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Congenital absence of the breasts
Volume 73 Number 5
6. Elefant, E., Jeklerova, J., and Trapl, J.: Henoch's fulminating purpura causing cutaneous necroses in a four months old infant, Ann. paediat. 197: 452, 1961. 7. Gairdner, D.: The Sch6nlein-Henoch syndrome (anaphylactoid purpura), Quart. J, Med. 17: 95, 1948. 8. Sobief-Kopczyfiska, S., Mazur-Cybulska, J.,
Congenital absence of the breasts Hilda M. Tawil, M.D., and Samir S. Najjar, M.D. B E I R U T ~ LlgBANON
of the CONGENITAL ABSENCE breasts is a rare anomaly; probably the oldest report recognizing this a n o m a l y is found in the Song of Solomon (viii:8), " W e have a little sister, a n d she hath no breasts: what shall we do for our sister in the day when she shall be spoken for?" I n the medical literature, only 16 cases of congenital bilateral absence of the breasts have been rep o r t e d ? T h e case described here is that of a 12-year-old girl with congenital absence of the breasts and nipples, several other anom~ alies, a n d chronic renal disease.
Brief clinical and laboratory observations
75 1
and Polakowska, H.: Choroba SchonlelnaHenocha Przebiegajaca pod Postacia Purpura Fulminans Leczenie Heparyna, Pediat. Polska 42: 587, 1967. 9. Dodge, W. R., Travis, L. B., and Daeschner, C. W.: Anaphylactoid purpura, polyarteritis nodosa and purpura fulminans, Pediat. Clin. North America 10: 879, 1963.
gave a history of recurrent attacks of sore throat associated with fever and dysphagia since early childhood. A tonsillectomy was done at the age of 10 years. Four years prior to admission, fever, left upper quadrant pain, dysuria, burning on urination, and generalized edema occurred; her physician reported no hypertension then, and a urinalysis revealed pus ceils with no hematuria. Six months later and 3 months prior to admission, she had attacks of carpopedal spasms necessitating intravenous calcium therapy. The serum calcium level on 2 occasions was reported as 5.2 mg. per cent; the serum phosphorus was not determined on either occasion. She was studied in other hospitals and was reported to have had a urinary tract infection and hydronephrosis. The parents are not related. The mother and father were 26 and 45 years old, respectively, at the
CASE REPORT A 12-year-old Arab girl was referred to the American University Hospital because of absence of nipples and repeated attacks of carpopedaI spasms. The patient was the product of a fullterm pregnancy and was born by a normal vaginal delivery. During the pregnancy, the mother did not receive any medications nor was she exposed to x-ray. At birth, the patient was noticed to have deformities of the ears and the mouth and absence of the nipples. Her mental and physical development were normal. She
From the Department of Pediatrics, School of Medicine, The American University of Beirut.
Fig. 1. Close-up of the face showing abnormalities of the ears and mouth.
752
Brie[ clinical and laboratory observations
Fig. 2. Photograph showing absence of breasts and nipples, ear anomalies, large mouth, and cubitus valgus.
time of birth of the patient. She is the oldest of 6 siblings, 3 girls and 3 boys, all reported to be normal. There were no reports of any heredofamilial diseases or congenital anomalies in any member of the patient's family and relatives. Physical examination revealed a blood pressure of 110/60 mm. Hg, height of 139 cm., weight of 29 kilograms, and head circumference of 53.5 cm. She had deformed, low-set ears with abnormal pinnae and absence of the lobules and tragus with a slit-like opening of the external canals, a large mouth, and macrognathia (Fig. 1). The eye grounds were normal. Physical examination of the chest revealed absent nipples and breast ~tissue with slight prominence of the superficial veins of the anterior chest wall (Fig. 2). The carrying angle at the elbows was exaggerated. The vaginal mucous membrane was pink and the external genitalia appeared to be normal. Minimal pubic hair was present, and axillary hair was absent. The skin was normal in texture. There was no evidence of latent or manifest tetany. Laboratory data were as follows: normal hemoglobin, hematocrit, and white blood cells, and differential. The serum sugar was 92 mg. per cent, urea nitrogen, 28 mg. per cent; creatinine,
7'he Journal o[ Pediatrics November 1968
