ABSTRACT
Malignant tumors composed of both epithelial and melanocytic populations are exceedingly rare. Because the etiology of these malignant tumors is not yet defined, several authors have argued for the continued cataloging of these lesions. We present a 67-year-old man with a suspicious-appearing lesion on the right forearm; initial biopsy was consistent with a pigmented basal cell carcinoma. On re-excision, a collision of malignant melanoma and basal cell was identified.
ABSTRACT
Hyper-immunoglobulin D syndrome is a rare autosomal-recessive autoinflammatory syndrome in which a mevalonate kinase deficiency results due to mutations of the mevalonate kinase gene. We report a case of an Asian male infant who was found to have hyper-immunoglobulin D syndrome in the absence of fever. His skin manifestations included cephalic pustulosis as well recurrent transient and fixed pink plaques and nodules on the face and extremities. Subsequent examination revealed hyper-immunoglobulin D syndrome with two novel allelic mutations in the mevalonate kinase gene: c.895G > A (p.D299N) and c.1168C > T (p.Q390). It is important for dermatologists to recognize the varied cutaneous presentations of hyper-immunoglobulin D syndrome because rapid diagnosis and treatment can significantly affect outcomes.