to be no common basis on which one can group all the reported cases. Although cataract may be classified as evidence of ectodermal distur bance, the spherocytosis cannot be so classi fied. It may well be that trichomegaly is a random finding which may be associated with no other abnormality or with unrelated eye or systemic disturbances. SUMMARY
Fig. 1 (Goldstein and Hutt). Case 1 showing abnormally long lashes.
Trichomegaly (abnormally long eye lashes), cataracts, and hereditary spherocy tosis occurred in a brother and sister. Previ ous reports have described dwarfism, mental retardation, pigmentary degeneration, al opecia, heterochromia, and nystagmus. In some cases, trichomegaly has been noted in
DISCUSSION
Several cases of trichomegaly previously reported have been reviewed (Table 1 ) . One case, an adult with carcinoma of the breast, had excessive facial hair as well as increased lash length. 2 · 3 T w o cases were children, 1 seven and 10 years of age, 4 who were other wise normal except for a questionable his tory of amenorrhea at age 12 in one. One adult was reported who had a history of lymphoma, but was otherwise normal. 5 In this case and the case of one of the two normal children, 4 there was a family history of long lashes. Finally, two cases are reported 6 · 7 with early (at birth and at the age of two years) demonstration of associated abnor malities including dwarfism and diffuse reti nal degneration, but in neither was a family history noted. These last two cases differ in that one patient had ring heterochromia, nor mal intelligence and alopecia, and the other was mentally defective.
Fig. 2 (Goldstein and Hutt). Case 2 showing abnormally long lashes.
VOL. 73, NO. 3
335
TRICHOMEGALY TABLE 1 REVIEW OF FINDINGS IN PATIENTS WITH TRICHOMEGALY
Author
Year
Reitter»· 4
Lash Length Affected Family (in Members mm)
Systemic Findings
Carcinoma of the breast Arthritis Possible delayed men struation, normal intelligence None Probable lymphoma Dwarfism, mental re tardation, mild hyperthyroidism
20
No comment
Marquez 6
1926 1931 1928
30
Father, mother, sister, cousin
Bab* Gray 1 Oliverand McFarlane 6
1931 1944 1965
25 22 40
No comment Daughter Negative
Cant 7
1967
40
Negative
Premature and under weight, alopecia areata, Normal intelligence
Present report: Case 1
1970
20
Brother
1970
22
Sister
Hereditary spherocytosis, normal intelligence Hereditary spherocytosis, normal intelligence
Case 2
patients with facial hair, ovarian atrophy, menstrual abnormality, and lymphoma. Al though it has been suggested in one report that certain findings may be grouped un der the diagnosis of ectodermal dysplasia, the presence of hereditary spherocytosis in the two cases presented would make this diagno sis improbable. Trichomegaly may be found alone or associated with multiple eye and systemic anomalies which, thus far, cannot satisfactorily be unified under one diagnosis.
ACKNOWLEDGMENT
We thank Dr. Yelva Lynfield for her help in evaluating the microscopic structure of the hair.
Associated Eye Findings
None None None None Congenital pigmentary degeneration of the retina, elongated brows Horizontal pendular nystagmus, ring heterochromia of the iris, chorioretinal degen eration most marked a t the posterior pole, elongated brows, early bilateral transi ent nasolacrymal duct obstruction Cataracts Cataracts
REFERENCES
1. Gray, H. : Trichomegaly, or movie lashes. Stanford Med. Bull. 2 :157, 1944. 2. Bab, W. : Abnormes Längenwachstum der Wimpen. Klin. Mbl. Augenheilk. 87 :804, 1931. 3. Reitter : Abnormes Längenwachstum der Wimpern bei Unberfunktion der Nebennieren. Klin. Mbl. Augenheilk. 76:726, 1926. 4. -: Nachtraglicher bericht zum Fall ab normen Längenwachstums der Wimpern. Klin. Mbl. Augenheilk. 86:110, 1931. 5. Marquez, M. : Las hipertricocis localizadas especialmente la hipertricorgridia. Siglo Med. 82:279, 1928. 6. Oliver, G. L., and McFarlane, D. C. : Congeni tal trichomegaly with associated pigmentary degener ation of the retina, dwarfism, and mental retarda tion. Arch. Ophth. 74:169, 1965. 7. Cant, J. S.: Ectodermal dysplasia. J. Ped. Ophth. 4:13, 1967.