1.3 mg. per cent; cholesterol, 210 mg. per cent; sodium, 140 mEq. per liter; potassium, 4.6 mEq. per liter; chloride, 100 mEq. per liter; CO2 combining power, 26 raM. per liter; calcium, 9.4 mg. per cent; phosphorus, 5.3 mg. per cent; alkaline phosphatase, 5.2 B.U. The urinalysis revealed a specific gravity of 1.018, acid reaction, protein +2 to +3; reducing substances and ketones were absent, There was 2 to 4 red blood cells and 2 to 4 white blood cells per high-power field, as well as granular casts and epithelial cells. The creatinine clearance was 58.2 c.c. per minute per 1.73 m e. An intravenous pyelogram revealed malrotation of both kidneys. Twentyfour hour urine for 17-ketosteroids and 17hydroxycorticosteroids revealed 2.0 mg. and 1.2 mg., respectively. FSH was positive at 6 M.U. A urine culture showed no growth. Hearing tests revealed a bilaterally equal sensorineurM hearing loss affecting mostly the high frequencies. Speech discrimination was 75 per cent in each ear. Chest and skull x-rays as well as a skeletal series were normal. On the vaginal smear, there were many cells from the superficial layer. These cells had small pyknotic nuclei and large amounts of cytoplasm. Approximately 50 per cent of the cells were PAS positive and the remainder were basophilic. Chromosome studies were done on a peripheral leukocyte culture by the method of Moorhead and associates. 2 Twenty-five metaphase plates were counted; all revealed a chromosome count of 46. No chromosome abnormality could be demonstrated in 12 plates that were analyzed; all had an XX sex complement. The buccal smear was positive (20 per cent of 200 cells examined had a Barr body). Histologic description of renal tissue obtained by needle biopsy was as follows: "The glomeruli show adhesions of the tufts to Bowman's capsule with hyperplasia of the endothelium and hemorrhage into Bowman's capsule. Other glomeruli show subcapsular hyaline masses and others show partial atrophy. Some of the tubules show dilatation of the lumen, hypertrophy of the wall, and protein material in the lumen. Epithelial and hyaline casts are seen in the lumina of the tubules." The diagnosis was that of chronic glomerulonephritis of unknown etiology. DISCUSSION T r i e r : in 1965 extensively reviewed the literature dealing with the absence of breasts a n d nipples. No subsequent reports have been found. He collected 43 cases a n d di-
Volume 73 Number 5
Table I. Congenital anomalies associated with bilateral absence of the nipples and breast tissues 1 No. o[ patients 1
10
Reported anomalies Atrophy of the right pectoral muscle; absence of the ulna and ulnar side of the hand Absence of finger on the right hand; deformity of the right foot Bilateral lobster claw deformity of the hands and feet; cleft palate Sparse axillary and pubic hair; saddle nose; hypertelorlsm; high-arched palate Short status; short small nose; a broad nasal root; protrusion of the external ear; high-arched palate No anomalies
vided them into 3 groups: (1) Seven patients had absence of the breasts with ectodermal defect involving, the skin, sweat glands, hair, and teeth. T h e congenital ectodermal defect was transmitted as a recessive, sex linked gene and thus, only males were affected. (2) T w e n t y had unilateral absence of the breast. This anomaly was frequently associated with absence of the corresponding pectoral muscles. (3) Sixteen had bilateral absence of the breasts; associated congenital anomalies in this group are shown in Table I. O u r patient had complete absence of the
Familial jejunal atresia: Three cases in one family Henry G. Mishalany, M.D., and Faysal B. Najjar, M.D. BEIRUT, LEBANON
From the Department of Surgery, School o[ Medicine, American University o/Beirut.
Brie[ clinical and laboratory observations
753
nipples and breast tissue in the presence of pubertal changes evidenced by the cytology of the vaginal mucosa and the presence of follicle-stimulating hormone in the urine. She had normal skin texture, sweated normally, and her hair and teeth were normal. She had several anomalies that have not been described in the previously reported 16 cases of bilateral absence of breasts; these were low-set ears with abnormal pinnae and a hearing defect, large m o u t h and macrognathia, high-arched palate, cubitus valgus, and malrotated kidneys. In addition, she had histologic and functional evidence of chronic renal disease which m a y or nlay not be related to the anomalies described. T e t a n y described in the history and reported by her physician was probably related to her chronic renal disease. We are Damascus, Dr. Farid Pathology, performing
grateful to Dr. Rashad Anbari, Syria, for referring this patient, and Khoury, Department of Clinical American University Hospital, for the chromosome studies.
REFERENCES 1. Trier, W. C.: Complete breast absence. Case report and review of the literature, Plast. & Reconstruct. Surg. 36: 431, 1965. 2. Moorhead, P. S., Nowell, P. C., Mellman, W. J., Batipps, D. M., and Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood, Exper. Cell Res. 20: 613, 1960.
THREE SIBLINGS with high jejunal atresia were operated on at the American University Hospital, Beirut, Lebanon. To our knowledge this is the first time that a familial incidence of jejunal atresia has been reported.
