Indian J Pediat 50 : 89--91, 1983

Tendinous xanthomatos is - -a ease report

Meharban Singh M. D., A. S. Jailali, M. S., L. S. Arya, M. D., and R. G. Goel, M . D .

A lO-year old girl with multiple tendinous and subcutaneous xantho- matosis affecting both Achilles tendons and other sites in association with hypercholesterolemia is presented with brief review of literature.

Key word : Tendinous xanthomatosis.

Tendon xanthomas are rare and were first described as early as 1879 by Fox. ~ Subsequently they have been documented in association with type I1, type III and type IV hyperlipoproteinemias. 2-4 There has been only a single report of this entity in Indian literature, s This com- munication describes a young girl with multiple xanthomatosis affecting both Achilles tendons and other sites in association with hypercholesterolemia. This appears to be the first report of this metabolic disorder from Afghanistan.

Case Report

S.G. 10-year old girl was admitted to the Institute of Child Health, Kabul with complaints of swellings on posterior aspects of both ankles and multiple sub- cutaneous nodules for the past one year. About one year ago, the child developed painless swelling in the region of Achilles tendons. There was no pain or difficulty in walking. Simultaneously she develop- ed three additional subcutaneous nodules one each over the extensor aspect of the right elbow, left thigh and over coccyx

The Institute of Child Health, Kabul, Afghanis- tan. Reprint requests : Dr. Meharban Singh, Director.

region. All the noduks were painless and asymptomatic. She did not have any constitutional symptoms in the form of anorexia, fever or weight loss. There was no family history of similar swellings or any congenital malformations. There was history of consanguinity among parents.

General physical examination revealed a healthy looking child without any anemia, cyanosis, jaundice or peripheral lymphadenoatphy. Her pulse rate was 82 per minute, respiratory rate ~0 per minute, temperature 37.2~ and blood pressure 130/90 mm Hg. The child had five yellowish subcutaneous nodules at different sites o f the body. There were two soft swellings--one over each of the posterior aspects of both ankles. The swellings were about 5 cm • 5 cm size, soft in consistency and nontender . There were no signs o f inflammation or fluctua- tions. The swellings were adherent to the underlying Achilles tendons. Both feet were slightly plantar flexed. The other three subcutaneous nodules over right e lbow, left thigh and coccyx aver- aged in size about l c m • 1 . 5 c m a n d were painless and soft in consistency. These swellings were freely mobile and were not fixed to the underlying strue-

9 0 THE INDIAN JOURNAL OF PEDIATRICS

tures but overlying skin was yellow in coiour and adherent with the swelling. There were no yellow creases in the palms and soles. There were no eafe-au lait spots or any evidence of neuro-ectoder- mal dysplasia on the skin. Systemic examination was essentially normal.

Investigations showed hemoglobin of 9.5 gin/all, total leucocyte count 8,000/ mm 8 with neutrophils 65%, lymphocytes 32% ,monocytes 1% and basophils 2%. The erythrocyte sedimentation rate was 58 mm first hour Westergreen. Serum cholestrol was 480 mg/dl. Total lipids and lipoprotein fractions could not be assayed. Skiagram of the feet showed soft tissue swellings over the Achilles tendons and tarsal bones were normal. Father was essentially normal and his serum cholesterol was 220 mg/dl.

During surgical exploration swellings over the tendo achilles were found to be adherent to the tendons which looked slightly hypertrophied and contained yellowish-white material. The swellings were free f rom the underlying bone and joint. A part of the Achilles tendon had to be excised and remaining port ion lengthened by Z-plasty and sutured. The other subcutaneous nodules could be excised more readily because they were unat tached to the underlying structures but all contained yellowish white cheesy material. The post-operative course was uneventful. Histopathologieal examina- t ion showed that fibroelastic tendinous tissue was infiltrated by groups, sheets and colums of large cells having vesicular nuclei and foamy lipid laden cytoplasm. Gian t cells were also present. Many areas contained cholesterol clefts. The

