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Goiter and ichthyosis
LETTERS
TO T H E E D I T O R
Clinical notes
"Clinical notes" represent clinical and/or laboratory experiences which can be presented in 200 to 400 words, 3 or 4 references, and, if contributory, one illustration or short table. "Clinical notes" are subject to the same critical peer review and editing as papers published in other sections of the JOURNAL,
Goiter and ichthyosis To the Editor: Goiters have been encountered with some frequency in several d e r m a t o l o g i c c o n d i t i o n s , a m o n g t h e m Von Recklinghausen disease, tuberous sclerosis, and Sturge-Weber syndrome. 1 Recently we encountered a 12-year-old boy with ichthyosis and a goiter. CASE REPORT The patient is a 12-year-old boy who has had ichthyosis since the age of 6 weeks. The family history is significant in that two maternal uncles and three maternal great uncles also had ichthyosis. There is no history of goiter in the family. No skin preparations containing iodide have been used to treat the ichthyosis. The patient has never taken iodides or any other known goitrogenic medications systemically. On initial visit to the pediatric clinic at age 12, the patient had no symptoms consistent with hyper- or hypothyroidism. Physical examination at this time revealed a well-developed, well-nourished Caucasian male with obvious dry, scaling, "dirty looking" skin over the abdomen, back, and the extremities, with sparing of the flexor areas of the extremities. Flaking of the scalp was also noted. The thyroid was diffusely enlarged symmetrically, approximately.three times normal size, with a smooth surface. Estimated weight was approximately 40 gin. The gland was firm and nontender. Laboratory studies revealed a T 4 of 6.6 mg/dl (normal, 4.5-11.5 mg/dl) with a resin T 3 uptake of 28.6% (normal, 25-35%). Iodine 131 uptake was 3% at 2 hours and 11.8% at 24 hours (normal 24 hour value, 9-29%). A perchlorate discharge study was then performed with an 131I uptake at 2 hours of 5.6% and the uptake increased to 6.6% 15 minutes after the perchlorate had been given. Thyroid scan showed diffuse uptake in the enlarged gland. Thyroid antibodies (agglutinating antibodies against thyroglobulin) were not present. Immunoglobulin determinations were: IgG, 1,150 mg/dl; IgA, 170 mg/dl; IgM, 80 mg/dl. Histology of skin obtained by biopsy was compatible with ichthyosis vulgaris. The patient was felt to have a simple diffuse goiter, and therapy with 2 grains of thyroid per day was initiated. Within six months the thyroid had returned to normal size. The ichthyosis showed no significant change with thyroid medication.
DISCUSSION Goiter and ichthyosis in pediatric patients have been observed coincidentally, 1, 2 but the association between them has not been stressed. Nine cases of goiters associated with ichthyosis have been reported in the adult literature. 3 The majority of these goiters had no proved etiology. Four goiters were attributed to exaggerated iodide trapping, and three of the four patients were receiving iodide expectorants for asthma. Our patient had a normal radioactive iodine uptake at 2 and 24 hours, respectively. A perchlorate discharge study was negative, indicating that there was no organification defect of trapped iodide. The etiology of thyroid goiter in patients with ichthy0sis who have not received iodide medications is unclear. The association of these two pathologic entities in the same individual may be coincidental. A report of two brothers with ichthyosis in a family with Pendred syndrome, however, might indicate a genetic linkage or a pleiotropic gene effect, as was suggested 2 In no other reported cases has a familial incidence of this association been reported. Daniel R. Fermaglich, M.D. Lieutenant Commander, MC, USN Naval Regional Medical Center Portsmouth, Va. Present mailing address: Children's Hospital Medical Center Division of Endocrinology 300 Longwood Ave. Boston, Mass. 02115
REFERENCES 1.
2. 3.
Hartemann P, Leclere J, and Fournier A: Une forme end o c r i n i e n n e de g e n n - n e u r o - d e r m a t o s e : Association goitre, ichtyose et comitialite, Rev Otoneurophtai 40:187, 1968. Deraemaeker R: Congenital deafness and goiter, Am J H u m a n Genet, 8:253, 1956. Hadden DR, Montgomery DA, and Weaver JA: Iodide goiter and ichthyosis, vol. 1, Current topics in thyroid research, New York, 1965, Academic Press, Publishers, Inc., pp 933-943.