CASE REPORT T h e 3 affected siblings, 2 boys and one girl, were born in 1959, 1962, and 1967, respectively, and each presented essentially the same clinical picture during the newborn period. The principal clinical manifestations were continuous bilious vomiting, epigastric
6. Elefant, E., Jeklerova, J., and Trapl, J.: Henoch's fulminating purpura causing cutaneous necroses in a four months old infant, Ann. paediat. 197: 452, 1961. 7. Gairdner, D.: The Sch6nlein-Henoch syndrome (anaphylactoid purpura), Quart. J, Med. 17: 95, 1948. 8. Sobief-Kopczyfiska, S., Mazur-Cybulska, J.,
Congenital absence of the breasts Hilda M. Tawil, M.D., and Samir S. Najjar, M.D. B E I R U T ~ LlgBANON
of the CONGENITAL ABSENCE breasts is a rare anomaly; probably the oldest report recognizing this a n o m a l y is found in the Song of Solomon (viii:8), " W e have a little sister, a n d she hath no breasts: what shall we do for our sister in the day when she shall be spoken for?" I n the medical literature, only 16 cases of congenital bilateral absence of the breasts have been rep o r t e d ? T h e case described here is that of a 12-year-old girl with congenital absence of the breasts and nipples, several other anom~ alies, a n d chronic renal disease.
Brief clinical and laboratory observations
75 1
and Polakowska, H.: Choroba SchonlelnaHenocha Przebiegajaca pod Postacia Purpura Fulminans Leczenie Heparyna, Pediat. Polska 42: 587, 1967. 9. Dodge, W. R., Travis, L. B., and Daeschner, C. W.: Anaphylactoid purpura, polyarteritis nodosa and purpura fulminans, Pediat. Clin. North America 10: 879, 1963.
gave a history of recurrent attacks of sore throat associated with fever and dysphagia since early childhood. A tonsillectomy was done at the age of 10 years. Four years prior to admission, fever, left upper quadrant pain, dysuria, burning on urination, and generalized edema occurred; her physician reported no hypertension then, and a urinalysis revealed pus ceils with no hematuria. Six months later and 3 months prior to admission, she had attacks of carpopedal spasms necessitating intravenous calcium therapy. The serum calcium level on 2 occasions was reported as 5.2 mg. per cent; the serum phosphorus was not determined on either occasion. She was studied in other hospitals and was reported to have had a urinary tract infection and hydronephrosis. The parents are not related. The mother and father were 26 and 45 years old, respectively, at the
CASE REPORT A 12-year-old Arab girl was referred to the American University Hospital because of absence of nipples and repeated attacks of carpopedaI spasms. The patient was the product of a fullterm pregnancy and was born by a normal vaginal delivery. During the pregnancy, the mother did not receive any medications nor was she exposed to x-ray. At birth, the patient was noticed to have deformities of the ears and the mouth and absence of the nipples. Her mental and physical development were normal. She
From the Department of Pediatrics, School of Medicine, The American University of Beirut.
Fig. 1. Close-up of the face showing abnormalities of the ears and mouth.
752
Brie[ clinical and laboratory observations
Fig. 2. Photograph showing absence of breasts and nipples, ear anomalies, large mouth, and cubitus valgus.
time of birth of the patient. She is the oldest of 6 siblings, 3 girls and 3 boys, all reported to be normal. There were no reports of any heredofamilial diseases or congenital anomalies in any member of the patient's family and relatives. Physical examination revealed a blood pressure of 110/60 mm. Hg, height of 139 cm., weight of 29 kilograms, and head circumference of 53.5 cm. She had deformed, low-set ears with abnormal pinnae and absence of the lobules and tragus with a slit-like opening of the external canals, a large mouth, and macrognathia (Fig. 1). The eye grounds were normal. Physical examination of the chest revealed absent nipples and breast ~tissue with slight prominence of the superficial veins of the anterior chest wall (Fig. 2). The carrying angle at the elbows was exaggerated. The vaginal mucous membrane was pink and the external genitalia appeared to be normal. Minimal pubic hair was present, and axillary hair was absent. The skin was normal in texture. There was no evidence of latent or manifest tetany. Laboratory data were as follows: normal hemoglobin, hematocrit, and white blood cells, and differential. The serum sugar was 92 mg. per cent, urea nitrogen, 28 mg. per cent; creatinine,
7'he Journal o[ Pediatrics November 1968
