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Kristina Semkova, Sonya Marina and Jana Kazandjieva

Abstract

Infantile hemangiomas are the most common, benign vascular tumors of infancy. Their main feature is spontaneous involution over months to years after an initial phase of rapid proliferation. Small, superficial lesions usually resolve without sequel, but scarring and disfigurement are still possible, while the cosmetic outcome is unpredictable. Thus, inflantile hemangiomas benefit from non-aggressive topical treatment, because it is safe and with an overall outcome comparable to spontaneous involution. The available topical agents reported in the literature to satisfy these requirements are topical beta-blockers, imiquimod and topical corticosteroids. However, none of these have been assessed in randomized controlled trials, and standardized treatment recommendations about precise dosing and patient selection are not available yet.

Open access

Jana Kazandjieva, Elisaveta Stefanova, Zdravka Todorova, Malena Nikolova Gergovska and Kristina Semkova

Abstract

Congenital generalized hypertrichosis, in its most common form, is idiopathic. In the absence of underlying endocrine or metabolic disorders, congenital generalized hypertrichosis is rare in humans, affecting as few as one in a billion individuals and may be an isolated condition of the skin, or a component feature of other disorders or syndromes. Congenital generalized hypertrichosis terminalis is an extremely rare condition, a distinct subset of disorders with congenital hypertrichosis, presenting with excessive hair as the primary clinical feature. Congenital generalized hypertrichosis terminalis is characterized by universal excessive growth of pigmented terminal hair and often accompanied with gingival hyperplasia and/or a coarse face. Gingival hyperplasia may be delayed even until puberty. Its pathogenesis may be caused by one of the following mechanisms: conversion of vellus to terminal hairs and/or prolonged anagenetic stage, and/or increase in the number of hair follicles. Since the Middle Ages, less than 60 individuals with congenital hypertrichosis terminalis have been described, and, according to the most recent estimates, less than 40 cases were documented adequately and definitively in the literature. Recent articles identified congenital generalized hypertrichosis terminalis as a genomic disorder.

This report is a follow up of a six-year-old boy born from the first normal pregnancy of non-consanguineous parents, starting from delivery. Our investigation revealed a history of: excessive hair growth and a coarse face from birth; increased body weight with high blood pressure and gingival hyperplasia at the age of four months. The parents denied any medication or chemical intake during pregnancy, as well as a history of hypertrichosis in their families. The child had a congenital hydronephrosis of the right kidney. Ultrasound and magnetic resonance imaging revealed severe congenital hydronephrosis of the right kidney and suspicion of hypertrophy of the left adrenal gland suggestive of an adenoma. The follow up showed normal values of hormones which excluded adrenal tumor. At the age of 8 months the patient underwent right-sided nephrectomy after several urinary infections. The child was admitted again to our Clinic at the age of four years, with generalized hypertrichosis, gingival hyperplasia and a coarse face without any other pathological signs. He has had a normal intellectual development, but was extremely shy, unconfident and dependent on his mother. The relevant laboratory investigations showed normal full blood count, biochemical, hormonal test results and normal function of the single kidney. Molecular chromosome analysis revealed heterozygous deletion on chromosome 17q12 region. Prolonged follow-up with routine checkups every 6–12 months was advised, including regular outpatient appointments particularly with an endocrinologist, because of the risk of diabetes mellitus, and with a nephrologist, for control of renal function.

Laser hair removal was suggested and the patient underwent one procedure with long pulsed neodynium:yttrium-albumin-garnet laser with a wavelength of 1064 nm. The procedure was effective and well-tolerated and the treatment course is currently ongoing.

Although it is now believed that most people with congenital generalized hypertrichosis have an unknown genetic defect, up to date, a clear specific molecular abnormality has not been proved. It has been suggested that the distal portion of human chromosome 17q may contain dosage-sensitive genes that contribute to excessive hair growth.

We present a sporadic case of an extremely rare congenital generalized hypertrichosis terminalis in a six-year-old boy born to non-consanguineous parents, with gingival hyperplasia, a coarse face and congenital hydronephrosis, with heterozygous deletion on chromosomal region 17q12 consistent with his renal phenotype.

Open access

Malena Gergovska, Kristina Semkova, Jana Kazandjieva and Nikolay Tsankov

Abstract

A large number of contact allergic reactions to benzocaine have been reported since its introduction to the pharmaceutical market as an active ingredient in different over-the-counter anesthetic ointments. Benzocaine is used as a key ingredient in many pharmaceuticals, such as products for oral ulcers, wound and burn preparations, sunburn remedies, hemorrhoidal preparations, oral and gingival products, sore throat sprays/lozenges, callous and wart remedies, creams for treatment of poison ivy dermatitis, tooth ache and denture irritation products. We present a 56-year-old Caucasian male with chronic rash, accompanied by intense itching in the perianal area. The lesions occurred two months earlier and the patient was treated with a wide range of topical antifungals, antibiotics and corticosteroids, with temporary improvement. The skin lesions were consistent with chronic allergic contact dermatitis. The patient denied using any topical preparations other than those prescribed by his dermatologist. Patch testing with the European baseline series was performed. A strongly positive reaction to benzocaine was identified on reading days 2 and 3. Targeted history showed intermittent use of benzocaine anti-hemorrhoidal cream to treat concomitant hemorrhoids. Benzocaine was discontinued and treatment with methylprednisolone aceponate 0.1% was initiated, resulting in significant improvement. No relapse was observed at 3-month follow-up. In conclusion, patients with confirmed benzocaine allergy should pay special attention to product labels and avoid products that contain benzocaine and its related substances. All products labelled as “anaesthetic” or “caine” should be suspected of containing benzocaine or related compounds. Patient education and awareness are critical to avoid further episodes and relapses.

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

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

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.