findings were xanthomatosis

Vol. 50, No. 402

suggestive of tendinous

Discussion

The association of cutaneous and tendinous xanthomatosis in hyperlipid states is now well recognised. The pre- sence o f yellowish-brown subcutaneous nodules in association with Achilles tendons and extensor surfaces of joints is characteristic of xanthomatosis. The classification of genetically determined hyperlipid states into various types requires detailed examination of lipopro- teins, triglycerides and cholesterol. There is no satisfactory classification on the basis of clinical manifestations. However, tendon xanthomas are generally associa- ted with elevated cholesterol levels, eruptive xanthomas with elevated trigly- ceride levels and tuberous and palmar xanthomas with both. Certain xantho- matosis states such as diffuse plantar xanthomatosis, xanthoma disscminatum and xanthelasmas may be associated with normal serum lipid levels. 4

As seen in our patient, tendon xan- thomas are characteristically associated with elevated cholesterol levels. It is generally believed that tendon xanthomas do not manifest if serum cholesterol levels are consistently below 300 mg/dl z'e Most cases of tendinous xanthomas occur in association with extensor tendons of the fingers, toes and Achilles tendons. Their size and number is related to the severity of hypercholesterolemia. These patients are predisposed to develop premature atherosclerosis and our patient did have borderline hypertension.

Treatment for most tendon xan-

S1NGH ET AL " TENDINOUS XANIHOMATOSIS

thomas is symptomatic. Surgical exci- sion is undertaken if lesions are symp- tomatic. Dietary control, cholestyramine, biliary diversion and ileal bypass have given variable results. Patients with homozygous familial hypercholesterole- mia have been successfully managed by repeated plasma exchange or plasma- pheresis, v

References

1. Fox C �9 Tendon xanthoma. Lancet 2 : 688 1879

2. Friedman MS : Xanthoma of the Achilles tendon. J Bone Joint Surg 29 : 760, 1947

91

3. Guravich JL : Familial hypercholesterol- emia Xanthomatosis: A preliminary rqocrt. Amer J Med 26 : 8, 1959

4. Wilkes L L : Tendon xanthcma in type I ~ hyperl poproteinemia. South Med J 70 : 254, I977

5. Gupta SK, Mukherjee K �9 Bilateral xan- thoma of Achilles Tendon. J Indian Med Assoc 65 : 331, 1975

6. Harlan WR, Graham JB, Ester EH : Familial hypercholesterolcmia : agenetic and metaboliestudy. Medicine 45: 77, ]966

7. King MEE, Breslow JL, Lees RS : Plasma exchange therapy of homozygous familial hypercholesterolemia. New Eng J Med 302 : 1457, 1980

5 - Azacytidine selectively increases globin synthesis in a patient with thalassemia

5--azacytidine, a cytidine analogue, was administered to a patient with severe B thalassemia in an attempt to stimulate hemoglobin F production. After seven days of 5-azacytidine treatment ~" globin synthesis increased approximately seven- fold. temporarily normalizing the patient's unbalanced globin synthesis. Erythropoiesis became more effective, leading to a temporary increase in the absolute reticulocyte count (from 5000 to 22,000 per cubic millimeter) and hemo- globin concentration (from 8, 0 to 1t3.8 g per deciliter). Hypomethylat ion of bone marrow D N A near both the y globin and E globin ger, es was direclly den~ons~rated. At the tjrne of peak drug

effect, about 7000 r - -g lobin messenger R N A molecules were present per ery- throid bone-marrow cell, in contrast to 10 to 15 ~ globin messenger R N A mol- ecules per cell. 5-azacytidine selectively increases r~-globin synthesis and therefore provides a new approach to the treat- ment of severe B-thalassemia. The authors recommend that further studies will be required to evaluate the efficacy, risks, and long-term toxicity o f 5-azacy- tidine before this approach can be used as a therapy for patients with disorders of hemoglobin synthesis.

Abstracted from

Timothy J L e y et al, N E J M 307:1469, 1982