RESUMO
Introduction: Tufted angioma (TA) is a rare benign vascular tumor usually occurring in the first year of life. It may present as reddish papules or purplish red to black plaques. Tender lesions commonly affect the neck, upper trunk, and shoulders. Histologic tufts of capillaries infiltrating the dermis in a "cannon ball" distribution pattern confirm the diagnosis. However, effective treatments for TA are scarce. Pulsed dye laser (PDL) is an alternative therapy for TA, particularly concerning cosmetics and pain relief. This case report demonstrates the effectiveness of PDL as a treatment for TA. Case: We report a 15-year-old girl with five-year history of painful purplish red plaques on her left cheek, neck, chest, left shoulder, and back. Histopathological examination from skin biopsy showed discrete "cannon ball" pattern in the dermis. Laboratory examination revealed normal platelet count and fibrinogen level. Based on these presentations, the diagnosis of TA without complications was made. We treated the lesion using 595-nm PDL with 6.5-10 J/cm2 fluence of, 1.5 ms pulsed duration, and 5-7 mm spot size every three weeks. Reductions in redness and pain were seen after four sessions of treatment. Discussion: PDL promotes selective vascular damage with minimal injury to the surrounding skin. Capillary tufts in TA could therefore serve as a target for laser treatment, which may result in fading redness and pain reduction. Conclusion: PDL is effective in reducing redness and pain in TA.
RESUMO
Non-Langerhans cell histiocytosis (non-LCH) is a group of diseases characterized by the proliferation of histiocytes in tissues that is excluded from the diagnostic criteria for LCH. Juvenile xanthogranuloma (JXG) and benign cephalic histiocytosis (BCH) are the most common types of cutaneous non-LCH. These two diseases share similarities in both clinical and histological features, therefore, they can be difficult to differentiate. Thorough physical, dermoscopic, and histopathological examinations are required to distinguish between JXG and BCH. We hereby present two rare cases of non-LCH in pediatric patients, presented with JXG and BCH. The dermoscopic examination of both cases showed a setting-sun appearance, while the histopathological examination revealed Touton giant cells in the JXG case, and massive lymphocyte infiltration in the BCH case. Both patients were treated with 1% topical rapamycin in a split-side comparison for the first 12 weeks, followed by applications on both sides for a total duration of 24 weeks. As a result, there was a significant reduction in the size of the lesion, leading to patient's satisfaction. Rapamycin is an immunosuppressive agent with antineoplastic activity. Rapamycin can be used as an alternative non-invasive topical treatment option for JXG and BCH. However, long-term observations are required to assess its effectiveness and side effects.
RESUMO
Spiradenoma is a rare benign adnexal tumor with eccrine differentiation. The clinical manifestations include painful, skin-colored, red, gray, or bluish nodules on the upper half of the body. We report a case of spiradenoma in a 31-year-old man. The diagnosis was established from the patient's history, physical examination, and histopathological examination. In this case, the patient was treated with intralesional injection of triamcinolone acetonide (TA) 10 mg/mL. After the fourth injection, the lesions grew smaller and thinner. TA injection is easy to administer and showed good efficacy in spiradenoma case, although further research with a larger number of patients is needed.
RESUMO
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease that disrupts deoxyribonucleic acid (DNA) repair due to ultraviolet (UV) radiation. XP is characterized by extreme sensitivity to sunlight, photophobia, cutaneous lesions in the form of freckle-like hyperpigmented macules, and neoplasia on the skin surface. Malignancy is a common complication found in areas exposed to UV light. Squamous cell carcinomas (SCC) is the most common malignancy seen in patients with XP. This report illustrates a case of XP in a six-year-old girl with cutaneous and ocular SCC. The diagnosis of XP was established based on the patient's history and the presence of typical clinical manifestations. Dermoscopy and histopathology examinations confirmed the presence of SCC on the face and eyes. The management of XP patients includes early diagnosis, lifelong UV protection, and early detection of cutaneous malignancy. Early detection and appropriate management are very important in preventing the occurrence of malignancy.
RESUMO
Self-improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin fragility within the first few years of life. Genetic inheritance has previously been reported as autosomal dominant or recessive with both forms harboring mutations in COL7A1. To date, there have been no reports of this rare clinical entity from various Southeast Asian ethnicities. Here, we describe the clinical and molecular features of five patients from the Southeast Asia region who presented with predominantly acral-distributed blisters and erosions in the first few days of life. Blistering resolved over several months, without appearance of new blisters. By immunofluorescence, intraepidermal retention of Type VII collagen was observed in all patient skin biopsies when investigated with antibody staining. Genetic analysis of four patients revealed pathogenic variants in COL7A1 which have not been previously reported. The clinical diagnosis in these rare patients is confirmed with molecular histology and genetic characterization.
