Case History/ Examination

A 22-year-old male nonalcoholic and nonsmoker with a known history of Xeroderma Pigmentosum diagnosed at six months of age presented to the hospital with chief complaints of a non-productive, intermittent cough for six months, accompanied by episodes of hemoptysis, intermittent fever, and shortness of breath of the same duration. The patient was in his usual state of health until six months ago when he developed a non-productive, intermittent cough associated with shortness of breath and left-sided chest pain. Additionally, he reported intermittent fever, with the highest recorded temperature of 102°F, accompanied by chills and rigors. He also had jerky movements on the upper limb at night for a few minutes, mainly during sleep. He had 4-5 jerky movements till now. His medical history was notable for cicatricial ectropion with corneal opacity and neovascularization, for which he underwent eye surgery ten years ago. On examination, the patient appeared ill and had cachexia but had no pallor, icterus, lymphadenopathy, cyanosis, clubbing, or signs of dehydration. His vital signs were heart rate of 80 beats per minute, respiratory rate of 18 breaths per minute, blood pressure of 110/70 mmHg, temperature of 98°F, and SpO2 of 98% on the right arm. He had level II right cervical lymphadenopathy, which was palpable (1X1 cm) and tender. His skin exhibited generalized hypo and hyperpigmented macules all over the body. Chest examination revealed crackles and decreased air entry on the left side. Cardiovascular examination showed normal heart sounds (S1 and S2), and the central nervous system examination was unremarkable.