Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. The two most common forms of the disease are hypohidrotic/anhidrotic ED and hidrotic ED. They are caused by the mutations of several genes. We present a case of a 9-year-old child with hypohidrotic ED, who presented with hypodontia, dyshidrosis, hypotrichosis, and raised body temperature. We treated the raised body temperature symptomatically with cooling techniques and antipyretics. A multidisciplinary approach with physicians from several fields is required to provide comprehensive medical care to patients with ED.
Giant congenital melanocytic nevi (GCMN) are a rare occurrence. Gain-of-function mutation in the NRAS gene is found to be associated with GCMN, causing abnormal proliferation of embryonic melanoblasts. The two major complications associated with GCMN are malignant melanoma and neurocutaneous melanosis. Treatment of GCMN has conventionally been surgical. However, the role of NRAS inhibitors and inactivation of nevus tissue by high hydrostatic pressure are being explored. We present a case of a 1-day-old neonate born with GCMN, along with a review of the literature.
Staphylococcal scalded skin syndrome is a condition which predominantly affects children and causes a spectrum of skin lesions. We present a case of a 2-month-old infant with complaints of fever and fragile blisters over the body. The mucosal areas were spared. The diagnosis of staphylococcal scalded skin syndrome was reached on clinical grounds and culture report. The patient responded well to the treatment, which included an antibiotic (cloxacillin), an analgesic (paracetamol), and hydration with intravenous fluids. He was discharged after 8 days, with almost complete resolution of his skin lesions. Having a high clinical suspicion for staphylococcal scalded skin syndrome, early diagnosis/treatment, and following robust hygiene measures are imperative for the effective management of staphylococcal scalded skin syndrome. More efforts are needed to develop novel therapies for staphylococcal scalded skin syndrome.
BACKGROUND:Lymphedema is the accumulation of a protein-rich fluid in the interstitial space due to reduced lymph transport capacity. Congenital primary lymphedema affecting only one of the upper limbs is a rarity.CASE REPORT:We present a case of an 11-month-old infant presenting with swelling of the right upper limb, which had gradually progressed over the past five months. Lymphoscintigraphy was suggestive of lymphatic blockade in the right upper limb. All other investigations were within normal limits. A diagnosis of primary congenital lymphedema affecting the right upper limb was made. The patient was managed conservatively with complex decongestive therapy and was requested regular follow-up. The lymphedema did not increase within four months of follow-up.CONCLUSIONS:Complex decongestive therapy is the cornerstone of the management of primary congenital lymphedema. New investigational therapies such as leukotriene B4 antagonists hold a promise for patients with lymphedema.
Ewing’s sarcoma is an aggressive fatal malignancy of bones and soft-tissue. It predominantly affects the young population, with a worldwide incidence of three cases per million. The pelvis, extremities, and ribs are the most common sites. We present a case of massive Ewing’s sarcoma of the right femur with metastasis to bones and lungs. The patient was treated with chemotherapy. However, he succumbed to his illness before completion of therapy. In conclusion, Ewing’s sarcoma with distant metastasis is a high risk case with poor prognosis. Integrating novel molecular targets with conventional chemotherapeutic agents holds a promise for high-risk Ewing’s sarcoma patients.
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