Unmasking of Childhood Hypothyroidism by Disseminated Xanthomas

Abstract

ABSTRACT. Secondary hyperlipidemia is a common laboratory finding in children with nephrotic syndrome, diabetes mellitus, and hypothyroidism. However, clinical signs of hyperlipidemia are extremely rare in childhood.We report on an 11-year-old girl who presented with a disseminated yellow papulomatous rash on the lower limbs and yellow skin creases on the palms of her hands. Blood tests yielded an opaque serum with a triglyceride concentration of 820 mg/dL and cholesterol of 1050 mg/ dL. Skin biopsy of one of the papules confirmed the diagnosis of xanthomas.Additional examinations revealed clinical (weight gain, diminished growth rate) and biochemical primary hypothyroidism (free T4: 0.4 ng/L [normal 8 -22 ng/L]; thyroid-stimulating hormone: >200 mU/L) as a consequence of Hashimoto thyroiditis (thyroid peroxidase and thyroglobulin: 4400 U/mL and >2000 U/mL, respectively; normal <60 U/mL). The patient was started on L-thyroxine, which led to a gradual decline of cholesterol and triglycerides to normal concentrations and a complete remission from the xanthomatous rash.For the first time, this case depicts disseminated xanthomas of the skin as the presenting complaint of severe hypothyroidism. Pediatrics 2001;108(5). URL: http:// www.pediatrics.org/cgi/content/full/108/5/e96; hyperlipidemia, hypothyroidism, xanthoma.ABBREVIATIONS. fT4, free T4; SDS, standard deviation score; TSH, thyroid-stimulating hormone.W ith an incidence of 1 in 500, hyperlipidemia is one of the commonest congenital disorders of metabolism. 1 Heterozygous type III hyperlipoproteinemia is clinically relevant, as it is frequently associated with the presence of xanthomas in adulthood. 2 However, although nonspecific skin lesions may occur in childhood type III hyperbetalipoproteinemia, xanthomas are extremely uncommon.Apart from inborn hyperlipidemia, secondary causes of elevated serum lipids have to be excluded. These diseases include the nephrotic syndrome, 3 diabetes mellitus, and hypothyroidism. 1 Particularly in childhood, however, secondary hyperlipidemia is rarely associated with clinical signs or symptoms. 4 We present a child with disseminated xanthomas and massively elevated serum lipid concentrations as a consequence of severe hypothyroidism. CASE REPORTAn 11-year-old girl presented to the pediatric endocrine outpatient department of the University of Erlangen with a disseminated yellow papulomatous rash on her lower limbs and yellow skin creases of the palms of her hands (Fig 1). The rash had been developing gradually over the past 2 years. On presentation, the patient was 137.5 cm tall (standard deviation score [SDS]: Ϫ2.4; Fig 2) and had a weight of 37 kg (50th percentile). Body mass index was 19.6 (SDS ϩ 1.8 according to 5). When the patient was 4 years old, her height had been at the 50th percentile (102 cm;

Chronic Alcohol Intake Upregulates Hepatic Expression of Carotenoid Cleavage Enzymes and PPAR in Rats ,

“…Because retinoic acid treatment decreases TR expression in a dose-dependent manner (41) and chronic alcohol intake results in lower levels of hepatic vitamin A and retinoic acid (Table 1), we proposed that alcohol treatment could indirectly increase hepatic TR expression by decreasing vitamin A levels in the livers. In addition, it has been reported that patients with hypothyroidism accumulated significant amounts of carotenoids in their body (41,44) and that CMO1 was upregulated by T 3 (17). Therefore, we speculate that the increase in TRb could augment thyroid hormone's effects and contribute to the upregulation of CMO1.…”

KTP‐Laser‐Koagulation bei Xanthelasma palpebrarum

“…Die Hälfte unserer PatientInnen wies mäßiggradig erhöhte Serumcholesterinwerte bis zu 300 mg/dl auf. Auch das gemeinsame Auftreten von XP und Schilddrüsen‐Funktionsstörungen wurde schon beschrieben und zwar sowohl bei Individuen mit Hyperthyreoidismus [4] als auch solchen mit Hypothyreoidismus [5]. Weitere Untersuchungen werden zeigen, ob es sich dabei um eine Kausalität handelt oder nicht, in unserem Kollektiv fanden sich jedenfalls 21,4 % der Xp‐Betroffenen in Therapie einer hypothyreoten Stoffwechsellage.…”

“…Weitere Untersuchungen werden zeigen, ob es sich dabei um eine Kausalität handelt oder nicht, in unserem Kollektiv fanden sich jedenfalls 21,4 % der Xp‐Betroffenen in Therapie einer hypothyreoten Stoffwechsellage. Den möglichen Zusammenhang von Xp und Diabetes mellitus konnten wir nicht bekräftigen [4, 5].…”

“…Über die erfolgreiche Anwendung verschiedener Lasersysteme, wie Farbstofflaser, CO 2 ‐Laser, Erbium:YAG‐Laser und Argon‐Laser wurde bereits berichtet. Sogar die ätzende Wirkung von Bi‐ oder Trichloressigsäure und ähnlichen Substanzen wurden topisch zur Minimierung der Plaques lokal angewandt [4, 5]. Neue, minimal invasive Techniken sollten ein minimales Risiko von Nebenwirkungen wie Narbenbildung und Hyperpigmentierung aufweisen.…”