Assuntos
Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Predisposição Genética para Doença , Anormalidades da Pele/genética , Sudeste Asiático/epidemiologia , Biópsia , Pré-Escolar , Epidermólise Bolhosa Distrófica/diagnóstico , Epidermólise Bolhosa Distrófica/fisiopatologia , Epidermólise Bolhosa Distrófica/terapia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/fisiopatologia , Anormalidades da Pele/terapiaRESUMO
Epidermoid cyst (EC) is a cyst containing keratin and its breakdown products, that is surrounded by an epidermoid wall. EC can occur in both men and women, especially in young- and middle-aged adults. The clinical features of EC include asymptomatic, well-demarcated, and skin-colored to yellowish subcutaneous or dermal nodules with a punctum on the middle of the lesion which can occur anywhere on the body. This type of cyst is usually solitary with diameter up to 5 cm, or rarely, there are multiple with diameters of more than 5 cm, which is classified as a giant EC. Here, we report a case of generalized multiple ECs with a giant EC on the left gluteal region of a 19-year-old male with complaints of asymptomatic skin-colored nodules with central punctum on the right temple, chest, back, and gluteal regions for five years. Correlation between the clinical and histopathological findings in the form of cysts containing keratin and lined by wall composed of stratified squamous epithelia established the diagnosis of EC. The patient underwent surgical procedures for the skin-colored nodules on the chest, back, and gluteal regions. He also received triamcinolone acetonide intralesional injection for the skin-colored nodule on the right temple. After four months of follow-up, there was no recurrence, and all the skin-colored nodules were completely removed. EC should always be considered when diagnosing a skin-colored nodule even if the manifestations are generalized multiple and giant nodules, as in our case, demonstrating a rare and unusual case of EC, to the best of our knowledge.
RESUMO
Epidermal nevus syndromes are a group of rare multiorgan disorders. Schimmelpenning syndrome is a clinical variant of epidermal nevus syndromes. This congenital syndrome is characterized by the existence of nevus sebaceous and usually accompanied by abnormalities of the eyes, skeletal, cardiovascular, and central nervous systems. A 2-year-old girl presented with large, hairless, yellowish-brown plaques on the scalp and face along with multiple brownish-black verrucose plaques and brownish-black macules on almost all parts of the body. The skin-colored verrucose tumors were also found on the lips and around the mouth. Histopathological examination of the lesion on the forehead revealed hyperkeratosis, acanthosis, and sebaceous gland hyperplasia supporting the diagnosis of nevus sebaceous, while histopathological examination of the lesions on the lips and abdomen demonstrated hyperkeratosis, acanthosis, and papillomatosis consistent with verrucous epidermal nevus. The pediatrician suspected that the patient had mental retardation; however, there were no neurological, cardiac, skeletal, nor ophthalmologic abnormalities. The lesions on the lips and around the mouth were excised, and it demonstrated a good result. To conclude, epidermal nevus syndrome (e.g., Schimmelpenning syndrome) should be considered in children born with nevus sebaceous.
RESUMO
BACKGROUND Multifocal tuberculosis (TB) with more than 1 tuberculous osteoarticular lesion is rare. Furthermore, metastatic tuberculous abscess (MTA) is also a very rare manifestation of cutaneous TB in children. A non-specific, often subtle, early clinical presentation in conjunction with a low prevalence rate constitute obstacles for diagnosis. CASE REPORT A 9-years old female patient was referred to Hasan Sadikin Pediatric Respirology Outpatient clinic from the Orthopedic Department with lumps at the left elbow joint, lateral side of the left hand, and lateral side of the left foot. Fine needle aspiration biopsy of the lumps suggested a chronic inflammation due to TB. The patient was then started with a course of anti-TB drugs consisting of rifampicin, isoniazid, pyrazinamide, and ethambutol. During the treatment course, she experienced anti-TB drug-induced hepatotoxicity (ADIH). We then switched the regimen to streptomycin and ethambutol for 2 weeks, then reintroduced treatment with the modified British Thoracic Society guidelines regimen. The nodules appeared shrunken after 3 months of treatment with anti-TB drugs. CONCLUSIONS Increased awareness of unusual manifestations of TB will likely allow for proper diagnosis and management of this common infection. Accordingly, timely diagnosis and management will prevent further debilitating sequelae.