Stoyan Ivanov Pavlov, Irina Ivanova Ivanova, Hristo Boychev Popov, Maria Angelova Tzaneva and Peter Ivanov Ghenev
Sarcoidosis is an enigmatic, multisystem granulomatous disease of unknown etiology and wide range of clinical presentations. Case report: A 54-year-old female presented with facial rash: polymorphic, round, infiltrated erythematous plaques, 1 - 3 cm in size, disseminated on several areas of the face. The medical history was consistent with dermatitis herpetiformis and persistent intrahepatic cholestasis. The laboratory test results suggested celiac disease (strong positivity of IgA anti-tissue transglutaminase antibodies) but upper endoscopy was not performed to confirm it. The skin biopsy revealed noncaseating epithelioid-cell granulomas, and negative direct immunofluorescence showed IgA deposits in the dermis. Sarcoidosis with cutaneous and hepatic involvement was established based on compatible clinical findings and supportive histology. The period between manifestations of Duhring disease and skin manifestations of sarcoidosis was 20 years. Conclusion: Our clinical case supports the hypothesis for common immune pathogenic factors in gluten-sensitive diseases and sarcoidosis. The simultaneous occurrence of celiac disease and sarcoidosis is rare, but should not be under recognized.
Jana Kazandjieva, Dimitrina Guleva, Assia Nikolova and Sonya Márina
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.