Vol. 8, No. 4,pp. 637-653
TO T H E E D I T O R
Clinical notes
"Clinical notes" represent clinical and/or laboratory experiences which can be presented in 200 to 400 words, 3 or 4 references, and, if contributory, one illustration or short table. "Clinical notes" are subject to the same critical peer review and editing as papers published in other sections of the JOURNAL,
Goiter and ichthyosis To the Editor: Goiters have been encountered with some frequency in several d e r m a t o l o g i c c o n d i t i o n s , a m o n g t h e m Von Recklinghausen disease, tuberous sclerosis, and Sturge-Weber syndrome. 1 Recently we encountered a 12-year-old boy with ichthyosis and a goiter. CASE REPORT The patient is a 12-year-old boy who has had ichthyosis since the age of 6 weeks. The family history is significant in that two maternal uncles and three maternal great uncles also had ichthyosis. There is no history of goiter in the family. No skin preparations containing iodide have been used to treat the ichthyosis. The patient has never taken iodides or any other known goitrogenic medications systemically. On initial visit to the pediatric clinic at age 12, the patient had no symptoms consistent with hyper- or hypothyroidism. Physical examination at this time revealed a well-developed, well-nourished Caucasian male with obvious dry, scaling, "dirty looking" skin over the abdomen, back, and the extremities, with sparing of the flexor areas of the extremities. Flaking of the scalp was also noted. The thyroid was diffusely enlarged symmetrically, approximately.three times normal size, with a smooth surface. Estimated weight was approximately 40 gin. The gland was firm and nontender. Laboratory studies revealed a T 4 of 6.6 mg/dl (normal, 4.5-11.5 mg/dl) with a resin T 3 uptake of 28.6% (normal, 25-35%). Iodine 131 uptake was 3% at 2 hours and 11.8% at 24 hours (normal 24 hour value, 9-29%). A perchlorate discharge study was then performed with an 131I uptake at 2 hours of 5.6% and the uptake increased to 6.6% 15 minutes after the perchlorate had been given. Thyroid scan showed diffuse uptake in the enlarged gland. Thyroid antibodies (agglutinating antibodies against thyroglobulin) were not present. Immunoglobulin determinations were: IgG, 1,150 mg/dl; IgA, 170 mg/dl; IgM, 80 mg/dl. Histology of skin obtained by biopsy was compatible with ichthyosis vulgaris. The patient was felt to have a simple diffuse goiter, and therapy with 2 grains of thyroid per day was initiated. Within six months the thyroid had returned to normal size. The ichthyosis showed no significant change with thyroid medication.
DISCUSSION Goiter and ichthyosis in pediatric patients have been observed coincidentally, 1, 2 but the association between them has not been stressed. Nine cases of goiters associated with ichthyosis have been reported in the adult literature. 3 The majority of these goiters had no proved etiology. Four goiters were attributed to exaggerated iodide trapping, and three of the four patients were receiving iodide expectorants for asthma. Our patient had a normal radioactive iodine uptake at 2 and 24 hours, respectively. A perchlorate discharge study was negative, indicating that there was no organification defect of trapped iodide. The etiology of thyroid goiter in patients with ichthy0sis who have not received iodide medications is unclear. The association of these two pathologic entities in the same individual may be coincidental. A report of two brothers with ichthyosis in a family with Pendred syndrome, however, might indicate a genetic linkage or a pleiotropic gene effect, as was suggested 2 In no other reported cases has a familial incidence of this association been reported. Daniel R. Fermaglich, M.D. Lieutenant Commander, MC, USN Naval Regional Medical Center Portsmouth, Va. Present mailing address: Children's Hospital Medical Center Division of Endocrinology 300 Longwood Ave. Boston, Mass. 02115
REFERENCES 1.
2. 3.
Hartemann P, Leclere J, and Fournier A: Une forme end o c r i n i e n n e de g e n n - n e u r o - d e r m a t o s e : Association goitre, ichtyose et comitialite, Rev Otoneurophtai 40:187, 1968. Deraemaeker R: Congenital deafness and goiter, Am J H u m a n Genet, 8:253, 1956. Hadden DR, Montgomery DA, and Weaver JA: Iodide goiter and ichthyosis, vol. 1, Current topics in thyroid research, New York, 1965, Academic Press, Publishers, Inc., pp 933-943.
Vol. 8, No. 4,pp. 637-653