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All Journal Bioscientia Medicina : Journal of Biomedicine and Translational Research Bioscientia Medicina : Journal of Biomedicine and Translational Research
Clarissa Maharani Putri
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Biochemistry, Genetics & Molecular Biology Immunology & microbiology Medicine & Pharmacology Neuroscience

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A Multidisciplinary Approach to Managing Multiple Tuberous Xanthomas in a Pediatric Patient with Familial Hypercholesterolemia Type II: A Rare Case Clarissa Maharani Putri; Rina Gustia; Ennesta Asri; Mutia Sari; Indah Indria Sari
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 9 No. 3 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v9i3.1214

Abstract

Background: Familial hypercholesterolemia (FH) is a rare inherited disorder characterized by high cholesterol levels, primarily high levels of low-density lipoprotein cholesterol (LDL-C). This condition can lead to premature cardiovascular disease. A less recognized but significant manifestation of FH is the development of multiple tuberous xanthomas, which are exogenous masses or fatty deposits on the skin. Case presentation: This report describes the case of a 4-year-old female child who presented to the Dermatology, Venereology, and Aesthetics Department of Dr. M. Djamil General Hospital Padang with multiple yellowish, painless, and non-itchy lumps on her body. These lumps were located on her knuckles, hands, elbows, buttocks, knees, back of knees, ankles, and feet. The lumps had been progressively increasing in size over the past month. Her medical history revealed that she first developed a yellowish lump on her right ankle two years prior, which gradually spread to other areas of her body. A dermoscopic examination showed a yellow-brown structureless area, and laboratory tests confirmed hypercholesterolemia with elevated LDL levels. Her triglycerides were normal, and both of her parents also had hypercholesterolemia. A histopathology examination confirmed the diagnosis of xanthoma. The patient was diagnosed with tuberous xanthomas and treated with simvastatin 1x10 mg, along with surgical excision of the xanthomas and flap reconstruction under general anesthesia. Conclusion: This case highlights the importance of a multidisciplinary approach in managing multiple tuberous xanthomas in a child with FH. While surgical excision can effectively remove the lesions, ongoing lipid-lowering therapy is crucial to prevent recurrence and reduce cardiovascular risks associated with FH. Collaboration among dermatologists, pediatric cardiologists, and pediatric nutritionists is vital to ensure comprehensive care and enhance the patient's overall quality of life.
A Rare Presentation of Type 2 Lepra Reaction: Necrotizing Erythema Nodosum Leprosum with Extensive Ulceration Ariani, Tutty; Clarissa Maharani Putri
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 9 No. 3 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v9i3.1220

Abstract

Background: Leprosy, primarily caused by Mycobacterium leprae, is a chronic infectious disease that mainly affects the skin and peripheral nerves. Type 2 leprosy reaction (ENL) is an immune complex-mediated complication characterized by inflammation of the skin, nerves, and other organs. A less common manifestation of ENL is necrotizing ENL, which presents with extensive skin necrosis and ulceration. This case report describes a rare presentation of necrotizing ENL with extensive ulceration in a young woman with borderline lepromatous leprosy. Case presentation: A 20-year-old female presented with multiple, progressively enlarging, painless ulcers on her right leg and painful reddish nodules on her left arm and left leg. She had a history of borderline lepromatous leprosy. Dermatological examination revealed madarosis, infiltration, nodules, hyperpigmentation macules, ulcers, and blackish crusts. Sensory testing showed hypoesthesia in the abdomen and back, and anesthesia in both lower arms and legs. Histopathological examination confirmed the diagnosis of necrotizing ENL. Conclusion: Necrotizing ENL is a rare and severe complication of leprosy. This case highlights the importance of early diagnosis and appropriate management with multi-drug therapy and corticosteroids to prevent significant morbidity and disability.
A Multidisciplinary Approach to Managing Multiple Tuberous Xanthomas in a Pediatric Patient with Familial Hypercholesterolemia Type II: A Rare Case Clarissa Maharani Putri; Rina Gustia; Ennesta Asri; Mutia Sari; Indah Indria Sari
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 9 No. 3 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v9i3.1214

Abstract

Background: Familial hypercholesterolemia (FH) is a rare inherited disorder characterized by high cholesterol levels, primarily high levels of low-density lipoprotein cholesterol (LDL-C). This condition can lead to premature cardiovascular disease. A less recognized but significant manifestation of FH is the development of multiple tuberous xanthomas, which are exogenous masses or fatty deposits on the skin. Case presentation: This report describes the case of a 4-year-old female child who presented to the Dermatology, Venereology, and Aesthetics Department of Dr. M. Djamil General Hospital Padang with multiple yellowish, painless, and non-itchy lumps on her body. These lumps were located on her knuckles, hands, elbows, buttocks, knees, back of knees, ankles, and feet. The lumps had been progressively increasing in size over the past month. Her medical history revealed that she first developed a yellowish lump on her right ankle two years prior, which gradually spread to other areas of her body. A dermoscopic examination showed a yellow-brown structureless area, and laboratory tests confirmed hypercholesterolemia with elevated LDL levels. Her triglycerides were normal, and both of her parents also had hypercholesterolemia. A histopathology examination confirmed the diagnosis of xanthoma. The patient was diagnosed with tuberous xanthomas and treated with simvastatin 1x10 mg, along with surgical excision of the xanthomas and flap reconstruction under general anesthesia. Conclusion: This case highlights the importance of a multidisciplinary approach in managing multiple tuberous xanthomas in a child with FH. While surgical excision can effectively remove the lesions, ongoing lipid-lowering therapy is crucial to prevent recurrence and reduce cardiovascular risks associated with FH. Collaboration among dermatologists, pediatric cardiologists, and pediatric nutritionists is vital to ensure comprehensive care and enhance the patient's overall quality of life.
A Rare Presentation of Type 2 Lepra Reaction: Necrotizing Erythema Nodosum Leprosum with Extensive Ulceration Ariani, Tutty; Clarissa Maharani Putri
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 9 No. 3 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v9i3.1220

Abstract

Background: Leprosy, primarily caused by Mycobacterium leprae, is a chronic infectious disease that mainly affects the skin and peripheral nerves. Type 2 leprosy reaction (ENL) is an immune complex-mediated complication characterized by inflammation of the skin, nerves, and other organs. A less common manifestation of ENL is necrotizing ENL, which presents with extensive skin necrosis and ulceration. This case report describes a rare presentation of necrotizing ENL with extensive ulceration in a young woman with borderline lepromatous leprosy. Case presentation: A 20-year-old female presented with multiple, progressively enlarging, painless ulcers on her right leg and painful reddish nodules on her left arm and left leg. She had a history of borderline lepromatous leprosy. Dermatological examination revealed madarosis, infiltration, nodules, hyperpigmentation macules, ulcers, and blackish crusts. Sensory testing showed hypoesthesia in the abdomen and back, and anesthesia in both lower arms and legs. Histopathological examination confirmed the diagnosis of necrotizing ENL. Conclusion: Necrotizing ENL is a rare and severe complication of leprosy. This case highlights the importance of early diagnosis and appropriate management with multi-drug therapy and corticosteroids to prevent significant morbidity and disability.
Co-Authors Ariani, Tutty Ennesta Asri Indah Indria Sari Mutia Sari Rina Gustia