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Jana Kazandjieva, Dimitrina Guleva, Sonya Márina, Assya Nikolova, Gergana Mladenova and Alexander Kurtev

Abstract

Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome (BSS), is a rare autosomal recessive disease characterized by near total absence of adipose tissue and muscular hypertrophy. Additional common clinical signs are acanthosis nigricans, acromegaloid features, hepatomegaly, hyperandrogenism, altered glucose intolerance, cardiomyopathy and hypertriglyceridemia. An 11-year-old girl was admitted to our Clinic presenting with hyperandrogenic features, generalized lack of adipose tissue, generalized muscular hypertrophy and brownish colored skin on the neck, axillas and inguinal folds associated with impaired glucose tolerance and hypertension. A clinical diagnosis of congenital generalized lipodystrophy was made.

Open access

Jana Kazandjieva, Dimitrina Guleva, Assia Nikolova and Sonya Márina

Abstract

Leucinosis (maple syrup urine disease - MSUD) is an inherited aminoacidopathy and organic aciduria caused by severe enzyme defect in the metabolic pathway of amino acids: leucine, isoleucine, and valine. The classical variant of the disease is characterized by accumulation of both amino and α-keto acids, particulary the most toxic rapid elevation of circulating leucine and its ketoacid, α-ketoisocaproate, which cause encephalopathy and life-threatening brain swelling. However, patients with the most severe form, classical maple syrup urine disease, may appear normal at birth, but develop acute metabolic decompensation within the first weeks of life with typical symptoms: poor feeding, vomiting, poor weight gain, somnolence and burnt sugar-smelling urine, reminiscent of maple syrup. Early diagnosis and dietary intervention improve the patient’s condition, prevent severe complications, and may allow normal intellectual development.

We present a 4-month old infant with leucinosis dignosed 3 months earlier, due to elevated levels of amino acids: leucine, isoleucine and valine. The patient was full-term neonate with an uncomplecated delivery, without any family history of metabolic disorder or consanguinity. The infant was referred to a dermatologist, because of maculopapular exanthema on the scalp, trunk, upper and lower extremities, and exfoliative dermatitis of the perioral, particularly anogenital regions, associated with diarrhea. Skin involvement was associated with poor general condition of the infant exhibiting severe hypotension, anemic syndrome, dyspepsia and neurological symptoms. Exanthema developed a few days after the initiation of nutritional therapy for MSUD: isoleucine-, leucine-, and valine-free powdered medical food (MSUD-2) supplemented with iron. Zink levels were within normal ranges. Rapid skin improvement occurred after adequate branched-chain amino acids supplementation was commenced under regular laboratory control (normal zinc serum level with deficiencies of leucine and valine), skin hygiene with antiseptics, emollients and low potent topical corticosteroids.

Treatment of acute metabolic decompensation and dietary restriction of branched-chain amino acids are the main aspects in the management of maple syrup urine disease. Common findings in patients with MSUD include: plasma amino acid imbalance, particularly of essential amino acids, failure to thrive attributed to restriction of particular precursor amino acids and natural proteins, micronutrient deficiencies or higher energy requirement due to chronic illness or inflammation. Due to low intake of branched-chain amino acids, some patients develop skin lesions known as acrodermatitis enteropathica-like syndrome.

Here we report a case of an infant who developed acrodermatitis enteropathica-like skin eruptions due to branched-chain amino acid deficiency during treatment of maple syrup urine disease. According to available world literature, this is the first report of acrodermatitis enteropathica-like syndrome in an infant with maple syrup urine disease (leucinosis) in the Republic of Bulgaria.

Open access

Sonya Marina, Valja Broshtilova, Ivo Botev, Dimitrina Guleva, Maria Hadzhiivancheva, Assia Nikolova and Jana Kazandjieva

Abstract

Although toxoplasmosis is one of the most widely spread infections in the world, types that involve the skin are extremely rare. However, skin lesions are not specific; moreover, they are quite diverse, which makes the diagnosis of cutaneous toxoplasmosis rather difficult. Thus, differential diagnosis should include a number of other diseases. We present a case of a 43-year-old immunocompetent man with multiple livid erythematous papules and nodules with yellowish discharge that involved the skin of the body and the extremities. By using electro-chemiluminescence immunoassay, immunoglobulin G antibodies to Toxoplasma gondii were detected in the serum, confirming the diagnosis of toxoplasmosis. The treatment with pyrimethamine and trimethoprim-sulfamethoxazole led to complete resolution of skin lesions. In conclusion, although rare in the dermatological practice, cutaneous toxoplasmosis should be considered in all patients presenting with lymphadenopathy, non-specific skin eruptions, especially nodular and colliquative, blood eosinophilia and histological findigs revealing abundant eosinophilic inflitrations.