1.3 mg. per cent; cholesterol, 210 mg. per cent; sodium, 140 mEq. per liter; potassium, 4.6 mEq. per liter; chloride, 100 mEq. per liter; CO2 combining power, 26 raM. per liter; calcium, 9.4 mg. per cent; phosphorus, 5.3 mg. per cent; alkaline phosphatase, 5.2 B.U. The urinalysis revealed a specific gravity of 1.018, acid reaction, protein +2 to +3; reducing substances and ketones were absent, There was 2 to 4 red blood cells and 2 to 4 white blood cells per high-power field, as well as granular casts and epithelial cells. The creatinine clearance was 58.2 c.c. per minute per 1.73 m e. An intravenous pyelogram revealed malrotation of both kidneys. Twentyfour hour urine for 17-ketosteroids and 17hydroxycorticosteroids revealed 2.0 mg. and 1.2 mg., respectively. FSH was positive at 6 M.U. A urine culture showed no growth. Hearing tests revealed a bilaterally equal sensorineurM hearing loss affecting mostly the high frequencies. Speech discrimination was 75 per cent in each ear. Chest and skull x-rays as well as a skeletal series were normal. On the vaginal smear, there were many cells from the superficial layer. These cells had small pyknotic nuclei and large amounts of cytoplasm. Approximately 50 per cent of the cells were PAS positive and the remainder were basophilic. Chromosome studies were done on a peripheral leukocyte culture by the method of Moorhead and associates. 2 Twenty-five metaphase plates were counted; all revealed a chromosome count of 46. No chromosome abnormality could be demonstrated in 12 plates that were analyzed; all had an XX sex complement. The buccal smear was positive (20 per cent of 200 cells examined had a Barr body). Histologic description of renal tissue obtained by needle biopsy was as follows: "The glomeruli show adhesions of the tufts to Bowman's capsule with hyperplasia of the endothelium and hemorrhage into Bowman's capsule. Other glomeruli show subcapsular hyaline masses and others show partial atrophy. Some of the tubules show dilatation of the lumen, hypertrophy of the wall, and protein material in the lumen. Epithelial and hyaline casts are seen in the lumina of the tubules." The diagnosis was that of chronic glomerulonephritis of unknown etiology. DISCUSSION T r i e r : in 1965 extensively reviewed the literature dealing with the absence of breasts a n d nipples. No subsequent reports have been found. He collected 43 cases a n d di-
Volume 73 Number 5
Table I. Congenital anomalies associated with bilateral absence of the nipples and breast tissues 1 No. o[ patients 1
10
Reported anomalies Atrophy of the right pectoral muscle; absence of the ulna and ulnar side of the hand Absence of finger on the right hand; deformity of the right foot Bilateral lobster claw deformity of the hands and feet; cleft palate Sparse axillary and pubic hair; saddle nose; hypertelorlsm; high-arched palate Short status; short small nose; a broad nasal root; protrusion of the external ear; high-arched palate No anomalies
vided them into 3 groups: (1) Seven patients had absence of the breasts with ectodermal defect involving, the skin, sweat glands, hair, and teeth. T h e congenital ectodermal defect was transmitted as a recessive, sex linked gene and thus, only males were affected. (2) T w e n t y had unilateral absence of the breast. This anomaly was frequently associated with absence of the corresponding pectoral muscles. (3) Sixteen had bilateral absence of the breasts; associated congenital anomalies in this group are shown in Table I. O u r patient had complete absence of the
Familial jejunal atresia: Three cases in one family Henry G. Mishalany, M.D., and Faysal B. Najjar, M.D. BEIRUT, LEBANON
From the Department of Surgery, School o[ Medicine, American University o/Beirut.
Brie[ clinical and laboratory observations
753
nipples and breast tissue in the presence of pubertal changes evidenced by the cytology of the vaginal mucosa and the presence of follicle-stimulating hormone in the urine. She had normal skin texture, sweated normally, and her hair and teeth were normal. She had several anomalies that have not been described in the previously reported 16 cases of bilateral absence of breasts; these were low-set ears with abnormal pinnae and a hearing defect, large m o u t h and macrognathia, high-arched palate, cubitus valgus, and malrotated kidneys. In addition, she had histologic and functional evidence of chronic renal disease which m a y or nlay not be related to the anomalies described. T e t a n y described in the history and reported by her physician was probably related to her chronic renal disease. We are Damascus, Dr. Farid Pathology, performing
grateful to Dr. Rashad Anbari, Syria, for referring this patient, and Khoury, Department of Clinical American University Hospital, for the chromosome studies.
REFERENCES 1. Trier, W. C.: Complete breast absence. Case report and review of the literature, Plast. & Reconstruct. Surg. 36: 431, 1965. 2. Moorhead, P. S., Nowell, P. C., Mellman, W. J., Batipps, D. M., and Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood, Exper. Cell Res. 20: 613, 1960.
THREE SIBLINGS with high jejunal atresia were operated on at the American University Hospital, Beirut, Lebanon. To our knowledge this is the first time that a familial incidence of jejunal atresia has been reported.
CASE REPORT T h e 3 affected siblings, 2 boys and one girl, were born in 1959, 1962, and 1967, respectively, and each presented essentially the same clinical picture during the newborn period. The principal clinical manifestations were continuous bilious vomiting, epigastric