Pierre Robin Sequence: Diagnostic Difficulties Faced while Differentiating Isolated and Syndromic Forms.

Pierre Robin sequence (PRS) is characterized by the triad of retrognathia, glossoptosis, and airway obstruction. PRS may occur in isolation or in conjunction with other syndromes. Distinguishing isolated and syndromic forms of PRS helps clinicians decide the management plan.

Ewing's sarcoma with distant metastasis: A brief note on management and emerging therapies.

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.

Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling.

Introduction: Cornelia de Lange syndrome (CdLS) is a congenital disorder marked by distinctive facial features, severe growth restriction, cognitive disability, global developmental delay, and anomalies involving multiple body organs. Majority cases of CdLS are caused due to sporadic mutations in the NIPBL, SMC1A, SMC3, RAD21, or HDAC8 genes, which form/regulate a multiprotein complex called cohesin. Cohesin is required for the separation of sister chromatids during cell division.

Complete Rectal Prolapse in Children: Case Report, Review of Literature, and Latest Trends in Management.

Background: Complete rectal prolapse is the circumferential descent of all the layers of the rectum through the anus. It often leads to bleeding, obstructed defecation, incarceration or fecal incontinence.

Case Report: We present a rare case of a 4-year-old child with complete rectal prolapse of 12 cm in length.

Unilateral Primary Congenital Lymphedema of the Upper Limb in an 11-Month-Old Infant: A Clinical and Pharmacological Perspective.

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.

Pediatric Pleomorphic Adenoma of the Parotid: Case Report, Review of Literature and Novel Therapeutic Targets.

Salivary gland tumors are extremely rare and encompass a diverse group of histologies. Less than 5% of the affected population is pediatric. We present a case of 6-year-old child with pleomorphic adenoma of the parotid.

A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates.

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.

Giant Congenital Melanocytic Nevi: An Update and Emerging Therapies.

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.

Staphylococcal scalded skin syndrome: A pediatric dermatology case report.

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.

Neurofibromatosis and breast cancer: Do we need to revise the mammographic screening schedule in patients of neurofibromatosis?

Neurofibromatosis type 1 (NF-1) is a neurocutaneous syndrome with autosomal dominant mode of inheritance and has a high propensity to develop benign and malignant nervous system tumors. Although uncommon, case reports describing the association of NF-1 and breast cancer are available in the literature. We illustrate one such case of NF-1, with no family history of the disorder and presenting with multifocal invasive carcinoma of the right breast, in an attempt to describe the association between these two entities.

Lysosomal storage disorders: Morphologic appraisal in Indian population.

Background: Lysosomal storage disorders (LSDs) comprise a group of at least 50 distinct genetic diseases, each one resulting from the deficiency of a particular lysosomal enzyme involved in metabolism. We attempt to study and further subclassify pediatric LSDs into Gaucher's and non-Gaucher's category based on the morphologic variables seen in the bone marrow aspiration smears and trephine biopsy sections.

Materials And Methods: Pediatric (<12 years age) cases of LSDs diagnosed by bone marrow aspiration and trephine biopsy specimens, in the last 12 years period, were retrieved.

Split-Hand Malformation in a 4-Year-Old Child.

Split-hand deformity is one of the milder manifestations of a congenital disorder called split-hand/split-foot malformation. We present a case of a 4-year-old child with split-hand malformation in his left hand since birth. A median cleft was present in the affected hand with absence of the 3rd and 4th digits, giving rise to a characteristic lobster-claw appearance.