Congenital Erythropoietic Porphyria: A Rare Inherited Disorder.

Congenital erythropoietic porphyria (CEP), also known as Gunther's disease, is an uncommon autosomal recessive disorder caused by a mutation in the uroporphyrinogen III synthase gene. This mutation results in reduced enzyme levels in heme synthesis and the accumulation of pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I, leading to the clinical manifestations of CEP. Typically, CEP manifests shortly after birth with severe cutaneous photosensitivity, blistering, ulceration, and scarring. Erythrodontia, acro-osteolysis, and skeletal abnormalities are frequently present in conjunction with it. It can even manifest in utero as hydrops fetalis, with pink or red diaper staining as an early diagnostic clue. In this case, we present a 17-year-old male with complaints of discharge over the left foot, blisters upon sunlight exposure, extensive mottled pigmentation, excessive facial hair, mutilated fingers, and verrucous growth over the toes. Using a Wood's lamp revealed pink fluorescence of teeth and ulcers on the foot. Laboratory investigations demonstrated anemia, leukocytopenia, thrombocytopenia, and elevated urine uroporphyrin 1 and coproporphyrin 1 levels. Current treatment approaches include sun protection to avoid further skin damage, beta-carotene to reduce oxidative stress, and blood transfusions to manage anemia. Stem cell transplantation remains the sole curative therapy for this exceedingly rare condition. This case report underscores the rarity and complexity of CEP and emphasizes the challenges in its management.

Hemoptysis Secondary to Anomalous Origin of Right Pulmonary Artery From Ascending Aorta in a Young Male: A Case Report.

We report a rare case of a 24-year-old male with a rare anatomic variant of patent ductus arteriosus (PDA). The patient presented with symptoms of productive cough with recurrent and severe bouts of hemoptysis and grade I dyspnea. There were no prior episodes reported. The patient was vitally stable with bilateral clubbing. On cardiopulmonary auscultation, a prominent parasternal heave, loud P2, and right lung crepitus were noted. A complete blood count revealed an elevated hemoglobin and RBC count. An ECG revealed sinus tachycardia and right ventricle (RV) strain. ECHO confirmed these findings, as dilated right atrium (RA) and RV, mild tricuspid valve regurgitation (TR), and severe pulmonary hypertension were noted. CT of the chest demonstrated multiple ground glass opacities, right lung consolidation, and volume loss suggestive of right-sided pneumonia with atelectasis. CT also proved the presence of PDA and an anomalous origin of the right pulmonary artery from the right ascending aorta, causing compression of the right main bronchus. We show the clinical and radiological findings and discuss the implications and approach to this rare congenital cardiovascular malformation, as well as how a patient-centered approach is necessary for its management.

A Rare Case of Digital Ulceration and Gangrene as an Initial Presentation of Systemic Lupus Erythematosus in a Child.

Systemic lupus erythematosus (SLE) is a complex autoimmune illness with a wide range of symptoms. Tissue-binding autoantibodies and intricate immune complexes are responsible for the initial damage to organs and cellular structures. Dermatological signs, particularly digital gangrene and ulcers, are uncommon in the context of systemic lupus erythematosus and often appear in the advanced stages of the disease. In this discussion, we present an unusual example of early-onset digital gangrene and ulcers in a young kid with systemic lupus erythematosus. It is unusual because SLE is mostly seen in adult patients, but here the patient is a seven-year-old boy who went to the doctor because he had urticarial rashes all over his body and face, skin desquamation, and sporadic fever episodes. The preliminary evaluation had difficulty separating this presentation from acute urticaria. However, further diagnostic testing and serological analysis confirmed the patient's SLE diagnosis. The distal regions of the fingers developed digital gangrene, ulceration, and vasculitis. Clinical and serological tests were used to confirm the diagnosis. Antinuclear antibodies (ANA), anti-ribonuclear protein (Anti-RNP) antibodies, anti-Smith (Anti-Sm) antibodies, and anti-Sjögren's syndrome-related antigen A (Anti-SS-A) antibodies were all positive in the patient. This example emphasizes the critical need to recognize the unusual and severe signs of SLE in medical practice.